19 October 2011 print
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EUCERD/EMA workshop drives forward a public-private partnership model for rare disease registries

On 4 October, stakeholders gathered at the Canary Wharf, London-based European Medicines Agency for a brainstorming session on how to best design, manage and share rare disease registries in a way that will be purposeful and satisfying for all players. Experts from academia, the biopharmaceutical industry, patient organisations, and regulatory agencies all lent their expertise to the event, which culminated in a consensus towards disease-based registries that could ultimately be shared amongst all relevant public and private partners. This consensus, shifting from the drug- or patient-based designs to a larger-encompassing disease-based model, moves forward the challenge of how to coordinate, manage and share the goldmine of data that the disease registries potentially yield.

Well constructed and managed rare disease registries can significantly speed up clinical research in the fields of rare diseases and orphan drugs, further the understanding of many elements including prevalence, natural history, and treatment outcome for rare diseases, provide regulatory bodies – including pricing and reimbursement agencies - with crucial data, serve as a resource for trial recruitment, and help patient organisations to coordinate efforts and share information.

The EUCERD/EMA workshop, organised in the context of the ongoing scientific activities of the EU Committee of Experts on Rare Diseases (EUCERD) dedicated to registries in the field of rare diseases, builds upon the Rare Diseases Task Force (RDTF) report, Patient registries in the field of rare diseases, based on outcomes of the 2008 RDTF workshop on this field, updated in 2011, as well as the report in preparation on Creation of a mechanism for the exchange of knowledge between Member States and European authorities on the clinical added-value of orphan drugs (CAVOD) and the Orphanet Report Series Disease registries in Europe.

Future meetings already being planned will tackle the complex questions of how to protect important privacy rights for industry, academic and patient registry partners, how to manage post-marketing authorisation data for orphan drugs, how to coordinate at an international level, and harmonisation between registries. The EpiRare project (European Platform for Rare Disease Registries) launched in April 2011, seeks to gather more information on the needs of stakeholders, while the International Rare Disease Research Consortium brings to the table the international perspective, expectations and experience. Yes, there is much to be done, but the EUCERD/EMA workshop took a big step forward on 4 October.

EUCERD update
New EUCERD report takes stock of the pilot European reference networks in the field of rare diseases
In the European Union, the Council Recommendation on an action in the field of rare diseases, adopted in June 2009, calls for the identification and establishment of reference networks for rare diseases. The Cross-Border Health Care Directive, adopted on International Rare Disease Day 2011, seeks to facilitate access to health care for EU citizens and thus encourages cooperation between EU Member States in the field of health. Within this context, and as part of its objectives to survey the initiatives and incentives in the field of rare diseases, the European Union Committee of Experts on Rare Diseases (EUCERD) has issued a new report entitled the Preliminary Analysis of the Outcomes and Experiences of Pilot European Reference Networks for Rare Diseases.

Considering the experience of EC-funded pilot European Reference Networks (ERNs) and other EC-funded networks for rare diseases, the report offers conclusions and recommendations which will help better define the objectives and goals of future ERNs, taking into account the specifics of the Council Recommendation and of the Cross-Border Health Care Directive. The EUCERD report highlights that for the ERNs, specific concepts need to be defined and stabilised, national-level expertise needs to be identified and designated, and, in terms of organisation, the ERNs need to be genuine infrastructures, ideally “coordinated by an expert in networking whose position is financed at European level”. A mechanism for evaluating the ERNs also needs to be developed. How best to support existing ERNs and also identify new ones must be worked out, and the ever-present issues of financing and sustainability need to be addressed.

While the work around identifying, designating and coordinating rare disease expertise at the Member State- and EU-levels may seem daunting, once in place, such networks have the potential to streamline research and services for rare disease patients across Europe and to significantly enhance efficiency in the field, reducing duplication of effort, and expanding access on a more equitable basis. The new EUCERD report moves these goals forward by offering an analysis of the first endeavours in the field.
Consult the EUCERD report


EU Policy News

White paper finds European biomedical research doing well – recommendations echo rare disease research findings
The European Science Foundation (ESF) is an independent, non-governmental organisation that promotes collaboration in scientific research, funding of research and science policy across Europe. Its members are 79 national funding and research-performing organisations and learned societies from 30 countries. The ESF has just released a White Paper that takes stock of biomedical research in Europe and concludes that Europe is more than holding its own in the field, despite funding limitations. The paper, A Stronger Biomedical Research for a Better European Future, follows a previous White Paper, Present Status and Future Strategy for Medical Research in Europe, published four years ago. The new paper compares European research with international collaborators and highlights challenges in the field. Rare disease research, particularly the field of gene therapy, is taken as an example of how biomedical research can impact society in the report. The report also makes reference to translational research, citing the USA’s National Institutes of Health Therapeutics for Rare and Neglected Diseases programme. The report offers five key recommendations - versions of which are frequently echoed in rare disease policy documents and stakeholder meetings. The recommendations include involving patients in research, boosting translational research, increasing international cooperation, promoting transparency and openness, and expanding financial investment.
Consult the White Paper

Nordic researchers' Open Letter draws attention to Data Protection law changes potentially harmful to rare disease research
An Open Letter from researchers in the Nordic region brings attention to proposed changes in the European Data Protection Directive that could hinder the research use of data. The issue comes at the same time that registries and repositories are increasingly recognised as key instruments to forwarding rare disease knowledge, research and treatment. The authors of the Open Letter urge for a balance between protecting individual rights while allowing registries, databases and repositories to continue serving as rich evidence-based resources that further the understanding, prevention and management of both rare and common diseases.
Consult the Open Letter
Learn more about Data Protection Directive 95/46/EC


