17 February 2006 print
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Editorial
 
Orphanet Journal of Rare Diseases to make its debut
 
The Orphanet Journal of Rare Diseases is scheduled to officially launch in mid-March and is already receiving submissions. Over two years in the planning, this open-access peer-reviewed online journal is the first of its kind devoted exclusively to the subject of rare diseases and orphan drugs. Open to all facets of rare diseases, the journal will publish high-quality articles on topics relating to diagnosis, clinical description, clinical work-up and management, aetiopathogenesis, epidemiology and genetic counselling. Orphanet Journal of Rare Diseases presents researchers and clinicians the opportunity to publish state-of-the-art developments in the field of rare diseases and orphan drugs, as well as new syndromes and clinical trial outcomes, including negative results. Published articles will be listed in PubMed and archived in PubMed Central. Articles will also be stored in repositories at the University of Potsdam (Germany), INIST(France), and e-Depot, the National Library of the Netherlands’ digital archive of all electronic publications. Finally, the journal is participating in the British Library's e-journal pilot project, planning to deposit copies of all articles with the British Library.


Published by BioMed Central, an independent publishing house dedicated to ensuring peer-reviewed biomedical research, Orphanet Journal of Rare Diseases will be immediately and permanently available online and completely free of charge for readers. Authors retain copyright, allowing others to reproduce and disseminate articles at the author’s discretion.

Review articles – comprehensive and authoritative descriptions of any topic within the scope of the rare disease and orphan drug field – are welcome, along with case reports, case studies, methodology articles, and research. Articles submitted will be vetted by the editors for relevance and style, then those accepted will be sent to at least two experts for peer review. Edited by Ségolène Aymé, director of Orphanet and leader of the Rare Diseases Task Force; Bruno Dallapiccola, professor of medical genetics and director of the CSS Mendel Institute in Rome; and Dian Donnai, professor of medical genetics at St Mary's Hospital and member of the Government Genetics and Insurance Committee and the DH Genetics Commissioning Advisory Group in the UK, Orphanet Journal of Rare Diseases is supported by a European editorial board.

With its online submission system up and running, Orphanet Journal of Rare Diseases looks forward to a fruitful collaboration between professionals in the rare disease field and welcomes the participation of all interested colleagues worldwide.
 


 
Task Force Update
 
Working groups
 
Report on the WG PHI Meeting of 30 January 2006
 
The Rare Disease Task Force Working Group on Health Indicators met in Paris on 30 January, 2006 to forward their initiative towards ensuring that public health indicators appropriately encompass rare diseases. The meeting sought to define a work plan for the coming two to three years, highlighting three main issues:

1) the applicability of the concept of health indicators to the field of rare diseases
2) The feasibility of death certificates as a source of information
3) The definition of rare diseases for surveillance purposes

Six presentations on various aspects of health indicators from different countries served to inform the group of the advantages and drawbacks of different possible health indicators. The day-long workshop yielded six definite work programmes to be developed, including Death certificates and hospital discharge records (feasibility study); Collecting data for 50 lethal rare diseases in ICD 10; Establishing a list of macro-indicators using ECHI as a source; Definition of type of diseases to be monitored; Mapping of existing data: registries, cohorts, databases, other resources; Feasibility and interest of registering patients with rare diseases in a geographically defined area; and Project management and leadership.

For these work programmes, various individuals and groups have already agreed to contribute, but there is still room for other interested partners to participate and the RDTF welcomes all proposals. It was agreed that a three-year timeframe is most reasonable and will allow the group to prepare future stages of the programme. Funding will be requested to complete the designated objectives. A full report will be available on the RDTF website later this month.

 


 
EU Policy News
 
EPPOSI publishes key outcomes and recommendations from sixth workshop
 
The European Platform for Patients’ Organisations, Science and Industry (EPPOSI) has released key outcomes and recommendations from its Sixth Workshop on Partnering for Rare Disease Therapy Development, held in London in late October 2005.

Amongst the conclusions reached, consensus building between stakeholders figured as being vital in order to foster understanding of each player’s specific needs. Concrete examples of this principle include understanding patients’ medical needs and the degree of risk patients are willing to accept; appreciating the challenges industry faces in developing innovation; ensuring equal access to screening and diagnostic services; blending epidemiological data gathering and information with demonstration of treatment safety and efficacy in order to create a better understanding of benefits; and harmonising treatment review and approval requirements amongst regulators.

Other key points mentioned include trust between all players, which could be fostered by increased communication. Partnerships were named as key to addressing specific issues impacting the research, manufacturing and distribution of treatments and ensuring that patients get proper access. Specifically, it was decided that patients must play an active role in identifying their treatment needs and taking part in risk versus benefits decisions. They should also have input in decisions involving health economics. Industry needs to take advantage of opportunities to develop rare disease products by sharing potential product candidates with third parties, exchanging expertise with other companies, and possible new clinical trial designs. Research needs to support academia and collaborate internationally; networking must be encouraged.

Regulators must find ways to harmonise clinical trial requirements in order to overcome the challenges of small populations, such as the agreement made by the EMEA and FDA on a common approach to annual reporting for orphan drugs. Biomarkers and surrogate end-points are other issues upon which regulators must come together.

Diagnostic availability for very rare diseases needs a framework that will ensure equity, perhaps modelled on the US network of public laboratories established to continue maintaining technology and expertise initially developed by research groups.

