30 April 2008 print
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OECD launches public consultation on human biobank and genetic research database guidelines
Current uses of Human Biobanks and Genetic Research Databases (HBGRDs) are already contributing significantly to the understanding of genetic and environmental factors that influence disease risk and treatment - including rare diseases. Many different types of HBGRDs are being established, such as cross-sectional, longitudinal, large-scale, disease-specific, or population-based. Such resources can provide platforms for international collaboration on a scale not previously attained. Yet establishing such HBGRDs also presents numerous challenges and issues that could benefit from common guidelines. The Organisation for Economic Cooperation and Development thus invites public comments on the draft Guidelines for Human Biobanks and Genetic Research Databases. This valuable document makes recommendations for principles and best practices in the areas of the establishment, maintenance and content of HBGRDs, as well as the protection of human biological materials and data; access; qualification, education and training; custodianship, benefit-sharing and intellectual property; and the demise of the HBGRD and disposal of materials and data. This draft has been released to elicit public comment, and the invitation to respond is open to all interested parties on all aspects of the text, with input particularly welcome from public and private sector entities involved in the establishment, governance, management and use of human biobanks, genetic research databases, and collections; patient groups; researchers; and from experts involved in ethical, social, legal and financial fields. The deadline for submitting comments is 16 May 2008.
View the draft guidelines


Spotlight on...
Accessing Mestinon in Romania
Patients with myasthenia gravis, a rare, autoimmune neuromuscular junction disorder presenting with painless, fluctuating, fatigable weakness involving specific muscle groups as well as ocular weakness with asymmetric ptosis and binocular diplopia, are typically treated with a variety of medications, of which Mestinon (pyridostigmine bromide) has been used as a first line of therapy for many years. This relatively inexpensive treatment, which predates the orphan drug regulations of both the USA and Europe, prevents the breakdown of neurotransmitter acetylcholine by allowing it to accumulate. With more acetylcholine, patients have more control of voluntary functions such as eye movements, limited strength, swallowing and breathing.

Mestinon is certainly not new (it originally received approval in the USA in 1955) and is considered inexpensive – especially in comparison to many other products for rare diseases. Yet in Romania the estimated 2000 myasthenia gravis patients have periodically had trouble obtaining Mestinon over the years. The most recent episode lasted over two months. It was the second such crisis in which the medication was unavailable to patients in the last two years; a similar episode in 2007 lasted some seven months. OrphaNews Europe examines the complex factors that contribute to the frequent unavailability of Mestinon in Romania.

Although Mestinon is used as a treatment for a rare disease, it is not protected by an “orphan medicinal product” designation that would allow special jurisdiction in some areas, including the opportunity to be imported by a government agency in Romania. Mestinon received marketing authorisation many years before European orphan drug regulation was adopted in 1999, and thus predates orphan status. In Romania, this means that importation of the drug is negotiated privately. One importer is presently responsible for negotiating prices for Mestinon. According to patient groups, in countries such as Romania importation is occasionally ceased for products in an effort to force prices up. The trouble occurs when there is just one treatment being imported for an illness, as is the present case with Mestinon, and just one importer responsible for furnishing the product. Fluctuations between the Euro and the Romanian new leu currencies mean that price negotiations for Mestinon must be renewed every trimester. Patient group the Romanian Myasthenia Gravis Association has tried to get other importers to also take on Mestinon, but they have been met with a lack of interest due to the inherent unprofitability of importing an inexpensive medication for a small number of patients. The association has filed a complaint with both the Romanian councils of competition and of discrimination, but the situation remains unresolved to date.

The cost of Mestinon is on average the equivalent of 25-30 euros per month, although some patients need a dosage costing up to 90 euros per month. This amount is significant in a country where the average monthly salary is under 400 euros and often much lower in rural areas. When it is available, Mestinon is fully reimbursed by the government for myasthenia gravis; however, price becomes an issue when patients are required to go abroad to purchase the product, as has been the case in past months and in previous crises.

