6 August 2008 print
Editorial
EU Policy News
Nat Pol News
ELS News
Orphanet News
New Syndromes
New Genes
Research in Action
Patient Man & Therapy
Orphan Drugs
Partnersearch, Job Opps
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Editorial
 
Rare disease platform project designed to foster collaboration and disseminate resource information gets underway
 


RareDiseasePlatform (RDPlatform), a three-year project supported through the European Union’s Seventh Framework Programme (grant agreement nr HEALTH-F2-2008-201230) designed to foster collaboration between rare disease research and development stakeholders throughout Europe had its official kick-off on 20 June. Picking up where FP6 OrphanPlatform left off, RDPlatform takes the products delivered under the OrphanPlatform project as the basis for its development. The overarching goal is to facilitate research in the field of rare diseases. In particular, tools developed to foster the collaboration between academic teams, SMEs and major companies will allow key players to identify each other more readily in order to work together with the shared aim of providing diagnostic and medical products as efficiently as possible. The project will also improve the identification of key research resources. In addition, the information gathered during the development of this project will provide funding agencies with an accurate and current vision of what is being sponsored at the national and international levels, thus providing a foundation for targeting future calls for proposals.


RDPlatform brings together organisations from 13 European countries to address the unmet needs of the European rare disease research community identified via the FP6 OrphanPlatform project. These include the need to identify and communicate the existence of expert groups, ongoing research projects, technological platforms, databases, patient registries and biobanks relevant to RD research throughout Europe. The project will also communicate the partnerships needs of researchers from academia and the biopharmaceutical industry. RDPlatform thus intends to contribute to the market transfer of innovative therapeutics, medical devices and diagnostic tools, and accelerate the research process on rare diseases. The Orphanet information portal will serve as the vehicle for disseminating data collected through RDPlatform.
Contact RDPlatform
 


 
EU Policy News
 
DG Research
 
Call for Experts
 
A European Commission call for the establishment of a database of independent experts to assist the Commission's services for tasks in connection with the Seventh Framework Programme (FP7) is open. Should you wish to express your interest for participating in future FP7 evaluation, review and/or monitoring tasks, you are welcome to register here.
For more information

 


 
National & International Policy Developments
 
France demonstrates its ongoing commitment to rare disease research with latest call for proposals
 
The results of the latest call for proposals from the French National Agency for Research (ANR) in the fields of biology and health illustrate the commitment France is continuing to make toward rare disease research. This year, for the first time since the creation of the national agency’s call for proposals, rare diseases were incorporated into the general calls for proposals for diseases, instead of having their own separate category. Any fears that such assimilation might cause rare disease research to be lost in the shuffle have been proven unfounded. The two call areas - one targeting neurological and psychiatric disorders and the other human physiopathology – each received a robust number of rare disease project proposals. Indeed, of the over 200 research project proposals received for each call, rare diseases represented 11% of the first group and 40% of the latter. The news gets even better when one looks to the results of the call: of 41 neurological/psychiatric projects chosen for funding, seven are for rare diseases (17% of the total). While in the area of physiopathology, 20 of the 41 projects chosen target rare disease research (49%). Each project is funded for an average of three years. The projects chosen this year cover the spectrum of rare disease pathology, including neurological, neurodegenerative, neuromuscular, metabolic, cardiology, and immune system diseases.
 
FDA amends regulation pertinent to foreign trials
 
In the USA, the Food and Drug Administration has altered regulation applying to foreign clinical studies involving drug or biological products that are not conducted under an investigational new drug application. The change replaces the requirement that such studies be carried out in accordance with the 1989 Declaration of Helsinki ethical principles. Under the new rule, trials must be conducted following good clinical practice, including review and approval by an independent ethics committee. The change in regulation updates existing standards and seeks to further protect human subjects as well as the quality and integrity of data. The new rule comes into effect on 27 October 2008.
Consult the new regulation in detail

 
Other European news
 
Mutation diagnostic tool Alamut receives a favourable review
 
In the 16 January 2008 issue of OrphaNews Europe, we reported on a new software application dedicated to mutation diagnostics. Alamut, developed by French company Interactive Biosoftware, is designed to rapidly and reliably interpret mutations by synthesising relevant molecular data and prediction methods within a consistent environment. Now, Manchester-based National Genetics Reference Laboratory, as part of the EuroGentest new technologies work programmes, has released an evaluation of Alamut based on four critical functions: user interface and usability; the suitability of data sources; applicability to diagnostic testing; and validity and accuracy. Testing over 400 variants from 14 genes, the report reveals that laboratories found Alamut “intuitive and easy to use”, providing “accurate and high quality nomenclature, often better than manually generated nomenclature”. Aside from a few glitches, the report concludes that the application has the potential to be a “great asset” for diagnostic laboratories. A new version of Alamut is now available, featuring the ability to annotate and store variants handled within the software.
Consult the evaluation