Other key outcomes stress the pivotal role of patients; the need for further awareness to stimulate research efforts, perhaps via a specific commitment to orphan drugs in each EU member state; the lack of formal authorisation for treatments for children which is being addressed by specific legislation; cultivating a truly global focus emphasising cooperation across borders in partnership with international organisations such as the WHO; and treatments for patients in developing countries via a shared responsibility approach involving manufacturers. Twinning research and clinical departments between developed and developing countries would benefit patients in poorer countries. Finally, sustained research funding was identified as an ongoing issue needing coordination internationally as well as by individual countries. A full report of the recommendations is available.

 
Expert group urges EU budget increase for research
 
Following the decision taken at the Hampton Court Summit of 27 October, 2005 to prioritise research and innovation, a group of four high-level experts, chaired by former Finnish prime minister Esko Aho, were asked to assess the situation in the EU and make recommendations. The group thus issued a report on 20 January urging European leaders to take urgent action and calling for a pact to be signed by political, business and social stakeholders. The experts state in their report that current trends are “unsustainable in the face of global competition” and introduce a four-pronged strategy designed to create innovation-friendly markets, strengthen R&D resources, increase structural mobility, and foster a climate that encourages innovation. Both e-Health and pharmaceuticals were named as key sectors requiring large-scale strategic actions. Specifically, the group called for wider changes in the application of the EU budget, recommending that structural funds for research and innovation be trebled.
 
ERC starts defining strategies
 
At this year’s 24-25 January meeting of the Scientific Council for the proposed European Research Council (ERC), the decision was taken to establish two funding channels: one for early-stage independent researchers and the other for frontier research projects undertaken by individual teams and researchers of any level of experience. The creation of the ERC was put forth by the EC in its Seventh Framework Programme (FP7) proposals for research and development to fund essential, investigator-led research through Europe-wide competition. The two-streamed funding strategy thus seeks to boost European excellence in frontier research and also remedy the inadequate support for researchers to achieve independence at an early stage in many parts of Europe. Although it is still unresolved whether ERC should be organised as an executive agency or an Article 171 initiative, the Scientific Council is moving forward with organisational arrangements.
 
Commission launches health information project
 
Health in Europe, co-financed with €1.4 million from the EU Public Health Programme and managed by the European Broadcasting Union, is a multimedia project including television and radio programmes, flash animations and extensive online content, designed to encourage the exchange of health information and create a network of public broadcasters and other media across Europe to improve information and knowledge for the development of public health. The project website contains a rare disease section and segments on William’s syndrome, Rett syndrome and cystic fibrosis are already available online. The topics on the website are related to existing TV programmes. The website includes a feature in which documents may be exchanged amongst users. Current participants include public service broadcasters from 10 European countries.
 
Open Health Forum 2005 publishes final report
 
The EU Open Health Forum, which took place in November 2005, has released its final report, available on the Europa website. The Open Forum is an annual conference, designed to provide a platform for networking and the exchange of ideas and views of different European health stakeholders. This year’s theme, Health Challenges and Future Strategy attracted some 380 participants from a wide range of organisations.
 
DG Research
 
Giving more for research in Europe
 
An expert group report commissioned by the European Commission’s Directorate-General for Research has released a report on the role of foundations and the non-profit sector in boosting R&D investment. Giving More for Research in Europe explores the definition and role of foundations, considers national differences, networking, and international dimensions and compares the role of foundations in the US and Europe in promoting research. A conference announced for 27-28 March, 2006 entitled Strengthening the role of philanthropy in the financing of research, will present and discuss the findings and recommendations of the expert group report and explore strategies and initiatives to strengthen the potential of philanthropy as a source of funding for research in Europe.
 
EMEA
 
EMEA adopts first positive opinion for similar medicinal product
 
The European Medicines Agency adopted its first positive opinion for a similar biological medicinal product. Omnitrope, manufactured by Sandoz GmbH, and intended for growth disturbance and hormone deficiency in children and adults, has been found similar in terms of quality, efficacy and safety to Genotropin, a product already authorised in the EU. The European Commission and the EMEA have worked actively to develop a legal and regulatory framework for similar biological products. The first guidelines, treating quality, non-clinical and clinical issues, were adopted by the CHMP in December 2003. A general regulatory guideline on similar biological medicinal products was adopted in September 2005. Further guidelines, including guidance for specific products, are planned for adoption in the first quarter of 2006.
 


 
National & International Policy Developments
 
Bulgaria releases its 2005 activity report
 
Bulgaria’s Information Centre for Rare Diseases and Orphan Drugs (ICRDOD) has released its 2005 activity report, demonstrating an ambitious year filled with various rare disease projects and initiatives and participation in regional, national and international activities. Statistics reveal an increase in public awareness of rare diseases in Bulgaria, demonstrated by the steadily growing number of visits to the website since its debut in October 2004.

For 2006, ICRDOD is working to add rare diseases to the national health strategy, lobbying for the adoption of a national plan for rare diseases, and the establishment of a ministry of health expert commission. A phone service and support centre are planned for patients and their families, as well as encouragement for the establishment of patient groups. Increasing public awareness is also a goal, via a guide for medical professionals, media releases, and interactive satellite workshops. Internationally, ICRDOD hopes to work in closer collaboration with Eurordis and Orphanet, participate in more RDTF activities, and network with comparable European centres. ICRDOD is currently preparing its second Eastern European Conference on Rare Diseases and Orphan Drugs, planned for 8-9 September 2006 in Plovdiv, Bulgaria. This year the conference will focus on fostering rare disease research in the region.