EMA invites expressions of interest for membership to its Committee for Orphan Medicinal Products and other committees
The European Commission has launched a call for expressions of interest to replace patient organisation representative members of the European Medicines Agency's Committee for Orphan Medicinal Products (COMP). Along with members of the Agency’s Committee for Advanced Therapies (CAT) and Management Board, whose three-year mandates expire in 2012, expressions of interest are also being sought for the EMA’s new Pharmacovigilance Risk Assessment Committee (PRAC) created to assess the safety of medicines authorised in the European Union. The calls invite representatives of patient organisations, healthcare professionals, and independent scientific experts to express their interest. Applications will be assessed by the European Commission. The deadline for applications is 1 December 2011.
For further information and to apply

New database of European experts available from the EMA provides information on declarations of interest
The European Medicines Agency (EMA) has created a database of European experts that furnishes information on declarations of interest. The database, publicly available, coincides with the entry into force of new rules around conflicts of interests of scientific experts nominated by competent authorities for medicines regulation across the European Union and involved in the Agency’s activities. In a press release, the database is described as “…a major building block of the Agency’s new rules on the handling of conflicts of interests of its scientific experts, which aim at protecting the Agency’s scientific opinion-making processes from the influence of any improper interests” . Conflicts of interests are classified into three categories: “direct”, “indirect” and “no interests” and experts provide a signed declaration of interests form detailing any direct or indirect financial or other interests that could affect their impartiality.
View the database

EMA’s Committee for Orphan Medicinal Products announces initiative to publish prevalence information
The July 2011 Committee Report of the European Medicine Agency’s Committee for Orphan Medicinal Products includes the news that the COMP agrees to support an initiative to publish the prevalence data and data sources for the conditions for which products receive orphan designation. The measure is another action in an overall campaign designed to heighten transparency. Ascertaining prevalence can be extremely difficult, particularly for rare disorders. It is hoped that the initiative will aid future applications.

National & International Policy Developments
Newborn screening at Italy’s Santa Croce di Fano hospital to increase from three to 50 rare disorders
In Italy’s Marches region, the Santa Croce di Fano hospital plans to drastically increase its newborn screening progamme to encompass some 50 rare metabolic diseases using tandem mass spectrometry. The increased programme is expected to get under way by the middle of next year. Some – though not all - of the disorders included in the expanded screening can be treated or limited if recognised in time. Presently, the Santa Croce di Fano hospital performs routine screening for only three disorders: phenylketonuria, congenital hypothyroidism and cystic fibrosis, conditions improved by early intervention. Some 14 thousand newborns are screened annually at the hospital.
Learn more (in Italian)

Other European news
UK Sjogren syndrome registry provides lessons for rare disease registry design
An article appearing in the journal Rheumatology earlier this year offers insight into registry design for rare diseases. The United Kingdom Primary Sjogren’s Syndrome Registry (UKPSSR) intends to gather “a cohort of 500 clinically well-characterized patients with pSS [primary Sjogren Syndrome] fulfilling the American European Consensus Group (AECG) consensus criteria”. Recruitment began in 2009 and is expected to be completed by March 2012. Potential weaknesses identified include ensuring quality standards across recruiting centres, a lack of certain specific sample collecting that could skew patient representation, and the recruitment sites (secondary care rheumatology units) that could also produce bias. Patient consent was also mentioned as a factor that could produce potential bias along with the limitation of country (UK patients only). The authors also identified challenges (such as meeting target cohort number) and future developments of the registry. The experiences described in this article could be helpful to registry design elsewhere for pSS or for rare diseases.
Consult the PubMed abstract

First UK tissue bank specifically for brain tumours launches in Scotland
The United Kingdom’s first brain tumour tissue bank, housed in Southern General Hospital in Glasgow, Scotland, will provide a large number of samples to researchers, with the goal of accelerating research toward treating this group of rare diseases. In a press release, University of Glasgow Chair of Clinical Oncology Prof Anthony Chalmers observed that “Everyone’s brain tumour is different, and the tissue bank is an important step on the way to understanding the challenges and possibilities of personalised medicine to treat individual cancers”. The new tissue bank, available to researchers from academia and industry, was made possible by funding from brain cancer charity brainstrust, as well as the efforts of volunteer Anita Smith, whose own daughter Charlotte died in 2008 at age 16 from an aggressive brain tumour. The new tissue repository is named Charlotte’s Bank of Hope.
Learn more

Other International News
Egypt boasts world’s largest newborn screening laboratory
According to several news reports, Egypt has created the world’s largest newborn screening laboratory, developed via a collaboration between the Egyptian Health Ministry and PerkinElmer. Newborn screening for congenital hypothyroidism is to be administered free of charge in Egypt. It is anticipated that some 96 percent of babies born in the country will be screened for the rare thyroid hormone deficiency.
New computerised family history tool helps health professionals to improve prenatal screening process for inherited conditions
In the USA, the March of Dimes, the National Coalition for Health Professional Education in Genetics, Genetic Alliance, and Massachusetts General Hospital have joined forces to test a computerised tool that records family history data, in a bid to improve screening for inherited conditions as well as preterm birth and miscarriage. The new electronic tool is designed to help health professionals assess risks during pregnancy by examining both personal and family health history. While enquiring into family health background is nothing new, the tool brings to the procedure an electronic examination of recorded data that provides “…red flags and recommendations for health care providers based on current professional guidelines. On the basis of this information, health care providers may be prompted to ask the patient more questions, or refer her to a genetic specialist”. The new tool builds upon the freely-available Hughes riskApps™ platform developed for hereditary cancer risk.