 
A lesson from Sweden: the overwhelming majority of patients consent to biobank practices
 
The attitudes of patients in Sweden toward biobank tissue storage and use could be informative for other countries currently defining regulations for this new and growing resource for research. An article recently published in the BMJ describes a high level of consent amongst Swedish patients to the storage or research usage of tissue samples. The study found consent refusal to be rare and the mechanisms in place to protect the small minority of patients who do not want their samples to be stored in biobanks or used in research were described as “costly and complex”.
 
Spanish protocol for diagnostic and treatment strategies for aniridia to be harmonised and expanded throughout Europe
 
In early May, experts gathered in Mallorca to collaborate efforts for the research, diagnosis and treatment of aniridia, a rare disease characterised by the clinical absence of the irides combined with severe amblyopia and nystagmus due to macular hypoplasia. The low prevalence of the disease, combined with a dearth of professional experience and the diversity of ocular alterations associated with the disorder make cooperation crucial in order to prevent repeated trials as well as to share and harmonise results so that research and care can move forward. The Spanish protocol for the management of patients with aniridia, written by Spanish ophthalmologists, will be presented at the next Congress of the Spanish Ophthalmologic Society in Sevilla in September 2008 and will serve as the base for the development of a European protocol, following an assessment by the meeting participants. Aniridia associations from Italy, Norway and France also participated in the meeting in Mallorca and have established a European network of patients with aniridia, which is working to foster research, raise awareness, and support families in order to improve their quality of life. “With the dissemination of these guidelines to all ophthalmologists in Spain, every patient with Aniridia will be better diagnosed and will receive the best and most current treatment, thus preventing degeneration, better preserving visual acuity, and avoiding unnecessary surgery,” remarked Yolanda Asenjo, president of the Spanish Aniridia Association.
 


 
Ethical, Legal & Social Issues
 
Portuguese group issues recommendations on commercial use of genetic tests
 
The National Council of Ethics for the Life Sciences (CNECV) of Portugal has approved recommendations concerning the commercial use of genetic tests – including direct-to-consumer tests. In brief, the CNECV offers the opinion that genetic tests for health-related purposes must not be offered directly to the public. Non-medical applications of genetic testing must follow the same requirements of quality assurance, transparency of claims and loyal advertising, if they are to be sold directly to consumers. In general, any kind of genetic testing must follow the principles of transparency and rigour in order to assure its quality and preserve the confidence of the public. Prior information about sensitivity, specificity and the predictive value of each test, and the evidence available for the specific population, as well as the possible personal and family implications of its results must be made available in a clear and easily accessible manner to enable informed decision-making. All genetic testing labs must have a quality system in place and assure privacy of their users and confidentiality of the information, and be subjected to appropriate licensing and certification, as well as to accreditation of the tests they offer. It was felt that regulation is needed to address these quality requirements.

Given the difficulties of regulating transborder flow of samples and tests being offered over the web, it was considered that there is an important place for harmonisation and international cooperation among regulating agencies, and that education of all the professionals involved and of the public at large will be of the utmost importance. Specifically, any health-related genetic tests must not be made available without medical prescription and follow-up; and, in the particular case of predictive testing, pre- and post-test genetic counselling must always be available. It is hoped that this will now be followed by effective legislation and regulatory efforts from the competent authorities.
Final recommendations (in Portuguese)

 
The Council of Europe adds a genetic testing protocol to its convention on human rights and biomedicine
 
The Council of Europe has adopted an Additional Protocol concerning genetic testing for health purposes to its Convention on Human Rights and Biomedicine, building on the existing principles embodied in the Convention. The overarching purpose of this addition is to “define and safeguard fundamental rights of the persons concerned by genetic testing for health purposes”. The scope of the protocol includes tests carried out for health purposes that involve analysis of biological samples and specifically seek to identify genetic characteristics of a person. Tests designed to determine parentage are excluded, as are tests on human embryos and foetus, and tests conducted for research purposes. The 24 articles of the protocol address the primacy of the human being; non-discrimination and non-stigmatisation; quality of genetic services; clinical utility; individualised supervision; information and genetic counselling; consent; tests on deceased persons; biological samples; information relevant to family members; and public information. The protocol will be re-examined within a five-year period.
 