 
France celebrates National Plan for Rare Diseases with symposium
 
One year following the adoption of the National Plan for Rare Diseases 2005-2008, the French Ministry of Health took the pulse of the measure with a day-long event dedicated to reviewing the initiatives undertaken in the past year and elaborating on projects underway for 2006 and beyond. In its initial goal to “ensure equity in the access to diagnosis, treatment and provision of care” for people suffering from rare diseases, the National Plan for Rare Diseases determined ten strategic priorities: increasing knowledge of the epidemiology of rare diseases; recognising the specificity of rare diseases; developing information for patients, health professionals and the general public concerning rare diseases; training professionals to better identify rare diseases; organising screening and access to diagnostic tests; improving access to treatment and the quality of healthcare provision for patients; continuing efforts in favour of orphan drugs; responding to the specific needs of accompaniment of people suffering from rare diseases and developing support for patients’ associations; promoting research and innovation on rare diseases, notably for treatments; and developing national and European partnerships in the domain of rare diseases. Addressing these specific goals, professionals in the field presented their efforts and achievements in a series of sessions.

Information for health professionals and patients both within France and internationally is being ameliorated via a variety of initiatives. Orphanet, the European rare disease portal, saw a sharp increase in visits to its site. A revised format for the site is scheduled to appear in the autumn, offering a more user-friendly format, adapted to visitors with visual impairment. New facilities will also be available, including access to disease classifications and the possibility to query the database by disease category or by signs and symptoms. The help line Maladies Rares Info Service has collaborated with Orphanet in the production of information sheets on rare diseases destined for the general public, as well as participation in the study of a common framework for different telephone services to optimise the transmission of information, and the installation of a surveillance mechanism to identify the problems and difficulties – and thus needs – experienced by callers to the telephone help line. Another informational initiative is a pocket-size identity card created for patients needing specific medical attention, particularly useful in emergency situations. For rare disease patients, a half-dozen identity cards have thus far been designed. The card contains care instructions, including diagnostic, treatment, and contact person/institution details, as well as an information section, composed of a description and definition of the disease in question and a list of sources for further information. Information is equally available in English, designed for the travelling patient.
Read more about the National Plan for Rare Diseases symposium

 
England's NHS to boost high-quality patient-based research
 
The United Kingdom has introduced a new research strategy designed to simplify and promote National Health Service (NHS) research. With a commitment to spend €950 million annually on patient-based research, the strategy, entitled, Best Research for Best Health, aims to establish the NHS as an "internationally recognised research centre".

The new strategy seeks to remove blocks that have previously plagued research efforts, including bureaucratic barriers to clinical research, allocation of research funding on a historical basis, and restrictions on the collection and use of patients' data. Clinical research networks will be designed to support research covering all diseases and areas of patient need, including mental health, diabetes, children's diseases and medicines, neurodegenerative diseases and clinical genetics.

 
UK medical research hampered by strict interpretation of law
 
Researchers argued in the 21 January 2006 issue of the British Medical Journal that epidemiological research is being hindered by restrictive interpretation of the 1998 UK Data Protection Act, which is intended to accommodate medical research. A new report on the issue from the Academy of Medical Science calls for a clearer framework for the use of personal health data in research. Further evidence as to when the impact of consent seeking undermines the public interest in quality research was cited as necessary for developing a consensus.
 
Switzerland to send patients abroad in effort to reduce healthcare costs
 
In a reform package expected to come into effect 1 May 2006, designed to reduce national health service costs, Switzerland is proposing to send patients abroad to countries where treatments are cheaper. A pilot project in which patients will be reimbursed for treatments administered abroad by basic domestic insurance after local physicians have issued consent is being launched by Home Office Minister Pascal Couchepin. Although the specific treatments included in the project have not been named, inpatient care has been mentioned as a priority. The federal health department will monitor the scheme, and the quality of patient care as well as the economic viability of the measure will be examined. A region in neighbouring Germany has been cited as the probable destination for Swiss patients to receive care. In addition, the reform package seeks to reduce the cost of prescription medicines, introducing measures favouring generic versions of brand-name drugs and implementing an agreement with pharmaceutical companies designed to reduce drug prices by some 30%.
 
Les injustices de la naissance launched in Portuguese
 
The injustices of Birth, (ISBN 2-01235-540-4) a highly readable account of the world of genetics and the complexities that accompany the birth of a child with a rare disease, was written five years ago by Dr. Ségolène Aymé, director of Orphanet and leader of the Rare Disease Task Force. Now, the Portuguese non-profit group LINADEM (the National League for the Study and Support of Mental Deficiency) is pleased to announce the release of this important work in Portuguese.


Translated by Maria Candida Tavares da Silva and her husband Eng. Tavares da Silva, As Injustiças do Nascimento was presented last 24 January at the Gulbenkian Foundation in Lisbon. Dr. Aymé attended the ceremony, which was presided over by Dr. Prado Quintino (LINADEM president). Professors José Rueff (Department of Genetics, Medical Sciences Faculty – New University of Lisbon) and Rodrigues Gomes (Gulbenkian Foundation, Health Sciences Department) attended the event, as did a representative of the Social Security Ministry and translator Eng. Tavares da Silva.

More than an introduction to the field of genetic disorders, the text allows patients, their families, and health professionals to witness the unique scientific and human issues involved in the diagnosis of a rare disease, as experienced by the physician and the human being inside the white coat. All profits from sales of As Injustiças do Nascimento are being donated by Dr. Aymé to LINADEM, a private non-profit organisation founded in 1999 by parents and a team of health, education and rehabilitation professionals that offers support to individuals with mental deficiencies. LINADEM, offering three areas of intervention: family and parent counseling, specialised resources for social and educative support, and study and investigation, hopes this will be the first of many works translated into Portuguese that contribute to the better understanding and management of the human aspects of patients with rare diseases, by both professionals and the general public.