During this latest crisis, patients were informed that the unavailability of Mestinon was caused by a halt in production due to the installation of a new software system. Under Romanian law (95/2006 art 729-2), halts in production of a medicinal product must be announced to pharmacies, hospitals, and patients at least two months prior to the cessation of product availability. The Romanian Myasthenia Gravis Association claims that they were not informed of the production delays. Enquires made by OrphaNews Europe to both the importer and the manufacturer’s production department were not answered at the time of publication.

An ongoing saga

In Romania, obtaining Mestinon has often been a problem – both before and after January 2007 when Romania became a member of the European Union. Early on, Mestinon was produced and imported from Switzerland by Hoffmann La Roche. Then, in the 1990s, ICN Galenika Yugoslavia took over Mestinon. When this switchover occurred, Romanian patients were unable to obtain Mestinon for about a year. During the Serbian war, when the manufacturer moved from the former Yugoslavia, Mestinon was once again missing for several months in Romania.

The manufacturer eventually moved to Hungary but the importer for Romania was still located in the former Yugoslavian republic of Serbia, which still had a representative in Bucharest who was able to import Mestinon in small amounts. The majority of Romanian patients at this time bought their medication from Hungary, Germany or Spain. After 1 January 2007, when Romania became an EU member, all medicinal products needed a new authorisation according to EU standards. It took several months for the importer to obtain this authorisation. Mestinon was absent from the pharmacies from November 2006 through May 2007, at which time the Health Ministry imported a small amount of the medication at the request of the patient organisation. Finally, the authorisation was given to a unique importer, Valeant Polfa Rzeszow Poland, represented in Romania by a small Romanian firm, Fideliofarm Sibiu. However, the drug was not imported and was again unavailable from May through September 2007. From the beginning of 2008 it was once again unobtainable in Romania, this time due to production problems. Unfortunately patients and pharmacists were unaware of the pending delay, and so were unable to create a buffer stock of the product beforehand.

Myasthenia gravis patients in Romania have difficulties obtaining other medicinal products; in particular patients suffer from a lack of access to the immunoglobulins that are needed to stop major myasthenic crises. These products are not currently covered by insurance, but patients report that they cannot obtain them even if they are willing and able to pay. It has also been reported that imunnosupressive drugs are no longer available; methotrexate among them. Patients attribute the lack of access to the currency exchange rate, and the refusal or inability of the government to modify prices. The importers stop importation in order to avoid losing money.

Lessons learnt

The latest Mestinon crisis in Romania lasted two months and 20 days. Mestinon was once again available in Romania as of 21 March, though only in some pharmacies in Bucharest and another major city. The patient organisation has learnt from this episode and is now better prepared to confront the situation if and when it arises in the future. The patient association has created a stockpile with 200 bottles of 20 pills donated by the Hellenic Pasteur Institute of Athens, Greece, and another 60 bottles donated from the Association des Myastheniques Isoles et Solitaires in France and the Associazione Italiana Miastenia ONLUS. The Romanian Myasthenia Gravis Association was able to distribute emergency aid to patients in need, but hoped to be able to save a quantity of Mestinon as a buffer stock for further crises. The group is convinced that further crises will happen. Current law states that every three months the health ministry will renegotiate the drug price with the importers - following the fluctuating euro/Romanian leu exchange rate – and, according to the patient group, recent experience suggests that the importer will stop importation and sell the whole quantity of product before negotiations in order to avoid losing money. Thus the Romanian Myasthenia Gravis Association is intent on creating its own supplies. The group is also pressuring the government to apply a law that would have the state take over importation when an authorised product is not available for a significant period of time. In addition, the group is agitating to have Mestinon declared a “drug for special needs” in Romania. This would allow the government to import the product alongside the private-sector importer. Finally, the group is seeking alternative solutions, such as a second importer or a second medicinal product as a means to offset future crises. It is hoped that the national rare disease plan under construction in Romania will include provisions to ease access to Mestinon for rare disease patients. Recent actions on the part of the government demonstrate that Romania is a country working hard to improve conditions for its rare disease patients – including their medicinal needs.