Ethical, Legal & Social Issues
Parents of children with disorders of sexual development seek a sense of harmony
A new paper presents a narrative study exploring the experience of parents whose children were born with disorders of sexual development, particularly genital ambiguity, and looks at the decision-making in relation to reconstructive surgeries. The authors evoke a need for “harmony” on the part of parents – described as a “central organizing concept” for parents frequently traumatised by the birth of a child with genital ambiguity. According to the authors, the parents “…work towards a sense of harmony in order to accommodate their experiences, revisit their belief systems and meet ongoing challenges”. The authors also show that, although early reconstructive genital surgery is often criticised, some parents report that it can “…allow them to be better placed to parent, protect and bond with their child born with ambiguous genitalia”. The authors suggest that resources are needed to better support both parents and children affected by disorders of sexual development. The paper also revealed that the language and/or attitudes of the healthcare professionals can either positively or negatively impact the experience for parents – either contributing to or detracting from a sense of harmony.
Consult the PudMed abstract


Orphanet News
New Texts
New Orphanet Journal of Rare Diseases publications

Atypical hemolytic uremic syndrome
Congenital Hyperinsulinism: Current Trends in Diagnosis and Therapy


New Syndromes

Autosomal-dominant adermatoglyphia caused by a mutation in a skin-specific isoform of SMARCAD1
The authors describe a female patient with missing epidermal ridges on the fingers, palms, toes, and soles. This congenital adermatoglyphia (absence of fingerprints) was inherited over 4 generations of her family in an autosomal dominant fashion. The only feature associated is a reduced number of sweat glands and a reduced ability for hand transpiration. The authors showed that the condition is due to a mutation in the skin-specific SMARCAD1 short isoform.
Read the PubMed abstract

J Am Acad Dermatol ; 974-980 ; May 2011
Am J Hum Genet ; 302-307 ; 12 August 2011

Pyoderma gangrenosum, acne, and suppurative hidradenitis: a new autoinflammatory syndrome
The authors present two unrelated patients with pyoderma gangrenosum, acute or remittent acne conglobata, and suppurative hidradenitis. In contrast to PAPA syndrome patients, they lacked any episodes of pyogenic arthritis. No gene mutation was identified. One patient was treated with the interleukin (IL)-1 receptor antagonist anakinra and responded well, although without complete remission. The authors propose the acronym "PASH" syndrome for this disease, which may respond to IL-1ß blockade.
Read the PubMed abstract

J Am Acad Dermatol ; Epub ahead of print ; 9 July 2011
X-linked intellectual deficit with alacrima and achalasia
The authors describe a consanguineous Israeli Arab kindred with five males in two interrelated families with intellectual disabilities, alacrima, achalasia, and mild autonomic dysfunction. Adrenal function is normal. Genotyping of affected family members identified a 16.4 Mb continuous segment of identical alleles shared by the patients between markers rs2748314 and rs5906782 on Xp11.23-p21, establishing linkage to chromosome X.
Read the PubMed abstract

Am J Med Genet ; 1959-1963 ; August 2011
A nonsyndromic severe myopia with variable expressivity of cataract and vitreoretinal degeneration linked to a LEPREL1 mutation
Autosomal-recessive high-grade axial myopia was diagnosed by the authors in Bedouin Israeli consanguineous kindred. In addition to myopia, many affected individuals developed early-onset cataracts and peripheral vitreoretinal degeneration, and some had secondary sight loss due to severe retinal detachments. The authors identified a single mutation (c.1523G>T) in the gene LEPREL1, encoding prolyl 3-hydroxylase 2 (P3H2), a 2-oxoglutarate-dependent dioxygenase that hydroxylates collagens.
Read the PubMed abstract

Am J Hum Genet ; 438-445 ; 9 September 2011
A new mitochondria-related disease showing myopathy with episodic hyper-creatine kinase-aemia
The authors studied nine patients with mtDNA np8291 alteration who had mild muscle weakness and episodic hyper-creatine kinase (CK)-aemia triggered by infections or drugs. Five of these patients had initially been diagnosed with other conditions, such as myasthenia gravis, polymyositis, viral myositis, and drug-induced myopathy, because these conditions were acute or subacute. Muscle biopsy revealed ragged-red fibers, highly expressed succinate dehydrogenase staining fibers, and cytochrome C oxidase-deficient fibers. The nine patients showed the same 16 mtDNA alterations – which have been reported to be nonpathological polymorphisms. The authors propose that this disease be named as “mitochondrial myopathy with episodic hyper-CK-aemia (MIMECK)”.
Read the PubMed abstract

Ann Neurol ; 486-492 ; September 2011

New Genes

Hypomyelinating leukodystrophies: POLR3A, encoding a catalytic subunit of RNA polymerase Pol III, is mutated in recessive forms
Read the PubMed abstract
To read more about "Odontoleukodystrophy"
To read more about "Hypomyelination - hypogonadotropic hypogonadism - hypodontia"

Am J Hum Genet ; 415-423 ; 9 September 2011
Familial Parkinson disease: EIF4G1 mutations cause familial autosomal dominant form
Read the PubMed abstract
Am J Hum Genet ; 398-406 ; 9 September 2011
Autosomal recessive nonsyndromic intellectual deficit: ST3GAL3 as new causal gene
Read the PubMed abstract
To read more about "Autosomal recessive nonsyndromic intellectual deficit"

Am J Hum Genet ; 407-414 ; 9 September 2011
Familial biparental hydatidiform mole: implication of c6orf221
Read the PubMed abstract
To read more about "Hydatidiform mole"

Am J Hum Genet ; 451-458 ; 9 September 2011
Congenital cataract, corneal opacity, and developmental glaucoma: homozygous mutations in PXDN responsible
Read the PubMed abstract
To read more about "Congenital glaucoma"
To read more about "Cataract-microcornea syndrome"