 
Other international news
 
FDA announces steps to advance earliest research stages in the US
 
The US Food and Drug Administration (FDA) has issued guidance documents, Exploratory IND Studies and INDs – Approaches to Complying with CGMP During Phase I designed to advance the earliest clinical research phases for innovative medical treatment development.

Specific approaches are laid out for researchers conducting early studies in humans, for performing adequate safety testing and safely producing small quantities of product. The changes will permit medical researchers in the US to more efficiently evaluate the early potential of medical products.

The guidance documents are part of the FDA’s Critical Path Initiative, constructed to reduce the time and resource expenditures on candidate products via newly created tools that can discern promising medical treatments earlier.

 
Birth defects cause over 3 million deaths annually in young children
 
A recently released publication from voluntary health group the March of Dimes reports that an estimated 7.9 million children are born each year with serious genetic or partially genetic birth defects. According to The Global Report on Birth Defects, which includes 193 countries in its study, 3.3 million children under five years of age die each year from serious birth defects. Predictably, the distribution of defects varies according to countries’ income. Some 60% of serious birth defects issue from poor countries, versus 34% from middle-income countries and 6% from countries considered wealthy.
 


 
Research in Action
 
EU project focus
 
EuroWilson - combating Wilson disease
 
Wilson Disease (WD) is an inherited disorder which may cause liver disease, progressive neurological abnormalities, haemolytic anaemia, abnormalities of the eye, and, less commonly, arthritis and kidney disease. WD is due to the abnormal storage of copper in the liver and in the basal ganglia. Treatments which remove copper from urine, such as penicillamine or trientine, or those with zinc salts that reduce the absorption of copper from the gut, and promote binding of copper within the liver to metallothionein have brought great benefit to individual patients. However, no clinical trials have compared these treatments to determine which is best for a particular sub-group of patients.

EuroWilson, funded for four years under the European Commission’s FP6 (contract LSHM-CT-2004-503430), includes 15 participating institutions from eight European countries and collaborates with teams from 19 European countries. Since the debut of the project in 2004, the following tasks have been accomplished:

The consortium, and particularly its Validation Committee and Genetics Group, have spent much time discussing how to improve diagnostic rigour.

A previously-suggested diagnostic score has been evaluated in a group of patients. The penicillamine challenge test has been evaluated in a group of children with liver disease, showing that it is of high sensitivity and specificity in children with active liver disease but performs poorly in presymptomatic family members. These data have guided the group's protocols for inclusion of cases into the database.

A secure access database, hosted by HC Forum, was launched in May 2005. Access is secured in a SSL (128bits) connection which is available only for authenticated smart card owners. The database has been designed to facilitate patient management. It provides scoring systems particularly useful in the long-term follow up of patients and validation of treatment efficacy. Data has been separated into ‘mandatory data’ (needed for every patient) and ‘optional data’ (needed for in depth analysis); for example, in every patient it is necessary to know if a liver biopsy was performed and if so, was it normal, fatty, showing mild portal changes, or cirrhotic. Then there will be an opportunity to use a modified Ishak score to give more details.

A network of seventy-four specialist country coordinators have been recruited in 61 centres. Ongoing training is accomplished by a mixture of visits, email contacts, and a telephone help line. A meeting of of these coordinators is planned in London for this coming June.

Visit the EuroWilson website for more information.

 
New diseases & syndromes
 
New diseases and syndromes published on PubMed
 
Neuropathic visceral dysmotility, brain cysts and calcifications, facial dysmorphism and developmental delay in two sibs. A new syndrome? European Journal of Medical Genetics 48(4) : 367-376
 
European Journal of Medical Genetics ; 367-376 ; October – December 2005
 
A familial syndrome of unilateral polymicrogyria affecting the right hemisphere
 
Neurology ; 133-135 ; January 2006
 
Acute hemorrhagic rectal ulcer syndrome: an emerging “new” entity
 
J Gastroenterol Hepatol ; 1949-1950 ; December 2005
 
Global developmental delay, osteopenia and ectodermal defect: A new syndrome
 
Brain & Development ; Epub ahead of print ; 17 December 2005
 
New genes
 
New rare disease genes published on PubMed
 
APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy
 
Nature Genetics ; 24-26 ; January 2006
 
Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene
 
Neurology ; 1930-1935 ; 27 December 2005
 
A mutation in myotilin causes spheroid body myopathy
 
Neurology ; 1936-1940 ; 27 December 2005
 
Deletion of the ANKRD15 gene at 9p24.3 causes parent-of-origin-dependent inheritance of familial cerebral palsy
 
Human Molecular Genetics ; 3911-3920 ; 15 December 2005
 
Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type
 
Nature Genetics ; 93-100 ; January 2006
 
A family with McLeod syndrome and calpainopathy with clinically overlapping diseases
 
Neurology ; 1832-1833 ; 13 December 2005
 
Familial sinus bradycardia associated with a mutation in the cardiac pacemaker channel
 
N Engl J Med ; 151-157 ; 12 January 2006
 
A New Kruppel-Associated Box-Containing Zinc-Finger Gene Involved in Nonsyndromic X-Linked Mental Retardation
 