Task force formed to create embryo screening code of practice
 
The European Society of Human Reproduction and Embryology (ESHRE) has formed a task force in order to develop ethical practices for pre-implantation embryonic screening by microarray. The development of the DNA-chip technology permits simultaneous chromosomal and genetic screening for thousands of specific anomalies – many of which are rare. The ESHRE task force seeks to investigate the use of embryonic screening by microarray and develop a corresponding code of ethical practice. In June, the British Fertility Society issued a set of guidelines on the use of pre-implantation genetic screening. Current concerns include the nuance between diagnosis of a specific disease for which the embryo is at high risk due to family history and the practice of screening for numerous other diseases for which there is no particular risk. Even experienced geneticists may be unable to accurately interpret information gleaned from the microarrays for a given disease. Consult the guidelines of the British Fertility Society
 


 
Orphanet News
 
Orphanet Journal of Rare Diseases receives first impact factor
 


As was reported in the 21 May edition of OrphaNews Europe, the Orphanet Journal of Rare Diseases (OJRD) has been accepted for tracking by Thomson and included in the ISI Web of Knowledge database. Last month, the OJRD received its first Impact Factor, an annual calculation that determines how often a review is cited in the scientific literature. In the 2007 edition of the Thomson Journal Citation Reports, the official 2007 Impact Factor for OJRD is 1.30. This assignment confirms the prominence and reputation that OJRD has achieved in its field. Since its debut in 2006, the journal has published a wide range of highly accessed and freely available articles concerning rare diseases and orphan drugs.

 
New Texts
 
New Orphanet Journal of Rare Diseases Publications
 
Cluster headache

Alpha-mannosidosis


 


 
New Syndromes
 
Terminal 14q32 deletions in two children with an abnormal phenotype and corpus callosum hypoplasia
 
Among previously reported cases of 14q terminal deletions, only 11 have dealt with pure terminal deletion of 14q (14q3-14qter) and the break points were mapped by fluorescent in situ hybridisation (FISH) or genotyping in only four of them. The authors here report two patients with terminal deletion of the long arm of chromosome 14, del(14)(q32.2) and del(14)(q32.32), diagnosed by subtelomere screening. In the two cases, a thick nuchal skinfold was detected by early ultrasound with normal prenatal karyotype. Their postnatal phenotype included large forehead, narrow palpebral fissures, epicanthic folds, upturned tip of the nose, narrow mouth and thin upper lip, microretrognathia, prominent earlobes, hypotonia, delayed psychomotor development and hypoplastic corpus callosum.
Read the PubMed abstract

 
Eur J Hum Genet ; 680-687 ; June 2008
 
Spondylocheiro dysplastic form of Ehlers-Danlos syndrome: an autosomal-recessive entity caused by zinc transporter mutations
 
The authors describe findings of six patients from two consanguineous families and presenting EDS-like features and a mild skeletal dysplasia. The EDS-like findings comprise hyperelastic, thin, and bruisable skin, hypermobility of the small joints with a tendency to contractures, protuberant eyes with bluish sclerae, hands with finely wrinkled palms, atrophy of the thenar muscles, and tapering fingers. The skeletal dysplasia comprises platyspondyly with moderate short stature, osteopenia, and widened metaphyses. A genome-wide SNP scan and sequence analyses identified in all patients a homozygous c.483_491 del9 SLC39A13 mutation that encodes for membrane-bound zinc transporter SLC39A13. These data suggest an entity that the authors have designated "spondylocheiro dysplastic form of EDS (SCD-EDS)" to indicate a generalised skeletal dysplasia involving mainly the spine and striking clinical abnormalities of the hands in addition to the EDS-like features.
Read the PubMed abstract

 
Am J Hum Genet ; 1290-1305 ; June 2008
 


 
New Genes
 
Meckel syndrome: identification of gene CC2D2A adds an important piece to the ciliopathy puzzle
 
Meckel syndrome (MKS) is a lethal malformation disorder characterised classically by encephalocele, polycystic kidneys, and polydactyly. MKS is also one of the major contributors to syndromic neural tube defects (NTDs). Recent findings have shown primary cilia dysfunction in the molecular background of MKS, indicating that cilia are critical for early human development. However, even though four genes behind MKS have been identified to date, they elucidate only a minor proportion of the MKS cases. In this study, the authors selected 10 nonrelated affected foetuses and looked for the homozygous regions shared by them. They identified the sixth locus and the fifth gene, CC2D2A (MKS6), behind MKS. The biological function of CC2D2A is uncharacterised, but the corresponding polypeptide is predicted to be involved in ciliary functions.
Read the PubMed abstract