Am J Hum Genet ; 464-473 ; 9 September 2011
Narcolepsy with cataplexy: a missense mutation in myelin oligodendrocyte glycoprotein (MOG) found in a large family
Read the PubMed abstract
To read more about "Narcolepsy-cataplexy"

Am J Hum Genet ; 474-479 ; 9 September 2011
Combined malonic and methylmalonic aciduria: ACSF3, encoding a putative methylmalonyl-CoA and malonyl-CoA synthetase, at cause
Read the PubMed abstract
J Med Genet ; 602-605 ; September 2011
Nat Genet ; 883-886 ; September 2011
Familial isolated arrhythmogenic right ventricular cardiomyopathy: titin variations responsible in some families
Read the PubMed abstract
To read more about "Familial isolated arrhythmogenic right ventricular dysplasia"

Circulation ; 876-885 ; 23 August 2011
Noonan-like syndrome: disruption of MYST4 causes short stature, blepharoptosis, and attention deficit hyperactivity disorder
Read the PubMed abstract
To read more about "Noonan syndrome and Noonan-related syndrome"

J Clin Invest ; 3479-3491 ; 1 September 2011
Oligodendroglioma: somatic mutations in CIC and FUBP1 suggest a critical role for these genes
Read the PubMed abstract
To read more about "Oligodendroglioma"

Science ; 1453-1455 ; 9 September 2011
Meningioma: common variation at 10p12.31 near MLLT10 influences disease risk
Read the PubMed abstract
To read more about "Meningioma"

Nat Genet ; 825-827 ; September 2011
Hepatocellular carcinoma: somatic inactivating mutations in ARID2
Read the PubMed abstract
To read more about "Hepatocellular carcinoma"

Nat Genet ; 828-829 ; September 2011

Research in Action

Fundamental Research
Cystic fibrosis: rescue of ΔF508-CFTR trafficking via a GRASP-dependent unconventional secretion pathway
Read the PubMed abstract
To read more about "Cystic fibrosis"

Cell ; 746-760 ; 2 September 2011
X-linked adrenoleukodystrophy: patient-derived iPSCs recapitulate the key events of disease development
Read the PubMed abstract
To read more about "X-linked adrenoleukodystrophy"

Ann Neurol ; 402-409 ; September 2011
Delta-beta thalassaemia and HPFH: identification of a functional element necessary for fetal haemoglobin silencing
Read the PubMed abstract
To read more about "Delta-beta thalassemia"
To read more about "Hereditary persistence of fetal hemoglobin - beta-thalassemia"

N Engl J Med ; 807-814 ; 1 September 2011
Amyotrophic lateral sclerosis: astrocytes from familial and sporadic patients are toxic to motor neurons
Read the PubMed abstract
To read more about "Amyotrophic lateral sclerosis"

Nat Biotechnol ; 824-828 ; September 2011
Centronuclear myopathy: mice lacking microRNA 133a develop dynamin 2–dependent disease
Read the PubMed abstract
To read more about "Centronuclear myopathy"

J Clin Invest ; 3258-3268 ; August 2011
Pure autonomic failure: decreased vesicular uptake appears to underly the accelerated loss of intra-neuronal catecholamines
Read the PubMed abstract
To read more about "Pure autonomic failure"

J Clin Invest ; 3320-3330 ; August 2011
Clinical Research
X-linked adrenoleukodystrophy: efficacy of allogeneic haematopoietic cell transplantation for childhood cerebral disease
Read the PubMed abstract
To read more about "X-linked adrenoleukodystrophy"

Blood ; 1971-1978 ; 18 August 2011
Wiskott-Aldrich syndrome: long-term outcome in 194 patients treated by haematopoietic cell transplantation
Read the PubMed abstract
To read more about "Wiskott-Aldrich syndrome"

Blood ; 1675-1684 ; 11 August 2011
Acquired aplastic anaemia: confirmation of benefit of alemtuzumab-based regimen for allogeneic stem cell transplantation
Read the PubMed abstract
To read more about ""

Blood ; 2351-2357 ; 25 August 2011
Acquired thrombotic thrombocytopenic purpura: safety and efficacy of rituximab with plasma exchange in acute disease
Read the PubMed abstract
To read more about "Thrombotic thrombocytopenic purpura"

Blood ; 1746-1753 ; 18 August 2011
Myelofibrosis: everolimus as single agent appears safe and effective in a phase 1/2 study
Read the PubMed abstract
To read more about "Myelofibrosis with myeloid metaplasia"
To read more about "Polycythemia vera"
To read more about "Essential thrombocythemia"

Blood ; 2069-2076 ; 25 August 2011
Friedreich ataxia: idebenone may offer neurological benefit in paediatric patients
Read the PubMed abstract
To read more about "Friedreich ataxia"

J Neurol ; Epub ahead of print ; 22 July 2011
Gliomatosis cerebri: procarbazine and lomustine chemotherapy as a promising option for primary treatment
Read the PubMed abstract
To read more about "Gliomatosis cerebri"

Ann Neurol ; 445-453 ; September 2011
Gene Therapy
X-linked severe combined immunodeficiency: long-term persistence of a polyclonal T cell repertoire after gene therapy
X-linked severe combined immunodeficiency (SCID-X1) is caused by mutations in the common cytokine receptor gamma chain. The authors report on long-term follow-up of 10 children with classical SCID-X1 treated by gene therapy. The patients’ CD34+ haematopoietic stem and progenitor cells had been transduced with a conventional gammaretroviral vector, without myelosuppression. All patients were alive after a median follow-up of 80 months (range, 54 to 107 months), and a functional polyclonal T cell repertoire was restored in all patients. Humoral immunity only partially recovered but was sufficient in some patients to allow for withdrawal of immunoglobulin replacement. One patient developed T cell acute lymphoblastic leukaemia as a result of vector-mediated insertional mutagenesis, but maintained a polyclonal T cell repertoire through chemotherapy and entered remission.
Read the PubMed abstract