Am J Hum Genet ; 265-278 ; February 2006
 
MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome
 
Nat Genet ; Epub ahead of print ; 15 January 2006
 
The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat
 
Nat Genet 2006 ; Epub ahead of print ; 15 January 2006
 
Spectrin mutations cause spinocerebellar ataxia type 5
 
Nat Genet ; Epub ahead of print ; 22 January 2006
 
Mutation of the LUNATIC FRINGE Gene in Humans Causes Spondylocostal Dysostosis with a Severe Vertebral Phenotype
 
Am J Hum Genet ; 28-37 ; January 2006
 
Double trouble in hereditary neuropathy: concomitant mutations in the PMP-22 gene and another gene produce novel phenotypes
 
Arch Neurol ; 112-117 ; January 2006
 
Eotaxin-3 and a uniquely conserved gene-expression profile in eosinophilic esophagitis
 
J Clin Invest ; 536-547 ; 1 February 2006
 
New clinical research
 
New clinical trials and research on Orphanet
 
A randomised, placebo-controlled, double-blind phase III study of the efficacy and safety of recombinant human C1 inhibitor (rhCINH) for the treatment of acute attacks (Pharming C1 1304-01)

An international multi-centre trial

Restoring Dystrophin expression in Duchenne Muscular Dystrophy: a phase I/II clinical trial using antisense oligonucleotides in Duchenne Muscular Dystrophy

A national multi-centre trial

To register your interest in participating in a clinical trial visit Orphanet.

 
New clinical research published on PubMed
 
Sustained recovery of progressive multifocal leukoencephalopathy after treatment with IL-2
 
Neurology ; 1510 ; 8 November 2005
 
Gentamicin treatment in McArdle disease: Failure to correct myophosphorylase deficiency
 
Neurology ; 285-286 ; 24 January 2006
 
A controlled trial of long-term inhaled hypertonic saline in patients with cystic fibrosis
 
N Engl J Med ; 229-40 ; 19 January 2006
 
Mucus clearance and lung function in cystic fibrosis with hypertonic saline
 
N Engl J Med ; 241-250 ; 19 January 2006
 
Calpain 10 and development of diabetes mellitus in cystic fibrosis
 
Journal of Cystic Fibrosis ; 47-51 ; 22 December 2005
 
Goal-oriented treatment and combination therapy for pulmonary arterial hypertension
 
Eur Respir J ; 858-863 ; November 2005
 
Substrate reduction therapy in the infantile form of Tay-Sachs disease
 
Neurolog ; 278-80 ; 24 January 2006
 
Creatine in Huntington disease is safe, tolerable, bioavailable in brain and reduces serum 8OH2'dG
 
Neurology ; 250-252 ; 24 January 2006
 
Detection of secretory IgA antibodies against gliadin and human tissue transglutaminase in stool to screen for coeliac disease in children: validation study
 
BMJ ; 213-214 ; 28 January 2006
 
Primary prevention of sudden death in patients with lamin A/C gene mutations
 
N Engl J Med ; 209-210 ; 12 January 2006
 
New therapeutic & diagnostic approaches
 
New therapeutic & diagnostic approaches published on PubMed
 
A cardiac myosin binding protein C mutation in the Maine Coon cat with familial hypertrophic cardiomyopathy
 
Human Molecular Genetics ; 3587-3593 ; 1 December 2005
 
Mecp2 deficiency disrupts norepinephrine and respiratory systems in mice
 
Journal of Neurosciences ; 11521-11530 ; 14 December 2005
 
Noninvasive monitoring of therapeutic gene transfer in animal models of muscular dystrophies
 
Gene Therapy ; 20-28 ; January 2006
 
Permanent partial phenotypic correction and tolerance in a mouse model of hemophilia B by stem cell gene delivery of human factor IX
 
Gene Therapy ; 117-126 ; January 2006
 
Isolated 6q terminal deletions: An emerging new syndrome
 
American Journal of Medical Genetics part A ; 74-81 ; January 2006
 
Discontinuing prophylactic transfusions used to prevent stroke in sickle cell disease
 
N Engl J Med ; 2769-2778 ; 29 December 2005
 
Mortality in patients with Klinefelter syndrome in Britain: a cohort study
 
J Clin Endocrinol Metab ; 6516-6522 ; December 2005
 
Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment Journal of Medical Genetics
 
Journal of Medical Genetics ; 1-11 ; January 2006
 
A developmental and genetic classification for malformations of cortical development
 
Neurology ; 1873-1887 ; 27 December 2005
 
Coenzyme Q10 deficiency and isolated myopathy
 
Neurology ; 253-255 ; 24 January 2006
 
Novel cell-penetrating alpha-keto-amide calpain inhibitors as potential treatment for muscular dystrophy
 
Bioorg Med Chem Lett ; 5176-5181 ; December 2005
 
Influence of the type of factor VIII concentrate on the incidence of factor VIII inhibitors in previously untreated patients with severe hemophilia A
 
Blood ; 46-51 ; 1 January 2006
 
Direct Diagnosis of Wilson Disease by Molecular Genetics
 
J Pediatr ; 138-140 ; January 2006
 
Managing complicated Crohn's disease in children and adolescents
 
Nat Clin Pract Gastroenterol Hepatol ; 572-579 ; December 2005
 
Treatment of acute lymphoblastic leukemia
 
N Engl J Med ; 166-178 ; 12 January 2006
 
Correction of the sickle cell mutation in embryonic stem cells
 
Proc Natl Acad Sci USA ; 1036-1040 ; 24January 2006
 
Nonmyeloablative hematopoietic stem cell transplantation for systemic lupus erythematosus
 