 
Am J Hum Genet ; 1361-1367 ; June 2008
 
Autistic spectrum disorders: CSMD3 emerges as a candidate gene
 
The authors report on two unrelated male patients with de novo translocations, autistic behaviour and psychomotor delay. These two patients carry a balanced chromosome translocation t(5;8)(q14.3;q23.3) and t(6;8)(q13;q23.2), respectively. A detailed physical map covering the regions involved in the translocations was constructed using BAC clones mapping on chromosomes 5q14.3, 6q13 and 8q23. Fluorescence in situ hybridisation (FISH) analyses were carried out using these genomic clones. They fine mapped the two translocation breakpoints on chromosomes 8, which do not interrupt any known gene. However, both map in a region containing the CSMD3 gene, which thereby can be considered as a candidate for autistic spectrum disorders.
Read the PubMed abstract

 
Eur J Hum Genet ; 696-704 ; June 2008
 
Larsen syndrome and humero-spinal dysostosis: joint dislocations at birth caused by carbohydrate sulfotransferase 3 deficiency
 
Deficiency of carbohydrate sulfotransferase 3 (CHST3; also known as chondroitin-6-sulfotransferase) has been reported in a single kindred so far and in association with a phenotype of severe chondrodysplasia with progressive spinal involvement. The authors now report eight CHST3 mutations in six unrelated individuals who presented at birth with congenital joint dislocations. These patients had been given a diagnosis of either Larsen syndrome (three individuals) or humero-spinal dysostosis (three individuals), and their clinical features included congenital dislocation of the knees, elbow joint dysplasia with subluxation and limited extension, hip dysplasia or dislocation, clubfoot, short stature, and kyphoscoliosis developing in late childhood. Analysis confirmed functional impairment of CHST3 distinct from diastrophic dysplasia sulphate transporter (DTDST)-deficient cells. These observations provide a molecular basis for recessive Larsen syndrome and indicate that recessive Larsen syndrome, humero-spinal dysostosis, and spondyloepiphyseal dysplasia Omani type form a phenotypic spectrum.
Read the PubMed abstract

 
Am J Hum Genet ; 1368-1374 ; June 2008
 
Dyskeratosis congenita: mutations in the telomerase component NHP2 also implicated
 
Dyskeratosis congenita is a premature aging syndrome characterised by muco-cutaneous features and a range of other abnormalities, including early greying, dental loss, osteoporosis, and malignancy. Dyskeratosis congenita cells age prematurely and have very short telomeres. Patients have mutations in genes that encode components of the telomerase complex (dyskerin, TERC, TERT, and NOP10), important in the maintenance of telomeres. Many dyskeratosis congenita patients remain uncharacterised. Here, the authors describe the analysis of two other proteins, NHP2 and GAR1. Patients with dyskerin, NOP10, and now NHP2 mutations have all been shown to have low levels of telomerase RNA in their peripheral blood, providing direct evidence of their role in telomere maintenance in humans.
Read the PubMed abstract

 
PNAS ; 8073-8078 ; 10 June 2008
 
Legg-Calvé-Perthes disease, premature hip osteoarthritis, avascular necrosis of the femoral head: COL2A1 mutation identified
 
The authors determine factors responsible for the distinct phenotypes of osteoarthritis (OA), avascular necrosis (AVN) of the femoral head, and Legg-Calvé-Perthes disease in 16 members of a single family. A p.Gly1170Ser mutation of COL2A1 cosegregated with the 3 diseases and was absent in controls. Of note, age at onset in relation to the closure status of the femoral head epiphysis was associated with the diseases, with Legg-Calvé-Perthes disease presenting prior to closure (at ages 6-14 years), AVN of the femoral head presenting during closure (at ages 15-18 years), and precocious OA of the hip presenting after closure (at ages 21-34 years). Molecular modeling predicted that the serine-to-glycine substitution loosens the helical structure of the protein. The authors conclude that the p.Gly1170Ser mutation of COL2A1 in the family described is responsible for pathology confined to the hip joint, which presents as isolated precocious hip OA, AVN of the femoral head, or Legg-Calvé-Perthes disease.
Read the PubMed abstract

 
Arthritis Rheum ; 1701-1706 ; June 2008
 


 
Research in Action
 
Fundamental Research
 
Kartagener syndrome: sequence analysis of 21 genes located in the linkage region on chromosome 15q
 
The authors of this study previously identified a 3.5 cM (2.82 Mb) region on chromosome 15q linked to Kartagener syndrome (KS), a subtype of primary ciliary dyskinesia characterised by the randomisation of body organ positioning. They have now refined the KS candidate region to a 1.8 Mb segment containing 18 known genes. The coding regions of these genes and three neighbouring genes were subjected to sequence analysis in seven KS probands, and the authors were able to identify 60 single nucleotide sequence variants, 35 of which resided in mRNA coding sequences. However, none of the variations alone could explain the occurrence of the disease in these patients.
Read the PubMed abstract