EU Policy News
DG Enterprise
Paediatric clinical trials: a new draft guidance on improving transparency

Regulation (EC) No 1901/2006 on medicinal products for paediatric use requires the European Commission to create guidelines on the paediatric clinical trial information to be entered into EudraCT, the database for all clinical trials commencing in the European Community from 1 May 2004 onwards. This guidance also addresses the information to be made available to the public; how clinical trial results should be submitted and be made public, and the responsibilities and tasks of the European Medicines Agency (EMEA)in this regard. This draft guidance, launched in mid-February and open for public consultation until mid-April, can be viewed online.

New document for appealing COMP opinion
The EMEA's Committee for Orphan Medicinal Products (COMP) has released a new document: Procedural Advice on Appeal Procedure for Orphan Medicinal Product Designation. This document delineates the procedure for sponsors who wish to appeal an opinion that an application does not not satisfy orphan medicinal product designation criteria. A sponsor has 90 days to submit an appeal following receipt of the COMP opinion. Read the Appeal Procedure document
EMEA posts schedule for orphan designation application submission deadlines
In accordance with Article 5.5 of Regulation (EC) No 141/2000, the Committee for Orphan Medicinal Products (COMP) will reach an opinion on a valid application for orphan designation within 90 days. The EMEA has posted the schedule of deadlines for submitting applications requesting an orphan medicinal product designation for 2008-2009. Opinions may be reached within the 90 period when no questions are raised by the COMP. For further information on the procedure for designation, sponsors should refer to the Procedure for Orphan Medicinal Product Designation – General Principles (EMEA/14222/00). In preparing an application for orphan designation, sponsors are reminded to follow the Commission guideline (ENTR/6283/00) for the format and content of applications for designation as orphan medicinal products.

National & International Policy Developments
Recommendations issued for genetic testing patenting and licensing
The European Society of Human Genetics (ESHG) has issued a set of Recommendations for the patenting and licensing of genetic tests, designed to encourage fairness and ultimately improve service provision to patients. Recalling the original purpose of the patent system – to promote innovation via a fair reward system for the inventors - the Society has created a set of recommendations that tweak the current patent system by limiting patent attribution in certain areas of genetic testing. Creating an ethics committee within the European Patent Office to study and advise gene patenting in this domain is another recommendation. For genetic testing licensing, the Society recommends following the guidance issued by the Organisation for Economic Cooperation and Development, which discourages license exclusivity and promotes practical and financial access to licensing. Alternative methods to the status quo, including patent pools and clearinghouses, would need to be considered. A voluntary reporting system for geneticists to report patent and licensing issues is also suggested. The ESHG recommends that stakeholders begin the process of developing a code of conduct that would address practical and ethical considerations. The recommendations have been published in the European Journal of Human Genetics.
Read the PubMed abstract.

Other European news
French Health Authority translates rare disease guides into English
No need to brush up on your French to access state-of-the-art information on diagnostics and treatment for rare diseases; the French National Health Authority (HAS) is now translating their diagnosis and treatment protocols for a handful of chronic rare diseases. The first protocol available in English targets Gaucher disease, and is freely accessible via the internet. Containing specific and detailed information for diagnosing and treating the disorder, the protocol was drafted by designated reference centres with methodological support from the HAS. Other protocols scheduled for translation include those on Wilson disease, Turner syndrome, cystic fibrosis, ALS, pulmonary arterial hypertension, and xeroderma pigmentosum.
Consult the Gaucher disease protocol