JAMA ; 527-535 ; 1 February 2006
 
Autism spectrum disorders: Molecular genetic advances
 
Am J Med Genet ; 13-23 ; 15 February 2006
 
Principle genetic syndromes and autism: from phenotypes, proteins to genes
 
Beijing Da Xue Xue Bao ; 110-115 ; 18 February 2006
 
Orphan drug research
 
Fostering research partnerships
 
United State's Director of the Office of Rare Diseases (ORD), Stephen C. Groft, has published a summary of research efforts and needs in the arena of rare diseases. Fostering Research Partnerships: A Perspective From the Office of Rare Diseases, was published in the journal Retina following the First International Symposium on Translational Clinical Research for Inherited and Orphan Retinal Diseases. The author delineates the efforts the ORD makes to support rare disease research, including the recent establishment of the Rare Disease Clinical Research Network.
 


 
PartnerSearch
 
Following a recently-published study demonstrating the high prevalence of Fabry disease in patents with stroke under 55 years of age in a prospective study, (The Lancet, 19 November, 2005, 1754-1756), the research team of Dr. Arndt Rolfs would like to contact groups that have collected DNA and plasma from patients with Fabry disease, especially female ones, for the analysis of detailed haplotypes and their association with specific phenotypes.

Please contact: Arndt Rolfs, MD
University of Rostock, POB 100888, 18055 Rostock, Germany
+49-381-494-9540

 


 
Funding opportunities
 
DG SANCO calls for proposals
 
Public health 2006 - Call for Proposals
 
Following the adoption of the 2006 work plan for the implementation of community action in the field of public health (2003-2008), the European Commission has launched the call for proposals ‘Public health — 2006’.

In the area of rare diseases, priority shall be given to generalist networks for improving information, monitoring and surveillance of these illnesses. Specific priority actions include: reinforcement of the exchange of information within existing European networks and the promotion of better classification and definition for rare diseases; the development of strategies and mechanisms for the exchange of information amongst patients, volunteers or professionals; the definition of relevant health indicators and the development of comparable epidemiological data at the EU level; the organisation of a Second European Conference on Rare Diseases in 2007 or 2008; the development of European centres of reference networks for rare diseases; and technical support for the exchange of best practice and development of measures for patient groups.

In terms of eHealth development, proposals are encouraged that support assessment, evaluation and further development of best practice projects on national and cross-border electronic medical records, e-referrals and e-prescriptions.

The deadline for the submission of proposals is 19 May 2006.

 
http://europa.eu.int/comm/health/ph_programme/howtoapply/call_for_propal_en.htm
 


 
Orphan Drugs
 
New designations & authorisations in Europe
 
At its meeting on 7 February, 2006, the EMEA’s Committee for Orphan Medicinal Products (COMP) adopted 1 positive opinion on orphan designation for medicinal products:

  • Human monoclonal antibody against HLA-DR, from GPC Biotech AG, for treatment of multiple myeloma (review time: 86 days)


  • EMEA COMP opinions in February 2006

    Details of all orphan designations and authorisations granted to date by the European Commission are entered in the Community Register of Orphan Medicinal Products

     
    New designations & authorisations in USA
     
    FDA approves new oncology product for two indications
     
    For the first time, the Food and Drug Administration (FDA) has approved a new oncology product for two indications simultaneously.The FDA has approved a new treatment, Sutent (sunitinib) for patients with gastrointestinal stromal tumors (GIST) and advanced kidney cancer. Sutent (Pfizer Inc.) received a priority review for treating GIST and was approved in less than six months. A tyrosine kinase inhibitor, it deprives tumor cells of blood and nutrients via multiple targets. Accelerated approval was granted for the treatment of advanced renal cell carcinoma (RCC), too. Sutent reduces tumor size in RCC patients while it delays tumor growth in GIST patients. Via the expanded access program, the FDA and the product sponsor collaborated to make the product available prior to approval to patients not enrolled in a clinical trial.
     
    http://www.fda.gov/bbs/topics/news/2006/NEW01302.html
     
    Read more...
     
    The 2 February 2006 issue of the New England Journal of Medicine contains a perspective piece by Marlene E. Haffner, director of the FDA Orphan Products Development Office. Adopting Orphan Drugs - Two Dozen Years of Treating Rare Diseases reflects upon the progress made in the United States since the Orphan Drug Act came into effect in 1982.Only ten orphan drug products had been developed in the decade prior to the passage of the Orphan Drug Act. Since the law's application, some 282 treatments have come to market for rare diseases - defined in the U.S. as an illness afflicting less than 200,000 of the country's population. Acknowledging the ongoing problems sufferers of rare diseases face, especially cost-related issues, the article ends on a note of hope, considering global applications of the Orphan Drug Act, and citing advances genomic medicine and other areas as bringing positive changes to the field of rare disease treatment.

    (To read an interview with Dr. Haffner, see the November 2005 issue of OrphaNews Europe).

     


     
    News from the Patients Associations
     
    EMEA releases assessment reports designed for patients and the public
     
    The European Medicines Agency (EMEA) has started to produce simplified summaries of their European public assessment reports (EPARs) written in a shorter, non-technical manner especially designed for patients and members of the general public. Containing descriptions of how the treatment functions, its indications, benefits and risks, and why it was accorded a positive authorisation recommendation by the EMEA, the simplified EPARs are part of a series of new provisions of the revised EU pharmaceutical legislation on the availability of improved medicine information. Written in a question and answer format, the summaries will only be published for newly authorised medicines initially, but eventually will be made available retroactively for all centrally authorised products on the market.
     