 
Eur J Hum Genet ; 688-695 ; June 2008
 
Long QT syndrome: mechanisms of cardiac arrhythmias and sudden death revealed in transgenic rabbits
 
Long QT syndrome (LQTS) is a heritable disease associated with ECG QT interval prolongation, ventricular tachycardia, and sudden cardiac death in young patients. Among genotyped individuals, mutations in genes encoding repolarizing K+ channels (LQT1: KCNQ1; LQT2: KCNH2) are present in approximately 90% of affected individuals. Expression of pore mutants of the human genes KCNQ1 (KvLQT1-Y315S) and KCNH2 (HERG-G628S) in the rabbit heart produced transgenic rabbits with a long QT phenotype. Prolongations of QT intervals and action potential durations were due to the elimination of IKs and IKr currents in cardiomyocytes. The authors’ results have implications for understanding the nature and heterogeneity of cardiac arrhythmias and sudden cardiac death.
Read the PubMed abstract

 
J Clin Invest ; 2246-2259 ; June 2008
 
Long QT syndrome type 3: the E1784K mutation in SCN5A is associated with a mixed clinical phenotype
 
Phenotypic overlap of long QT syndrome type 3 (LQT3) with Brugada syndrome (BrS) is observed in some carriers of mutations in the Na channel SCN5A. While this overlap is important for patient management, the clinical features, prevalence, and mechanisms underlying such overlap have not been fully elucidated. The authors genotyped a cohort of 44 LQT3 families of multiple ethnicities and found a high prevalence of the E1784K mutation in SCN5A. Of 41 E1784K carriers, 93% had LQT3, 22% had BrS, and 39% had sinus node dysfunction.
Read the PubMed abstract

 
J Clin Invest ; 2219-2229 ; June 2008
 
Clinical Research
 
Hypohidrotic ectodermal dysplasia: Mutation screening of the Ectodysplasin-A receptor gene EDAR
 
Hypohidrotic ectodermal dysplasia (HED) can be caused by mutations in the X-linked ectodysplasin A (ED1) gene or the autosomal ectodysplasin A-receptor (EDAR) and EDAR-associated death domain (EDARADD) genes. X-linked and autosomal forms are sometimes clinically indistinguishable. For genetic counselling in families, it is therefore important to know the gene involved. In 24 of 42 unrelated patients with features of HED, the authors found a mutation in ED1. ED1-negative patients were screened for mutations in EDAR and EDARADD. They found mutations in EDAR in 5 of these 18 patients. Clinically, there was a difference between autosomal dominant and autosomal recessive HED patients. This study confirms earlier finding that mutations in EDAR account for approximately 25% of non-ED1-related HED. Patients with homozygous or compound heterozygous mutations in the EDAR gene have a more severe phenotype than those with a heterozygous missense, nonsense or frame-shift mutation.
Read the PubMed abstract

 
Eur J Hum Genet ; 673-679 ; June 2008
 
Severe infantile encephalomyopathy can be caused by a mutation in COX6B1
 
Cytochrome c oxidase (COX) deficiency, one of the most common respiratory-chain defects in humans, has been associated with mutations in either mitochondrial DNA genes or nucleus-encoded proteins that promote the biogenesis of COX. Mutations of nucleus-encoded structural subunits were sought for but never found in COX-defective patients, leading to the conjecture that they may be incompatible with extra-uterine survival. The authors report a disease-associated mutation in one such subunit, COX6B1. They suggest that nuclear-encoded COX genes be reconsidered and included in the diagnostic mutational screening of human disorders related to COX deficiency.
Read the PubMed abstract

 
Am J Hum Genet ; 1281-1289 ; June 2008
 
Muscular dystrophy: MYO-029 proves safe in adult subject trial
 
The authors tested a neutralizing antibody to myostatin, an endogenous negative regulator of muscle growth and a novel target for muscle diseases. A safety trial of MYO-029 in adult muscular dystrophies (Becker muscular dystrophy, facioscapulohumeral dystrophy, and limb-girdle muscular dystrophy) was conducted using 116 subjects divided into sequential dose-escalation cohorts, each receiving MYO-029 or placebo. This trial supports the hypothesis that systemic administration of myostatin inhibitors provides an adequate safety margin for clinical studies.
Read the PubMed abstract