Ultra rare disease patient group receives funding for a novel collaboration with medical professionals
In the UK, a patient support group has gained funding from the National Commissioning Group in order to contribute its services and expertise to a new multidisciplinary clinic for patients with the rare disorder Alström syndrome. Considered ultra rare, Alström syndrome is a multisystemic disorder characterised by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy, and progressive hepatic and renal dysfunction. The Alström Syndrome UK Support Group, working in conjunction with National Health Service medical professionals, has created unique clinics held in two locations in the UK several times per year that are able to furnish both medical care and social support and information. Prior to the clinics, families were obliged to go from one specialist to another, most of whom rarely worked in collaboration, to test and treat the different aspects of the condition. Under the new scheme, while the medical professionals offer an array of health care services to patients, including cardiology, respiratory, diabetes, metabolism, audiology, psychology, and urology testing, the support group organises the travel and accommodation for patients and is responsible for providing information via the Living with Alström syndrome programme that encompasses diverse elements such as nutrition, exercise, and resources such as psycho-social support. The patient group also created and maintains the first UK database of Alström syndrome patients, which is used by the clinic health professionals. There is presently no other mechanism within the NHS to monitor the incidence of the rare genetic disease. Funded on an indefinite basis, the patient group participation came into being due largely to the sustained efforts of Kay Parkinson, the group’s national coordinator and company secretary. The mother of two Alström syndrome children - one of whom died from the disease, Kay Parkinson is trained as a lawyer and possessed the background and skills necessary to negotiate the considerable red tape initially blocking the group’s participation in the clinics. With the way now paved for this new type of collaboration, the National Commissioning Group reports that it is considering the application of another patient group, this one for ataxia telangectasia, which is applying for similar funding. Contact Kay Parkinson

Orphanet News
New Texts
New Orphanet Journal of Rare Diseases publications
Brown-Vialetto-Van Laere syndrome
The Greig cephalopolysyndactyly syndrome


New Syndromes
Ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities: a new autosomal recessive syndrome
The authors describe three children from the same family presenting ocular colobomas, ichthyosis, and endocrine abnormalities associated with midline brain malformations and mental retardation. Some of the features in this family overlap CHIME syndrome (Coloboma of the eye, Heart defect, Ichthyosiform dermatosis, Mental retardation, and Ear defect), although several features described in CHIME syndrome were not present in these children, including deafness, seizures, oligodontia, and hair abnormalities.
Read the PubMed abstract

The American Journal of Medical Genetics ; 813-819 ; February 2008
Spastic paraplegia and distal muscle wasting caused by neuropathy target esterase gene mutation
The possibility that organophosphorus (OP) compounds contribute to motor neuron disease (MND) is supported by association of paraoxonase 1 polymorphisms with amyotrophic lateral sclerosis (ALS) and the occurrence of MND in OP compound-induced delayed neuropathy (OPIDN), in which neuropathy target esterase (NTE) is inhibited by organophosphorylation. The authors describe patients from two families exhibiting progressive spastic paraplegia and distal muscle wasting. Affected subjects resembled those with OPIDN. They also resemble patients with Troyer syndrome, although they do not have SPG20 gene mutations or present other neurologic or systemic anomalies. PMID: [PubMed - indexed for MEDLINE]
Read the PubMed abstract

The American Journal of Human Genetics ; 780-785 ; March 2008
New autosomal recessive cerebellar ataxia with CABC1/ADCK3 gene mutations
Two studies published in The American Journal of Human Genetics describe a new autosomal recessive cerebellar ataxia caused by ubiquinone deficit. Patients present a progressive ataxia, beginning in chidhood, and cerebellar atrophy. Certain signs, including elevated lactates and mild mental retardation, have also been observed. In all patients ADCK3/CABC1 gene mutations have been identified. This gene is known for its role in ubiquinone biosynthesis in yeast.
Read the first PubMed abstract
Read the second PubMed abstract

The American Journal of Human Genetics ; 661-672 ; March 2008
The American Journal of Human Genetics ; 623-630 ; March 2008


New Genes
Reducing body myopathy: Proteomic identification of the FHL1 gene
Reducing body myopathy (RBM) is a rare disorder causing progressive muscular weakness characterised by aggresome-like inclusions in the myofibrils. Identification of genes responsible for RBM by traditional genetic approaches has been impossible due to the frequently sporadic occurrence of the disease and small family sizes. The authors have identified gene FHL1 via laser microdissection of intracytoplasmic inclusions identified in patient muscle biopsies, followed by nanoflow liquid chromatography-tandem mass spectrometry and proteomic analysis of the most prominent component of the inclusions. FHL1 is mutated in patients and expressed predominantly in skeletal and cardiac muscle.
Read the PubMed abstract