    UK pharmaceutical firms obliged to disclose patient group funding
     
    In a bid to increase transparency, pharmaceutical companies in the UK are now obliged to disclose all patient organisations receiving their financial support. Under a revision to the Association of the British Pharmaceutical Industry’s Code of Practice, effective 1 January 2006, details of funding provided and the nature of any relationship between industry and patient groups must be revealed. Now patient groups are being called on by the UK government to demonstrate an equal level of transparency. Patient organisations are a major marketing tool for pharmaceutical companies, and, conversely, many patient groups would not be able to survive without donations from drug firms. The revision was sparked by criticism of the drug industry in last year’s parliamentary health select committee report on the influence of pharmaceutical companies. The revision also includes measures to further patient safety with a requirement that all printed, promotional material include prominent information about reporting adverse drug reactions.
     
    Eurordis update
     
    Centres of reference for rare disease patients
     
    Eurordis considers the designation and implementation of centres of reference (CR) across Europe to be a strategic priority. Belgium, Denmark, France and the UK are all moving forward on the issue with a national approach while other countries have adopted regional strategies.

    Eurordis is adopting a step-by-step approach to promoting CR development, beginning with the recommendation of a combined national and European policy to foster collaboration and the integration of existing and potential national CRs into European networks. An EC funded project is planned, which will include advancing centres of reference amongst its goals, improving equitable access to rare disease diagnosis and treatment, and promoting quality clinical practices and research. Thus, centres of reference will be the main topic of the upcoming Eurordis Membership Meeting taking place this 5-6 May in Berlin. Daylong workshops and a plenary conference are planned, designed to share current information, practical experience and political perspectives.

     
    European Conference on Rare Diseases publication
     
    The report on the European Conference on Rare Diseases that took place on 21-22 June 2005 in Luxemburg is now available in electronic format in English. The report provides the opportunity to revisit a rich source of information on rare diseases. Topics such as diagnosis, research, treatment and care, national policies, patient networks and patients’ right are covered in depth in the document.
     
    Highlights from the Eurordis newsletter
     
    A parent in Italy shares his experience in caring for a child afflicted with recessive x-linked ichthyosis.

    Eurordis examines the 2006 EU budget and 2007-2013 financial perspectives. What are the consequences for rare diseases?

     


     
    Courses & Educational Initiatives
     
    Courses
     
    Stem cells advanced course
     
    The course Stem Cells and Therapeutic Applications is being offered through Genopole in Evry, France from 15-19 October 2006. Geared to post-doctorate and senior scientists wishing to enter stem cell research, topics include embryonic stem cells, mesenchymal stem cells, haematopoietic stem cells, and organ-specific stem cells and cloning. For further information:
     
    http://www.genopole.fr/stemcells-course/
     


     
    Press & Publications
     
    New books
     
    Bioimaging in Neurodegeneration
     
    Authors: Patricia A. Broderick, David N. Rahni, Edwin H. Kolodny
    Publisher: Humana Press, May 2005

     
    Molecular Mechanisms of Cardiac Hypertrophy and Failure
     
    Authors: Richard A. Walsh, Michael Schneider, Stephen Vatner
    Publisher: Taylor & Francis Group, September 2005

     
    Practical Preimplantation Genetic Diagnosis
     
    Authors: Yury Verlinsky and Anver Kuliev
    Publisher: Springer-Verlag, September 2005

     
    Bioimaging in Neurodegeneration
     
    Authors: Patricia A. Broderick, David N. Rahni, Edwin H. Kolodny
    Publisher: Humana Press, April 2005

     
    Illegal Beings: Human Clones and the Law
     
    Author: Kerry Lynn Macintosh
    Publisher: Cambridge University Press, August 2005

     
    Cleft Lip and Palate: Diagnosis and Management – Second Edition
     
    Author: Samuel Berkowitz
    Publisher: Springer, NY, November 2005

     
    Prenatal Tests – the facts
     
    Authors: Lachlan De Crespigny, Frank A. Chervenak
    Publisher: Oxford University Press, September 2005

     
    Telomeres
     
    Authors: Titia De Lange, Vicki Lundblad, Elizabeth Blackburn
    Publisher: Cold Spring Harbor, December 2005

     
    Gene Cloning and DNA Analysis - Fifth Edition
     
    Authors: Terry Brown and Gareth Schott
    Publisher: Blackwell Publishing, January 2006

     


     
    What's on where?
     
    In March
     
    2nd Annual Stem Cell Research & Therapeutics Conference
     
    Designed to examine some of the latest concepts, technical approaches, recent findings related to both embryonic and adult stem cells.

    Date: 2-3 March 2006
    Venue: Burlingame, California, USA

     
    http://gtcbio.com/confpage.asp?cid=16
     
    Supporting Genetics Education for Health
     
    A one day conference for healthcare professional educators to review key topics in genetics education, develop links and share resources and experiences.

    Date: 8 March 2006
    Venue: Birmingham, England

     
    http://www.geneticseducation.nhs.uk
     
    21st Int'l Winter Meeting on Growth and Death in the Nervous system
     
    The meeting features leading scientists in clinical and experimental neuropathology and neuroscience. Participants will be limited to 250.

    Date: 22-26 March 2006
    Venue: St. Moritz, Switzerland

     
    http://www.ssn.unizh.ch/stmoritz/home.html
     
    In April
     
    X-fragile Europe conference 2006
     
    The European X-fragile conference, X-fragile syndrome: 15 years on... organised by Association X-fragile Belgium with the support of the European parliament, will report on research programmes and future goals. Simultaneous translations will be available in English, French, Spanish and Italian.