 
Ann Neurol ; 561-571 ; May 2008
 
Gene Therapy
 
Leber congenital amaurosis: two trials examine gene therapy for visual function
 
Early-onset, severe retinal dystrophy caused by mutations in the gene encoding retinal pigment epithelium-specific 65-kD protein (RPE65) is associated with poor vision at birth and complete loss of vision in early adulthood. In two separate studies, researchers administered subretinal injections of recombinant adeno-associated virus vector 2/2 expressing RPE65 complementary DNA (cDNA). In one trial, there was no clinically significant change in visual acuity or in peripheral visual fields on Goldmann perimetry in any of the three patients. One patient had significant improvement in visual function on microperimetry and on dark-adapted perimetry. In the other trial, a modest improvement in measures of retinal function was reported on the three subjects tested.
Read the first PubMed abstract
Read the second PubMed abstract

 
NEJM ; 2231-2239 ; 22May 2008
NEJM ; 2240-2248 ; 22May 2008

 


 
Patient Management and Therapy
 
Turner syndrome: a review on the literature concerning clinical treatment
 
Turner syndrome (TS) is a genetic disorder associated with abnormalities of the X chromosome and characterised by reduced adult height, gonadal dysgenesis, premature ovarian failure and infertility. The authors compare recent literature on TS, delineating areas of agreement, areas of controversy and areas for which research is needed.
Read the PubMed abstract

 
Br Med Bull ; 77-93 ; April 2008
 
Guillain Barre syndrome: a clinical review
 
A recent issue of the BMJ features a clinical review of Guillain-Barre syndrome. The educational article presents an overview of the disease, including clinical features, prevalence, diagnosis, and tips for the non-specialist, including treatment strategy and outcome prediction. Guillain-Barre syndrome is a rare disease that can lead to life threatening respiratory failure. Structural similarities between a triggering infectious organism and peripheral nerve tissue are important in its pathogenesis. Around 10% of patients die from respiratory failure, pulmonary emboli, or infection. Some 20% of patients have residual disability, with weakness or persistent sensory disturbance. Treatment consists of rapid administration of intravenous immunoglobulin or plasma exchange, which shortens the time to recovery.
Read the summary of the article

 
BMJ ; a671 ; 26 July 2008
 


 
Orphan Drugs
 
Eight EMEA orphan drug designations for July
 

The COMP (Committee for Orphan Medicinal Products) adopted the following eight positive opinions on orphan medicinal product designation at its July meeting for the treatment of:

- cystic fibrosis (2 products)
- acute respiratory distress syndrome
- cutaneous T-cell lymphoma
- partial deep dermal and full thickness burn wounds
- acute lymphoblastic leukaemia
- prevention of delayed graft function after solid organ transplantation
- atypical haemolytic uraemic syndrome (aHUS) associated with an inherited abnormality of the complement system
Consult the European Registry for Orphan designations
Consult the Orphanet list of orphan drugs authorised for marketing in Europe

 
Positive CHMP opinion for histamine dihydrochloride as maintenance treatment in adults with acute myeloid leukaemia
 
Following the re-examination of the negative opinion adopted on 19 March 2008, the Committee for Medicinal Products for Human Use (CHMP) has recommended marketing authorisation for Ceplene (histamine dihydrochloride), from EpiCept GmbH, intended to be used as maintenance treatment in combination with interleukin-2 in adults with acute myeloid leukaemia. Ceplene is the 48th orphan medicine to receive a positive opinion.
 
Negative opinion for Friedreich Ataxia treatment
 
The Committee for Medicinal Products for Human Use (CHMP) adopted a negative opinion recommending the refusal of a marketing authorisation for Sovrima (idebenone), from Santhera Pharmaceuticals GmbH. Sovrima was intended to be used for treatment of Friedreich’s Ataxia and had received an orphan designation. A question-and-answer document is available.
 


 
Partnersearch, Job Opportunities
 
Call for referrals: Mendes da Costa syndrome
 
Mendes da Costa syndrome is a rare X-linked recessive disease that has been described in only one Dutch and one Italian family. Ongoing research seeks to gain insight into the causative genetic defect of the disease. To accommodate these efforts the researchers are searching for more patients from the known or additional families. The patients might not have been recognised as having this particular syndrome, due to overlap of symptoms with other syndromes. This disease affects men; women can only be carriers. The following clinical symptoms characterise this syndrome: Appearance of bullae on the skin in the first months after birth until the third year followed by pigmentary changes leading to spotted skin (a form of poikiloderma); Hair loss, including the eyebrows and eyelashes from birth until the age of 3 months; Delay in growth and psychomotor development; Microcephaly; A supravalvar aortic or pulmonary stenosis, maybe with left/right ventricular hypertrophy; possibly cerebral aneurysms; Acrocyanosis and/or short conical-shaped fingers; Delayed teeth development; Small testes.