Journal of Clinical Investigation ; 904-912 ; March 2008
Juvenile cataract with microcornea and renal glucosuria: mutation of solute carrier gene SLC16A12
In a family with autosomal dominant juvenile cataract, microcornea, and renal glucosuria, the authors have identified a nonsense mutation in SLC16A12, a member of the carboxylic acid transporter family, with high expression in the eye and kidney.
Read the PubMed abstract

The American Journal of Human Genetics ; 772-779 ; March 2008
Myoclonus epilepsy and glomerulosclerosis: SCARB2/LIMP-2 deficiency at cause
Action myoclonus-renal failure syndrome (AMRF) is an autosomal recessive disorder with the remarkable combination of focal glomerulosclerosis, frequently with glomerular collapse, and progressive myoclonus epilepsy associated with storage material in the brain. Here, the authors identified SCARB2/Limp2, which encodes a lysosomal-membrane protein, as the likely candidate. Mutations in SCARB2/Limp2 were found in all three families used for mapping and subsequently confirmed in two other unrelated AMRF families.
Read the PubMed abstract

The American Journal of Human Genetics ; 673-684 ; March 2008

Research in Action
Fundamental Research
Meckel syndrome: defective differentiation may constitute the initial hepatic defect
Meckel syndrome is an autosomal-recessive disease characterised by a combination of renal cysts, anomalies of the central nervous system, polydactyly and ductal plate malformations, which are hepatic anomalies consisting of excessive and abnormal foetal biliary structures. The authors examined the livers of affected human foetuses and determined that the primary cilia of the biliary cells were absent in some. In addition, defects in hepatic differentiation were observed in Meckel livers. Since differentiation precedes the formation of cilia during liver development, the authors propose that defective differentiation may constitute the initial defect in the liver of Meckel syndrome foetuses.
Read the PubMed abstract

Liver International ; 377-384 ; March 2008
Clinical Research
Prader-Willi syndrome: cross-cultural comparisons of obesity and growth
Prader-Willi syndrome (PWS) is a neurodevelopmental disorder associated with obesity, growth restriction and mild learning disability. The authors compared the body mass index of adult patients from four countries (France, Belgium, UK, and USA) and that of children patients from France, the USA and Germany. The French PWS adults have significantly higher rates of obesity than adults in the UK and the USA, but growth in French children with PWS is similar to levels in the USA and Germany. Clinical management has a greater impact on obesity outcome in PWS than cultural factors.
Read the PubMed abstract

Journal of Intellectual Disability Research ; 426-436 ; 20 February 2008
Kallmann syndrome: correlation between genotype and phenotype
Kallmann syndrome combines hypogonadotropic hypogonadism due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs). Patients can be carriers of mutations in the genes KAL1 or KAL2. In this study involving 39 patients, the authors demonstrate that mutations in KAL1 are linked to a more severe reproductive phenotype. KAL2 mutations are associated with a broader spectrum of pubertal development and with less severe impairment of gonadotropin secretion.
Read the PubMed abstract

Journal of Clinical Endocrinology and Metabolism ; 758-763 ; March 2008
Down syndrome: treatment and prognostic impact of transient leukaemia in neonates
Approximately 10% of the neonates with Down syndrome (DS) exhibit a unique transient leukaemia. Though the condition resolves spontaneously in most patients, early death and development of myeloid leukaemia may occur. Prognostic factors as well as treatment indication are currently uncertain. The authors collected clinical, biologic, and treatment data of 146 patients with transient leukaemia. Multivariate analysis revealed a correlation between high white blood cell count, ascites, preterm delivery, bleeding diatheses, failure of spontaneous remission, and the occurrence of early death. Treatment with cytarabine, administered to 28 patients, had a beneficial effect on the outcome of those children with risk factors for early death.
Read the PubMed abstract

Blood ; 2991-2998 ; March 2008
Gene Therapy
Duchenne muscular dystrophy: myostatin inhibitors enhance long-term skeletal muscle mass and strength in mouse models
Increasing the size and strength of muscles represents a promising therapeutic strategy for musculoskeletal disorders, and interest has focused on myostatin, a negative regulator of muscle growth. Various myostatin inhibitor approaches have been identified and tested in models of muscle disease with varying efficacies, depending on the age at which myostatin inhibition occurs. Here, the authors describe a one-time gene administration of myostatin-inhibitor-proteins to enhance muscle mass and strength in normal and dystrophic mouse models for >2 years, even when delivered in aged animals. These results demonstrate a promising therapeutic strategy that warrants consideration for clinical trials in human muscle diseases.
Read the PubMed abstract