    Date: 6-7 April 2006
    Venue: Liège, Belgium

     
    http://www.x-fragile.be/edito.htm
     
    New Frontiers in Basic Science of Cystic Fibrosis
     
    Organised jointly by the European Cystic Fibrosis Society and the Physiological Society.

    Date: 19-23 April 2006
    Venue: Carvoeiro, Portugal

     
    http://www.europeancfconference.org
     
    International Meeting on Anomalies of Sex Differentiation
     
    Presentations and round-table discussions on all aspects of sex differentiation issues.

    Date: 24-26 April 2006
    Venue: Rome, Italy

     
    http://www.rome2006meeting.com/
     
    In May
     
    OPBG Cardiovascular International: Ventricular dysfunction in childhood heart disease
     
    Limited space available.

    Date: 2-5 May 2006 2006
    Venue: Rome, Italy

     
    http://www.ospedalebambinogesu.it/portale/opbg.asp?IDitem=2824
     
    38th European Human Genetics Conference (EHGC)
     
    Organised in conjunction with the European meeting on the psychosocial aspects of genetics.

    Date: 6-9 May 2006
    Venue: Amsterdam, The Netherlands

     
    http://www.eshg.org/eshg2006/
     
    3rd International Workshop and Scientific Meeting
     
    Addressed to professionals from medicine, microbiology, infectology, and epidemiology working on the treatment, surveillance and control of leptospirosis.

    Date: 8-19 May 2006
    Venue: Havana, Cuba
    Email: carmen@ipk.sid.cu

     
    Baltic Congress of Laboratory Medicine
     
    Organized by the Lithuanian Society of Laboratory Medicine, Lithuanian Society of Human Genetics and Vilnius University together with the Latvian and Estonian Societies. The congress will offer a challenging programme focusing on the recent advances in different areas of laboratory medicine and human genetics.

    Date: 18-20 May, 2006
    Venue: Vilnius, Lithuania

     
    http://www.rachel.lt/congress/index.htm
     
    World Hemophilia Congress
     
    The congress will include 90-minute concurrent sessions, featuring state-of-the-art symposia, peer-reviewed abstract sessions and “Meet the Experts” meetings.

    Date: 21-25 May 2006
    Venue: Vancouver, Canada

     
    http://www.hemophilia2006.org
     
    11th annual Human Genome Meeting (HGM2006)
     
    Hosted by the Human Genome Organisation, attendance of some 800 delegates is expected.

    Date: 31 May-3 June 2006
    Venue: Helsinki, Finland

     
    http://www.hugo-international.org
     
    In June
     
    The 29th ECFS Conference
     
    Organised by the European Cystic Fibrosis Society.

    Date: 15-18 June 2006
    Venue: Copenhagen, Denmark

     
    http://www.europeancfconference.org
     
    Monothematic Conference: Genetics in liver diseases
     
    Jointly supported by the European Association for the Study of the Liver (EASL) and the American Association for the Study of the Liver.

    Date : 23-24 June, 2006
    Venue: Modena, Italy

     
    http://www.easl-aasld-monothematic2006.org/
     
    9th International Symposium on mucopolysaccharide and related diseases
     
    Featuring scientific and family programs. English and Italian translations available.

    Date: 29 June - 2 July 2006
    Venue: Venice, Italy

     
    http://www.congress2006mps.it/homeeng.html
     
    4th International Cystinosis Conference
     
    Families and professionals meet to discuss the challenges of everyday life for people with cystinosis as well as new scientific developments in the field.

    Date: 30 June-2 July 2006
    Venue: Noordwijkerhout, The Netherlands

     
    http://www.cystinosisfoundation.org/Netherlands/PROGRAMME_AMSTERDAM_2006.pdf
     
    In July
     
    12th International Scientific Meeting of the Velo-cardio-facial Syndrome Educational Foundation
     
    Organised by French association GENERATION 22, this congress unites professionals and families from Europe, Canada and the United States.

    Date: 7-9 July 2006
    Venue: Strasbourg, France

     
    http://www.generation22.asso.fr/
     
    4th European meeting on Elastin
     
    Several sessions focusing on elastin tissue disorders and treatments.

    Date: 9-12 July 2006
    Venue: Lyon, France

     
    http://www.ujf-grenoble.fr/BIO/elastin2006/
     
    In August
     
    11th International Congress of Human Genetics
     
    Held every five years, the 11th International Congress of Human Genetics is organised on behalf of the International Federation of Human Genetics Societies, and will be hosted by the Human Genetics Society of Australasia.

    Date: 6-10 August 2006
    Venue: Brisbane, Australia

     
    http://www.ichg2006.com/
     


     
    Orphanews Europe, the newsletter of the Rare Diseases Task Force
    Orphanews Europe is supported by the European Commission's DG SANCO
    and the French Muscular Dystrophy Association (AFM)
    Editor-in-chief: Dr Ségolène Aymé
    Editor: Louise Taylor
    Contact Us
    Editorial Board: Ségolène Aymé, Catherine Berens, Helen Dolk, Anders Fasth, Muriel Herasse, Edmund Jessop, Jordi Llinares-Garcia, Jérôme Parisse-Brassens, Helmut Popper, Elena Prats, John Ryan, Janos Sandor, Arrigo Schieppati, Rumen Stefanov, Domenica Taruscio, Joan Luis Vives Corrons
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