To read more about "Severe combined immunodeficiency T- B+ due to gamma chain deficiency"

Sci Transl Med ; 97ra79 ; August 2011
ADA-deficient severe combined immunodeficiency: long-term immunological recovery and metabolic correction with gene therapy
Genetic defects in adenosine deaminase (ADA) lead to severe combined immunodeficiency. Enzyme replacement therapy (ERT) is available, but patients remain susceptible to infections. The authors treated six children with autologous CD34+ haematopoietic bone marrow stem and progenitor cells transduced with a conventional gammaretroviral vector encoding the human ADA gene. All patients stopped ERT and received mild chemotherapy before infusion of gene-modified cells. All patients survived, with a median follow-up of 43 months (range, 24 to 84 months). Four of the six patients recovered immune function as a result of engraftment of gene-corrected cells. In two patients, treatment failed because of disease-specific and technical reasons; both restarted ERT and remain well. Of the four reconstituted patients, three remained off enzyme replacement. Moreover, three of these four patients discontinued immunoglobulin replacement, and all showed effective metabolic detoxification. All patients remained free of infection, and two cleared problematic persistent cytomegalovirus infection. There were no adverse leukemic side effects.
Read the PubMed abstract

To read more about "Severe combined immunodeficiency"

Sci Transl Med ; 97ra80 ; 24 August 2011
Therapeutic Approaches
Spinal muscular atrophy: new experiments in mouse models confirm promises of SMN upregulation
Read the PubMed abstract
To read more about "Proximal spinal muscular atrophy"

J Clin Invest ; 3029-3041; 3042-3050 ; 1 August 2011
Duchenne muscular dystrophy: early treatment with lisinopril and spironolactone preserves cardiac and skeletal muscle in mice
Read the PubMed abstract
To read more about "Duchenne muscular dystrophy"

Circulation ; 582-588 ; 2 August 2011

Patient Management and Therapy

Sickle cell disease: quality-of-care indicators for children
An expert panel developed a set of quality-of-care indicators for the management of children with sickle cell disease (SCD). The panel recommends 41 indicators that cover 18 topics: 17 indicators described routine health care maintenance, 15 described acute or subacute care, and 9 described chronic care. The panel identified 8 indicators most likely to have a large positive effect on improving quality of life and/or health outcomes for children with SCD, which covered 6 topics: timely assessment and treatment of pain and fever; comprehensive planning; penicillin prophylaxis; transfusion; and the transition to adult care.
Read the PubMed abstract

To read more about "Sickle cell anemia"

Pediatrics ; 484-493 ; September 2011
Juvenile idiopathic arthritis: 2011 American College of Rheumatology (ACR) recommendations for treatment
For further details
To read more about "Juvenile idiopathic arthritis"

Arthritis Care Res ; 465-482 ; April 2011
Paediatric rheumatic diseases: European League Against Rheumatism (EULAR) recommendations for vaccination
Read the PubMed abstract
Ann Rheum Dis ; 1704-1712 ; October 2011
Chronic myeloid leukaemia: recommendations from an expert panel for BCR-ABL kinase domain mutation analysis
Read the PubMed abstract
To read more about "Chronic myeloid leukemia"

Blood ; 1208-1215 ; 4 August 2011

Orphan Drugs

Ethical guidelines to encourage fair distribution of resources for orphan drugs
Acknowledging the “weak claim” that rare diseases have for public resources, stemming from a lack of knowledge, pricing, and other factors, the authors of an interesting new article propose an ethical framework for the fair allocation of limited healthcare resources toward prevention, diagnosis and treatment of rare diseases. Citing the European Orphan Drug Regulation as a transforming agent for the “weak claim” of the individual rare disease into a “massive cumulative claim representing 5000-8000 diseases”, the authors suggest an ethical framework consisting of three main principles: fair budgetary insulation; guaranteed access for some, based on rational priorities; and possible access for all, based on random selection. Evoking the “ethical conflict between the utilitarian principle ‘to do the greatest good for the greatest number’ and the principle of non-abandonment” the authors assert that the macro-level decision-making model that they present is designed to aid health policy makers fairly allocate resources for the prevention, diagnosis and treatment of rare diseases.
Consult the PubMed abstract

CHMP recommends marketing authorisation for several orphan products in July
In July, the Committee for Medicinal Products for Human Use (CHMP) adopted positive opinions recommending the granting of marketing authorisation for Plenadren (hydrocortisone), an orphan medicine from DuoCort Pharma AB, intended for the treatment of adrenal insufficiency in adults, and for Vyndaqel (tafamidis), from Pfizer Specialty UK Ltd, an orphan medicine intended for the treatment of transthyretin amyloidosis in adult patients with symptomatic polyneuropathy, a severe, progressive orphan disease. Vyndaqel is the first oral pharmacological treatment recommended for this rare disease. The CHMP recommended granting a marketing authorisation under exceptional circumstances since, due to the rarity of the disease, the applicant was not able to provide comprehensive evidence on the efficacy and safety of this medicine. The CHMP also adopted a positive opinion for Mercaptopurine Nova Laboratories (mercaptopurine monohydrate), an orphan medicine from Nova Laboratories Ltd, intended for the treatment of acute lymphoblastic leukaemia in adults, adolescents and children. The medicine has been formulated as a suspension, which provides better accuracy and ease of administration especially when used in small children. Development of an age-appropriate formulation to treat this disease was identified as a priority research area by the Agency’s Paediatric Committee. Also at the July meeting, the Committee adopted positive opinions for applications for extension of the therapeutic indication for Afinitor (everolimus), from Novartis Europharm Ltd, to include treatment of patients with unresectable or metastatic, well- or moderately differentiated neuroendocrine tumours of pancreatic origin in adults with progressive disease and Enbrel (etanercept), from Wyeth Europa Ltd, to extend the lower age range in polyarticular juvenile idiopathic arthritis (JIA) from four to two years; and to extend the lower age range in paediatric plaque psoriasis from eight to six years.