PNAS USA ; 4318-4322 ; March 2008
Therapeutic Approaches
Fragile X mental retardation syndrome: SIRT1 inhibition alleviates gene silencing
Fragile X syndrome is the most frequent cause of inherited mental retardation. Clinical features other than mental retardation include subtle dysmorphism, behavioral abnormalities and macroorchidism in postpubertal males. Fragile X syndrome is caused by the expansion of trinucleotide repetitions in the gene FMR1. The mechanism of gene silencing is unknown. The authors report that a Class III histone deacetylase, SIRT1, plays an important role in this silencing process and show that the inhibition of this enzyme produces significant gene reactivation.
Read the PubMed abstract

PLoS Genetics ; e1000017 ; March 2008
Vitiligo: piperine increases pigmentation in mouse models
Vitiligo is an acquired skin disorder characterised by white and depigmented patches enlarging and becoming more numerous with time. It is due to a disappearance of functioning melanocytes and loss of melanin in the epidermis. The authors investigated the ability of piperine and three analogues to stimulate pigmentation in a strain of sparsely pigmented mice. Repigmentation was achieved by administering one of the compounds, UV irradiation or both, and occurred faster than in naïve mice.
Read the PubMed abstract

British Journal of Dermatology ; 941-950 ; 16 February 2008
Diagnostic Approaches
Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen
Autoimmune polyendocrine syndrome type 1 (APS-1) is a multiorgan autoimmune disorder caused by mutations in AIRE, the autoimmune regulator gene. In a study involving 87 APS-1 patients and 293 controls, including patients with other autoimmune disorders, the authors detected NALP5-specific autoantibodies present in 49% of the patients with APS-1 and hypoparathyroidism, but absent in all patients with APS-1 but without hypoparathyroidism, in all patients with other autoimmune endocrine disorders, and in all healthy controls. They conclude that autoantibodies against NALP5 appear to be highly specific and may be diagnostic for this prominent component of APS-1.
Read the PubMed abstract

NEJM ; 1018-1028 ; March 2008

Patient Management and Therapy
Amyotrophic lateral sclerosis: lithium delays progression
Amyotrophic lateral sclerosis (ALS) is a relentlessly progressive neurodegenerative disorder with no effective treatment. In this study, the authors found that daily doses of lithium delay disease progression in human ALS patients. None of the patients treated with lithium died during the 15 months of the follow-up, and disease progression was markedly attenuated when compared with age, disease duration, and sex-matched control patients treated with riluzole for the same amount of time. In a parallel study on a genetic ALS animal model, the authors found a marked neuroprotection by lithium, which delayed disease onset and duration and augmented the life span.
Read the PubMed abstract

PNAS USA ; 2052-2057 ; February 2008
DEND syndrome: sulfonylurea therapy appears equally beneficial in adults
In DEND syndrome (developmental delay, epilepsy, and neonatal diabetes), the administration of inhibitory sulfonylureas has improved neurological features in two paediatric patients. In this study, a 27-yr-old patient was transferred from insulin to gliclazide and then to glibenclamide. The patient demonstrated improved glycemic control and motor coordination, although glibenclamide was more effective than gliclazide. The results demonstrate that sulfonylureas can resolve motor dysfunction in an adult with intermediate DEND.
Read the PubMed abstract

Journal of Clinical Endocrinology and Metabolism ; 1054-1061 ; March 2008
Duchenne muscular dystrophy: recommendations for diagnosis and treatment
Treat-NMD, the European network of excellence for neuromuscular diseases, has published interim standards of care recommendations for the diagnosis and management of Duchenne muscular dystrophy. A more detailed set of recommendations is being developed by the US Centers of Disease Control in collaboration with Treat-NMD, and will be available on the network’s website.
Read the recommendations