Most documented patients died before the age of 30. The cause of death in early generations was primarily infection-related (tuberculosis, pneumonia). In later generations, the cause of death was more often due to carcinomas (head-neck tumors, lymphoproliferative disorders) or vascular problems (cerebral aneurysms). The researchers ask physicians to put them in contact with or inform them about potential patients and their family members. In view of the clinical symptoms, patients may be known by paediatricians, dermatologists, cardiologists, and/or oncologists. Additionally, the researchers are interested in receiving information regarding any deceased patients.

Contact Dr. D.Q.C.M. Barge-Schaapveld of the Amsterdam Medical Center
Contact Dr. F.H. Menko of the VU University Medical Center in Amsterdam
Consult the full call for referrals (with images)

 


 
What's on Where?
 
International Society for Genetic Eye Diseases and Retinoblastoma Meeting 2008
 
Date: 28-30 August 2008
Venue: Strasbourg, France

This meeting will include novel therapies for inherited eye diseases and retinoblastoma; molecular diagnosis of inherited eye diseases and retinoblastoma; phenotype/genotype analysis; update on management issues; and interactive sessions on rare cases, with short clinical presentations.
For further details

 
Inaugural Birt Hogg Dube Syndrome Symposium
 
Date: 3 September 2008
Venue: Roskilde, Denmark

Laboratory research session in the morning and a clinical session in the afternoon. Keynote presentation and opportunity for a number of short talks in each session. There will be poster presentations. This is an opportunity for researchers and clinicians to present their work, share ideas and set up collaborations to promote BHD research and to establish screening guidelines for BHD patients.
For further details

 
6th International Conference on Frontotemporal Dementia
 
Date: 3-5 September 2008
Venue: Rotterdam, The Netherlands

Symposium highlights include: Caregivers burden; Early onset dementia AD; Genetic Counseling; Aphasic syndromes; Tau; Progranulin; TDP-43 protein; Genetics of the FTD; ALS spectrum; Animal and Cell Models; Neuropathology and biochemistry of FTD; Clinical spectrum FTD; Pharmacological treatments; and more.
For further details

 
19th European Meeting on Dysmorphology
 
Date: 4-5 September 2008
Venue: Strasbourg region, France

Sessions will focus on MCA/MR syndromes; foetal pathology; new microdeletion/duplication syndromes; dysmorphology and esophageal atresia/tracheoesophageal fistula.
For more information

 
First AnEUploidy Workshop
 
Date: 12-14 September 2008
Venue: Geneva, Switzerland

The AnEUploidy integrated project aims to contribute to the understanding of the molecular basis and pathogenic mechanisms of aneuploidies. With the aim of furthering the primary objectives of this project, this international workshop will share and discuss the newest results in this field. A limited number of junior travel fellowships will be granted.
For further details

 
15th Paediatric Rheumatology European Society Congress
 
Date: 14-17 September 2008
Venue: University College London, UK

The programme will cover four main topics through keynote lectures, abstract presentations and educational workshops: juvenile arthritis, juvenile dermatomyositis, vasculitis and pain. There will be novel symposia such as sport and exercise in young people.
For further details

 
2nd Congress of Ring14 International Association for Rare Neurogenetic Diseases Research
 
Date: 25-27 September 2008
Venue: Reggio Emilia, Italy

An interesting and varied programme for professionals, patients and their families.
For further details

 
13th International Meeting of the World Muscle Society
 
Date: 29 September-2 October 2008
Venue: Newcastle upon Tyne, UK

New Insights into the pathogenesis of facioscapulohumeral muscular dystrophy, myotonic dystrophy and other dominant muscular dystrophies, Advances in the understanding and treatment of myasthenic disorders, Therapeutic advances in neuromuscular disorders, Advances across the neuromuscular field, including treatment and management.
For further details

 
Rare Diseases Warsaw 2008: MPS and Rare Diseases Conference
 
Date: 3-5 October 2008
Venue: Warsaw, Poland

The purpose of the conference is to introduce aspects of treatment and specialised medical care for rare genetic diseases and to strengthen cooperation and the exchange of experience between scientific environments and government institutions, as well as patient associations from Central and Eastern Europe.
For further details

 
International Conference on Thalassaemia and Haemoglobinopathies
 
Date: 8-11 October 2008
Venue: Singapore

The 11th International Conference on Thalassaemia and Haemoglobinopathies and the 13th International Thalassaemia TIF Conference for Thalassaemia Patients and Parents. "Equal Access to Quality Medical Care for Every Patient with Thalassaemia" is the theme of this year's conferences.
For further details