FDA grants accelerated approval for atypical hemolytic uremic syndrome treatment
Last month, the USA's Food and Drug Administration (FDA) granted accelerated approval for the use of eculizumab (Soliris) from Alexion, Inc. for the treatment of paediatric and adult patients with atypical hemolytic uremic syndrome. Eculizumab has an orphan designation in Europe for the treatment of paroxysmal nocturnal hemoglobinuria.


Courses & Educational Initiatives

4th International Postgraduate Course on Lysosomal Storage Disorders: Diagnostic Background and Clinical Therapy
The University of Rostock is organising the 4th International Postgraduate Course on Lysosomal storage disorders: diagnostic background and clinical therapy to take place in Berlin, Germany from 14-15 November 2011. Scientific excellence in talks will be connected with presentations and discussion of real clinical cases embedded into a communicative and inspiring atmosphere.
For further details

Nursing of Patients with Epidermolysis Bullosa - International Theoretical‐Practical Course
This course, being held on 16 November 2011 in Rome, Italy, is held in the context of a European project focused on the management of genodermatoses, "Together Against Genodermatoses" and will seek to define the best available strategy for the nursing care of the patients. This course, offered in English and Italian languages, will focus on the daily nursing management of the lesions in EB patients at different ages. In addition it will give the opportunity to acquire skills during the surgical procedures in order to prevent the onset of new lesions.
For further details

ESH-ENERCA Training Course: Diagnosis and Management of Very Rare Anaemias
This two-day ENERCA-ESH training course on rare red blood cell disorders will be held in Paris, France on 3-4 February 2012. The course aims at promoting harmonisation of procedures for clinical and biological diagnosis, as well as management and follow-up of patients with very rare red cell disorders, including red blood cell membrane disorders and enzymopathies, congenital dyserythropoietic anaemias, and other rare disorders of the red blood cell. The course should be of interest for biologists, haematologists, paediatricians and trainees in haematology.
For further details

European Cytogeneticists Association Course
The European Advanced Postgraduate Course in Classical and Molecular Cytogenetics is designed to provide advanced training in constitutional, haematological, and oncological cytogenetics to medical graduates, pharmacists, pathologists, biologists, health professionals and researchers, with an academic qualification. Information for the 2012 course (scheduled from 20-28 February) is now available.
For further details

Tenth European Course on the Evaluation of Medicinal Products in Children
Organized with the European Society for Developmental, Perinatal & Paediatric Pharmacology, and the University Rene Descartes Paris V, and taking place from 21-24 February and 27-30 March 2012, modules for this seminar include: Specific aspects of paediatric pharmacology; Issues relating to trials and drug use in children; Drug development and post-marketing surveillance; Pre/peri-natal drug evaluation and use; Paediatric Investigation Plan design; and more.
For further details

Goldrain Courses in Clinical Cytogenetics and Prenatal Genetic Diagnosis
The Goldrain Prenatal Genetic Diagnosis course, tentatively scheduled from 6-12 October 2012 at the Goldrain Castle in South Tyrol (Italy), is aimed at both obstetricians and clinical and laboratory geneticists who have strong mutual interests in each other’s field. In order to have the maximum profit from the lectures and exercises, participants should have at least one year of practical experience in prenatal obstetric diagnosis and/or clinical genetics. Besides the lectures, there is room for discussions, student presentations, and at the end a non-compulsory multiple-choice examination. The 2012 Clinical Cytogenetics course has not yet been announced.
For further details

Master of Science in Haemoglobinopathy
A unique opportunity for health professionals to specialise in the field of haemoglobinopathies online with minimum disruption to professional and personal lives. The course has been designed to meet the needs of a wide range of medical professionals, including medical graduates interested in haemoglobinopathy (general physicians, specialists such as paediatricians, haematologists, clinical geneticists, obstetricians/gynaecologists, behavioural scientists); science graduates interested in medical research related to haemoglobinopathy and genetics; and other healthcare professionals interested in haemoglobinopathy – such as counsellors, clinical psychologists, nurse specialists and midwives.
For further details

Orphan Academy 2011 Programme
The Orphan Europe Academy provides healthcare professionals with the opportunity to increase knowledge, develop new ideas and strengthen scientific collaboration by offering training and educational activities for healthcare professionals involved in the diagnosis and management of patients affected by rare diseases.
For further details

EuroGentest Quality Management and Accreditation/Certification of Genetic Testing Workshops
The European network of excellence for all aspects of genetic testing, EuroGentest, under its Quality Management and Accreditation/Certification of Genetic testing Workgroup, has several training workshops available around Europe in coming months that focus on accreditation and quality assurance.
For further details


What's on Where?