Orphan Drugs
Eight EMEA orphan drug designations for April

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

- thrombotic thrombocytopenic purpura
- congenital alpha-1 antitrypsin deficiency
- multiple myeloma
- malignant mesothelioma
- pancreatic cancer
- haemophilia B
- haemophilia A
- glioma
Consult the European Registry for Orphan designations
Consult the Orphanet list of orphan drugs authorised for marketing in Europe

Acute myeloid leukaemia treatment receives negative opinion for marketing authorisation in Europe
The EMEA Committee for Medicinal Products for Human Use (CHMP) has adopted a negative opinion, recommending the refusal of marketing authorisation for the medicinal product Ceplene (histamine dihydrochloride), intended for the maintenance of remission in acute myeloid leukaemia. Ceplene is manufactured by EpiCept GmbH and received an orphan designation in April 2005.
Read the EMEA document accompanying the CHMP recommendation

Positive CHMP opinion for icatibant acetate to treat hereditary angioedema in adults with C1-esterase-inhibitor deficiency
The Committee for Medicinal Products for Human Use (CHMP) has recommended marketing authorisation for Firazyr (icatibant acetate), from Jerini AG, for the treatment of hereditary angioedema in adults with C1-esterase-inhibitor deficiency. Firazyr is the 47th orphan medicine to receive a positive opinion. EMEA review began on 15 August 2007 with an active review time of 204 days.

What's on Where?
Second International Workshop on Minicircle-DNA
Date: 7-9 May 2008
Venue: Bielefeld, Germany

Following on the success of the 2007 conference, and focusing on technology and IP and application. The workshop is supported by CLINIGENE, the European Network of Excellence for the advancement of clinical gene transfer and therapy. CLINIGENE is offering 10 grants (500 Euros) for trainees or post-docs attending this meeting. Please contact CLINIGENE for further information.
For further details

First International Meeting of Moebius Syndrome
Date: 16-17 May 2008
Venue: Valencia, Spain

Held in English and Spanish, the conference will focus on cranial nerves and brain stem; Moebius syndrome or sequence; natural history of Moebius syndrome; rare diseases and Moebius syndrome; ophthalmological problems; deglutition problems; oral health in Moebius; speech-language therapy; club feet in Moebius; Poland anomaly in Moebius syndrome; genetics of Moebius syndrome; psychological support; facial surgery (Zuker’s facial animation surgery); and living with Moebius syndrome: personal experiences of affected people.
For further details

ICORD 4th International Conference on Rare Diseases and Orphan Drugs
Date: 20-22 May 2008
Venue: Washington, DC US
For further details

13th International Conference for Behçet's Disease and 5th Patients' Convention
Date: 24-27 May 2008
Venue: Klagenfurt, Austria

With presentations and discussions on oral, eye, genital and skin involvement, as well as paediatric patients, drug trials and future perspectives.
For further details

Myology 2008: Treatments – The Turning Point
Date: 29 May - 1 June 2008
Venue: Marseilles, France

Focusing on the development of therapies and the setting up of trials on humans for rare diseases in the field of myology.
For further details

First Conference on Translational Research in Paediatric Rheumatology
Date: 29 May - 1 June 2008
Venue: Genoa, Italy

Using the field of rare paediatric rheumatic disorders as a paradigm, Anticipating Changes in Drug Development for Children: Building on Paediatric Rheumatology will examine the medicine research and development process, from pre-clinical and early-phase clinical development, to biomarker validation, study design and management, data analysis, ethical review, regulatory submission and research governance. The conference is meant to further stimulate interaction among the three major stakeholders in the drug development process, namely, academia, industry and regulatory authorities.
For further details

5th International Congress of Rehabilitation in the Field of Neuromuscular Disorders
Date: 30 May – 1 June 2008
Venue: Marseilles, France

With sessions on gene-based therapies, patient evaluation, pain and fatigue management, and treatment options.
For further details

EuroGentest Genetic Testing Accreditation and Quality Assurance Programmes
Date: 30-31 May 2008
Venue: Barcelona, Spain