 
International Conference on Genetic and Molecular Basis of Rare Kidney Disorders
 
Date: 9-11 October 2008
Venue: Bergamo, Italy

This conference will bring together research geneticists, nephrologists, clinicians and experts from related specialties to discuss the latest findings on and around the core themes of rare kidney diseases. The speakers will cover a varieties of topics: glomerular filter structure and function in health and diseased states, genetic basis of glomerular diseases (Focal and Segmental Glomerulosclerosis, Hematuric Syndromes, Dense Deposit Diseas), inherited disorders of tubular function, and renal developmental disorders. The Conference Keynote lecture will be delivered by Nobel Laureate professor Peter Agre, who will discuss the impact that the discovery of aquaporins has had on the understanding of physiologic and pathologic states.
For further details

 
6th World Rett Syndrome Congress
 
Date: 10-13 October 2008
Venue: Paris, France

Various aspects of Rett syndrome and MECP2 functioning, including fundamental, clinical and management topics.
For further details

 
Tenth International Meeting on Osteogenesis Imperfecta
 
Date: 15-18 October 2008
Venue: Ghent, Belgium

Topics include: Bone homeostasis, murine models/collagen biology/biophysics, classification, genetics: genotype-phenotype, prenatal diagnosis/preimplantation diagnosis, biphosphonates, orthopedic management, hearing loss: physiopathology, surgery and imaging, other medical management issues, stomatology/dentistry, psychosocial aspects, new (therapeutic) perspectives.
For further details

 
EPPOSI 9th Workshop on Partnering for Rare Diseases Therapy Development
 
Date: 16-17 October 2008
Venue: Paris, France

Mark your calendars for the 2008 EPPOSI workshop, taking place at the National Assembly in Paris. The theme of the workshop is Orphan drugs: partnering along the chain and across the borders - Sharing strategies and tools for access to diagnosis and treatment.
For further details

 
Dystonia Europe 2008
 
Date: 17-19 October 2008
Venue: Hamburg, Germany

This conference will provide a forum for discussion of the latest developments in clinical features, treatment and research of dystonia, with presentations from a broad range of leading experts from Europe and North America.
For further information

 
ESF-UB Conference in Biomedicine: Biobanks
 
Date: 1-6 November 2008
Venue: Sant Feliu de Guixols, Spain

The ESF-UB Conference on Biobanks will be focused on providing an open forum of discussion on all aspects involved in the governance, management and use of human biobanks, technical solutions, ethical, legal, and social aspects, also providing participants with a broad overview of the existing models of biobanks and the international initiatives on population-based and disease-oriented biobanks.
For further information

 
Rare Tumors in Europe: Challenges and Solutions
 
Date: 6 November 2008
Venue: Brussels, Belgium

Details to follow shortly.
For further information

 
8th Balkan Meeting on Human Genetics
 
Date: 14-18 May 2009
Venue: Cavtat, Croatia

"Rare diseases – public policy, research, diagnosis and management" is one of the topics featured in this conference. Deadline to submit an abstract is 20 January 2009.
For further information

 


 
Press & Publications
 
Industry group annual report defines criteria needed for orphan treatments to move forward
 
The European Biopharmaceutical Enterprises (EBE) has issued its 2007-2008 Annual Report. EBE represents biopharmaceutical companies of all sizes operating in Europe and contributes toward formulating European- and global-level policies as well as providing industry expertise toward the development of regulatory frameworks, guidelines and standards. Promoting good practice exchanges is a key aim. In the field of orphan medicinal products, the Annual Report reveals that the EBE is playing an active role in orphan drug policy and regulatory topics. Companies from the EBE participated in a task force developing recommendations submitted during the consultation period of the European Commission Communication Rare Diseases: Europe’s Challenge. Specifically, the annual report highlights the three main criteria orphan treatment development needs in order to move forward: greater acknowledgement that orphan drugs target debilitating, often life-threatening conditions for which no treatment exists; creative solutions to the issues disease rarity pose to the clinical development, regulatory requirements and reimbursement of products; and more urgency in establishing efficient member state-level reimbursement schemes that would ensure patients early access to treatment.
Read the full annual report

 


 
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: Ségolène Aymé
Editor: Louise Taylor
Contact Us
Editorial Board: Ségolène Aymé, Lucile Abdennaji, Catherine Berens, Helen Dolk, Anders Fasth, Laura Fregonese, Edmund Jessop, Jordi Llinares-Garcia, Antoni Montserrat, Manuel Posada de la Paz, Ewa Pronicka, Claire Scharf-Kroener, Armelle Regnault, Janos Sandor, Domenica Taruscio, Paloma Tejada, T.O.F. Wagner
For more information on the Rare Diseases Task Force
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