2nd South Caucasian Conference on Rare Diseases and Orphan Drugs
Date: 27-28 October 2011
Venue: Tbilisi, Georgia

With this year’s theme: Children and Rare Diseases: From Isolation to Integration, the conference will continue the tradition of the previous South Caucasian Conference - providing the most updated information in the field of rare diseases, and giving participants an opportunity of meeting experts from all over the world.
For further details

Rare 2011: The Eurobiomed Meetings on Rare Diseases
Date: 2-4 November 2011
Venue: Montpelier, France

This French-language event features an English-language “European Day” co-hosted by Eurobiomed and the European Union Committee of Experts on Rare Diseases (EUCERD) that will explore shared data to improve healthcare management for rare diseases.
For further details

Treat-NMD Global Conference
Date: 8-11 November 2011
Venue: Geneva, Switzerland

The conference will comprise a range of sessions addressing the challenges in the neuromuscular field, including: Delivery of future therapies; Biomarkers; Care considerations; Neuromuscular diseases and society; and Regulatory issues, orphan drugs and the rare disease field.
For further details

Cell Symposia: Autism Spectrum Disorders: From Mechanisms to Therapies
Date: 9-11 November 2011
Venue: Virginia, USA

The aim of this meeting is to bring together key researchers working on autism spectrum disorders at multiple levels, with a specific goal of considering how current basic research findings and candidate mechanisms can be directed towards therapies and treatments.
For further details

European Wilson Disease Congress
Date: 14-15 November 2011
Venue: Paris, France

On the agenda are topics addressing developments in treatment, patient management, and differences in access to care across Europe.
For further details

Canadian Congenital Anomalies Surveillance Network (CCASN) – 9th Annual Scientific Meeting
Date: 16-18 November 2011
Venue: Ottawa, Canada

This event will allow participants to review epidemiological studies on the natural history, diagnosis and treatment of musculoskeletal congenital anomalies, particularly limb deficiencies; highlight maternal and environmental risk factors associated with susceptibility to musculoskeletal congenital anomalies; share up-to-date information on the embryology, molecular mechanisms and classification of musculoskeletal congenital anomalies, as well as key messages on the impact of living with a limb deficiency; and raise awareness of the importance of integrating congenital anomalies surveillance and research into current public health initiatives. .
For further details

2nd World Orphan Drug Summit
Date: 15-17 November 2011
Venue: Boston, Mass USA

This commercial event will bring together industry leaders from pharma/biotech companies, patient advocacy groups, regulators, investors and insurance companies to shares approaches, challenges and successes in orphan drug development.
For further details

5th International Workshop on AKU (Alkaptonuria)
Date: 18-19 November 2011
Venue: Liverpool, UK

Topics will include: Building clinical trials for AKU using a disease severity score index; Nitisinone, from weed killer to wonder drug; Metabolomic investigation in AKU and OA; Enzyme replacement therapy for AKU; Gene therapy for AKU; Novel biomarkers of cartilage and bone for AKU; and more.
For further details

4th European Symposium on Rare Anaemias
Date: 19-20 November 2011
Venue: Sofia, Bulgaria

Topics include the Epidemiology and prevention of haemoglobinopathies; European policies contributing to health reforms; Thalassaemia major: multi-disciplinary care; Endocrine and bone disease in thalassaemia syndromes; Iron chelation in myelodysplastic syndromes; Clinical management of sickle-cell anaemia in children; Developing new therapies for thalassaemia and HbS disease; and much more.
For further details

Sixth European Workshop on Immune-Mediated Inflammatory Diseases
Date: 23-25 November 2011
Venue: Nice, France

The programme for this event includes “Lessons from monogenic diseases” including Omenn syndrome; L-1 blockade in inherited fever syndromes; immune-mediated muscle wasting and more.
For further details

6th Eastern European Conference for Rare Diseases and Orphan Drugs
Date: 24-26 November 2011
Venue: Istanbul, Turkey

The general objective of the conference Eastern European Conference for Rare Diseases and Orphan Drugs is to discuss the development of policy on Rare Diseases and Orphan Drugs in Eastern European countries in comparison with the EU policy. The following plenary sessions and parallel workshops topics include: European Union Policy for Rare Diseases, Eastern European Countries Policies for Rare Diseases, Best Practices on Rare Diseases, Networks & Centers of Reference for Rare Diseases, Challenges in Diagnosis, Challenges in Treatment, Role of Industry for Orphan Drugs Development and Access to Orphan Drugs, Awareness of Medical Professionals and Health Authorities, Challenges to Patients and Families, Empowerment of Patients, Organising Patients and Families, and Awareness of Patients and the Society.
For further details

Sanfilippo Foundation Switzerland International Congress
Date: 8-10 December 2011
Venue: Geneva, Switzerland

“Research toward a treatment” is the theme of this conference focusing on innovative research to treat mucopolysaccharidosis.
For further details

International Congress on Research of Rare and Orphan Diseases
Date: 29 February - 2 March 2012
Venue: Basel, Switzerland

The Swiss-based Blackswan Foundation and Gebert Rüf Stiftung Foundation, both active in supporting research activities in Rare Diseases, are preparing an international congress of which the main topics will include Gene and cell therapy; Stem cells; Diagnostics; Therapeutic applications; and Genomic disorders. The congress will be open to scientific researchers, specialized scholars, professionals and officials.
For further details

Second ASID Congress of the African Society for Immunodeficiencies
Date: 8-11 March 2012
Venue: Hammamet, Tunisia

This second congress – postponed from its original 2011 date - will be an excellent opportunity to strengthen the capacity of colleagues all over the continent to better diagnose and manage patients with PIDs. The commitment and contribution of international experts, societies and associations to this process is highly appreciated.
For further details

13th International Conference on Neuronal Ceroid Lipofuscinosis and 1st Worldwide Meeting of Batten Disease Int'l Alliance
Date: 28-31 March 2012
Venue: London, England

This is the only forum that brings together those with interests in basic science and clinical care for this group of devastating diseases. A new dimension is added this year by bringing together the newly formed Batten Disease International Alliance (BDIA) for its first worldwide meeting. Deadline for abstract submission: 30 November 2011.
For further details