EuroGentest presents two workshops and a round table session on the topics of accreditation in genetic testing labs, quality assurance and managing the human side of change.
For further details

International Down Syndrome Screening Group 8th International Congress
Date: 31 May- 1 June 2008
Venue: Vancouver, Canada

Held in conjunction with the International Society for Prenatal Diagnosis conference, taking place immediately afterward.
For further details

40th European Human Genetics Conference
Date: 31 May-3 June 2008
Venue: Barcelona, Spain

In conjunction with the European Meeting on Psychosocial Aspects of Genetics 2008. Progamme will cover the latest developments in the field of human genetics that are of interest both for clinicians and research scientists.
For further details

14th International Conference on Prenatal Diagnosis and Therapy
Date: 1-4 June 2008
Venue: Vancouver, Canada

Conference sessions will include foetal imaging, cytogenetics, foetal DNA/RNA, PGD, screening, teratology, and legal aspects of prenatal diagnostics and therapy.
For further details

5th International Conference on Alpha1-antitrypsin Deficiency
Date: 10 June 2008
Venue: Birmingham, UK

Conference sessions will include genetic and environmental factors, screening, and treatment approaches.
For further details

5th International Cystinosis Conference
Date: 27-28 June 2008
Venue: Dublin, Ireland

World experts in the field of Cystinosis will attend and the latest research in this very rare disease will be presented. The event is unique as it combines a high-level scientific and medical conference as well as being a family and patient friendly conference.
For further details

Fourth International Neuroacanthocytosis Symposium: Bridging Clinical and Basic Aspects
Date: 1-2 July 2008
Venue: Oxford and London, England

Including clinical aspects of chorea acanthocytosis and McLeod syndrome, muscle and nerve neuropathology and syndromes related to NA. View the programme.
For further details

15th Retina International World Congress
Date: 4-5 July 2008
Venue: Helsinki, Finland

Clinical diagnostics of retinal dystrophies, genetic diagnostics and research, Usher syndrome, ongoing clinical trials.
For further details

Fourth International Conference on Metals and Genetics
Date: 21-24 July 2008
Venue: Paris, France

The main topics will include metal-associated diseases: molecular and systemic biology approaches; characterisation and speciation of metal in proteins and biological tissues; and metals and environmental health implications.
For further details

Barth Syndrome: On Track Toward a Cure - 4th International Conference
Date: 21-26 July 2008
Venue: Florida, USA

This conference will be dedicated to increasing knowledge and accelerating advances in research for this rare metabolic genetic disorder. It will bring together basic scientists, clinical researchers, treating physicians, other professionals, and affected individuals and families to focus on the syndrome through a series of carefully organised sessions.
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. Deadline for abstract submission is 15 June, 2008.
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

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.
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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.
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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.
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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


Press & Publications
Publication surveys prenatal diagnosis for specific conditions across Europe
A study published in the May 2008 issue of JBOG: An International Journal of Obstetrics and Gynaecology attempts to chart prenatal diagnosis practices for Down syndrome and neural tube defects throughout 18 European countries. The study reveals a wide variation between factors such as the type of non-invasive tests used for Down syndrome diagnosis, the availability of different tests, and the number of ultrasound scans offered. Sixty-eight percent of Down syndrome cases were prenatally detected, of which 88% were terminated. Eighty-eight percent of neural tube defect cases were prenatally detected, 88% of which resulted in termination. Over half of the countries surveyed have official national policies or recommendations for first or second trimester screening. These policies impact prenatal detection rates for Down syndrome; in particular, policies promoting first trimester screening lead to significantly higher detection rates.
Consult the article


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
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Editorial Board: Ségolène Aymé, Catherine Berens, Helen Dolk, Anders Fasth, Laura Fregonese, Edmund Jessop, Matthieu Levi-Strauss, Jordi Llinares-Garcia, Antoni Montserrat, Annie Olry, Manuel Posada de la Paz, Ewa Pronicka, Claire Scharf-Kroener, Janos Sandor, Domenica Taruscio, Paloma Tejada, T.O.F. Wagner
For more information on the Rare Diseases Task Force
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