Fourth International Meeting on Primary Central Hypoventilation Syndromes
Date: 13-14 April 2012
Venue: Warsaw, Poland

The fourth international CHS meeting will be organized by the European CHS Consortium and will address physicians, researchers, families and all persons involved or interested in Central Hypoventilation Diseases.
For further details

First International Symposium on the Ehlers-Danlos Syndrome
Date: 8-11 September 2012
Venue: Ghent, Belgium

Topics include natural history; clinical aspects; updated nosology; diagnostics guidelines; therapeutic and management strategies; animal models, and more.
For further details

3rd Pan-European Conference on Haemglobinopathies and Rare Anaemias: Towards the Future
Date: 25–26 October 2012
Venue:Limassol, Cyprus

The Thalassaemia International Federation is delighted to announce the organisation of the 3rd Pan-European Conference, held under the auspices of the Cyprus Presidency and in close collaboration with the Cyprus Ministry of Health. The conference will bring together stakeholders to discuss avenues of action to tackle the growing public health burden of chronic and rare diseases in Member States and the EU.
For further details


Press & Publications

Close encounters of the rare kind: authors offer physicians advice on diagnosing and managing rare diseases
An article appearing in the European Journal of Internal Medicine and stemming from the personal experience of the authors, encourages physicians to be vigilant for rare diagnostic entities - the ‘zebra’ occasionally found amongst the herd of common diseases. Using three brief case studies to illustrate their point, the authors offer a laundry list of techniques designed both to help reach a correct diagnosis and offer appropriate management.
Consult the PubMed abstract


Orphanews Europe, the newsletter of the European Union Committee of Experts on Rare Diseases
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, Kate Bushby, Catherine Berens, Helena Kaariainen, Yann Le Cam, Jordi Llinares-Garcia, Antoni Montserrat, Catherine Pouzat, Charlotte Rodwell, Christophe Roeland

EUCERD Country Representatives: Helmut Hintner (Austria), Pol Gerits (Belgium), Radka Tincheva (Bulgaria), Ivo Baric (Croatia), Violetta Anastasiadou (Cyprus), Milan Macek Jr. (Czech Republic), Marianne Jespersen (Denmark), Inna Vabamae (Estonia), Helena Kaariainen (Finland), Alain Garcia (France), Birgit Schnieders (Germany), Christos Katamis (Greece), Janos Sandor (Hungary), Sveinn Magnusson (Iceland), John Devlin (Ireland), Bruno Dallapiccola (Italy), Antra Valdmane (Latvia), Jonas Bartlingas (Lithuania), Yolande Wagener (Luxembourg), Maria-Louise Borg (Malta), Harry Seeverens (Netherlands), Stein Are Aksnes (Norway), Jakub Adamski (Poland), Luis Nunes (Portugal), Ana Maria Vladareanu (Romania), Borut Peterlin (Slovenia), Frantisek Cisareik (Slovak Republic), Isabel Pena-Rey (Spain), Michael Soop (Sweden), Sabina Gallati (Switzerland), Edmund Jessop (UK)
EUCERD ECDC Representative: Andrew Amato
EUCERD Patient Organisation Representatives: Dorica Dan, Torben Gronnebaek, Yann Le Cam, Christel Nourissier
EUCERD Pharmaceutical Industry Representatives: Wills Hughes-Wilson, Kevin William Loth, Samantha Parker, Barbara Valenta
EUCERD Rare Disease Projects under Health Programmes Representatives: Ségolène Aymé, Jean Donadieu, Dian Donnai, Laura Fregonese, Ester Garne, Domenica Taruscio, Joan Luis Vives Corrons, Thomas Wagner, Susan Webb
EUCERD Rare Diseases Research Projects under Framework Programmes for Research and Technological Development Representatives: Jean-Yves Blay, Kate Bushby, Marc de Baets, Olaf Hiort, Sophie Koutouzov, Gerard Wagemaker
EUCERD European Commission Participants: Catherine Berens, Jordi Llinares-Garcia (EMA), Georgios Margetidis, Antoni Montserrat Moliner, Christophe Roeland, Stefan Schreck, Kerstin Westermark (EMA-COMP)
Orphanet Partner Country Representatives: Tamara F. Sarkisian (Armenia), Yvonne Zurynski (Australia), Till Voigtlander (Austria), Herwig Jansen (Belgium), Rumen Stefanov (Bulgaria), Ana Stavljenic-Rukavina (Croatia), Violetta Anastasiadou (Cyprus), Milan Macek (Czech Republic), John Rosendahl Ostergaard (Denmark), Vallo Tillmann (Estonia), Riitta Salonen (Finland), Manfred Stuhrmann-Spangenberg (Germany), Michael Petersen (Greece), Sandor Janos (Hungary), Andrew Green (Ireland) Lina Basel (Israel), Bruno Dallapiccola (Italy), Tomoko Kodama (Japan), Jana Lepiksone (Latvia), André Mégarbane (Lebanon), Viadutis Kucinskas (Lithuania), Yolande Wagener (Luxembourg), Abdelaziz Sefiani (Morocco), Gert-Jan van Ommen (Netherlands), Stein Are Aksnes (Norway), Malgorzata Krajewska-Walasek (Poland), Jorge Sequieros (Portugal), Cristina Rusu (Romania), Dragica Radojkovic (Serbia), Laszlo Kovacs (Slovakia), Borut Peterlin (Slovenia), Francesc Palau (Spain), Desirée Gavhed (Sweden), Loredana D'Amato Sizonenko (Switzerland), Ugur Ozbek (Turkey), Dian Donnai (UK)
For more information on the European Union Committee of Experts on Rare Diseases
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