28 March 2007 print
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Steps have been taken to develop a National Plan for Rare Diseases in Spain

The 3rd International Congress on Orphan Drugs and Rare Diseases was held in Seville, Spain on 14-17 February. Created in 1999, the Conference was sponsored by the Seville Pharmaceutics College and the Spanish Rare Disease Patients' Federation (FEDER), a member of EURORDIS. The previous 2 conferences, held in 2004, aimed at updating questions about rare disease and orphan drugs. At the last conference, these 2 institutions tried to demonstrate recent advances achieved in health, social and political areas with regard to rare diseases. All speakers indicated the tremendous impact that many policy decisions taken over the past two years will have on patients and families in the near future. The most important events highlighted during the conference were: the important new Spanish decree on reference centres; the new social reference centre created in Burgos, Spain, due to open this year; the new decision adopted by the Spanish Senate recommending that the Spanish Government create a new Rare Disease Organization to take charge of the coordination and promotion that patients need at State level. A full list of the recommendations approved by the 3rd Conference has been listed and will be sent to regional and national politicians as well as to health authorities.

Read the full list of recommendations from the 3rd International Congress of Orphan Drugs and Rare Diseases, Seville

Further reading (in Spanish only):
Real Decreto 1302/2006, de 10 de noviembre - Royal Decree approved Nov 2006
Recomendaciones de la Ponencia del Senado - Conclusions of the Senate speech
Boletin Oficial de las Cortes Generales - Full Senate speech including conclusions & members'speeches


EU Policy News
DG Enterprise
Consultation on a draft Guideline on aspects of the application of Article 8(2) of Regulation (EC) No 141/2000 on orphan drugs

This draft guideline was published on 7 March 2007 and concerns the review of the period of market exclusivity, granted to orphan medicinal products under the above-mentioned regulation. Regulation (EC) No 141/2000 of the European Parliament and of the Council of 16 December 1999 on orphan medicinal products lays down a Community procedure for the designation of medicinal products as orphan medicinal products and provides incentives for the research, development and placing on the market of such products. In particular, Article 8(1) provides for a period of ten years of market exclusivity where a marketing authorisation in respect of an orphan medicinal product is authorised throughout the Community. In turn, Article 8(2) provides that this period may be reduced to six years if it is established that the designation criteria are no longer met. In this respect, this draft guideline sets out the general principles and procedures by which the period of market exclusivity of orphan medicinal products is reviewed and may be reduced to six years.

Read the Draft Guideline

Express your comments here on the draft guideline (before 7 May 2007).

The biopharmaceutical industry welcomes the Commission's draft guideline on market exclusivity for OMPs Regulation

Reactions from the biopharmaceutical industry to this important guideline were positive this month, as companies researching and developing rare disease treatments gave an enthusiastic welcome to the Commission's 7 March draft guideline, in recognition of the degree of legal certainty for orphan product market exclusivity that this has brought with it.

Erik Tambuyzer, Co-Chair of EPPOSI and Chair of EuropaBio/EBE's Task Force on orphan medicines, praised the Commission for what he called its "strong message of support for the development of orphan medicines in Europe through various actions, including the Commission Report from June 2006 on the 5-year experience of the Regulation and now this draft guideline". He added that it was "very good news for patients" since it provided the industry with the stability and confidence it requires over a longer-term period to invest in treatments for rare diseases.

Read the EuropaBio/EBE Press Release


Ethical, Legal & Social Issues
The UK’s HFEA authorises egg donations for biomedical research

The Human Fertilisation and Embryology Authority (HFEA)), created in 1991 under the Human Fertilisation and Embryology Act (1990) to license and monitor the UK’s IVF treatment clinics, has recently authorised the donation of eggs for biomedical research. All women will be allowed to donate their eggs to research both as an altruistic donator and as part of their own IVF treatment, providing they are properly informed of the risks involved in the procedure and that they are well protected from coercion. It is now therefore possible for women in Britain to donate for research using the same rules as donation for treatment but with clearly established safeguards.

Women donators are not legally entitled to receive payment for donating their eggs, and the most they can receive is reimbursement for actual expenses incurred (maximum 370 €). The HFEA stresses that women donating eggs for research will be given protection within a tightly regulated sector. In addition, it is pointed out that donators for research will be unable to complete the exercise without giving some serious thought to the matter. Researchers will have to wait until after agreement in order to allow the woman donator proper time to reconsider her decision and will receive counselling about the risks and implications of this donation procedure.

Read the HFEA Statement on Donating Eggs for Research


EU Project Follow-up
STEM-HD: 'Stem cells for Therapeutics and Exploration of Mechanisms in Huntington Disease' , a research project

The STEM-HD research project, supported by the EU Framework Programme 6 (FP6), has just been given the go-ahead by the Commission for a 3-year duration (2007-2010*). The STEM-HD trans-national project (Embryonic stem cells for therapy and exploration of mechanisms in Huntington disease) will investigate the use of human embryonic stem cell strains in order to study genetic diseases, with Huntington disease as its model.

* contract no. LSHB-CT-2006-037349

Read the Press Release (in French only)
Contact Marc Peschanski for more details

To read more about "Huntington disease"


Orphanet News
New Texts
Orphanet Journal of Rare Diseases
Here are the latest texts published in the OJRD:

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome (Review)
Successful whole lung lavage in pulmonary alveolar proteinosis secondary to lysinuric protein intolerance: a case report (Case Report)
Cirrhotic cardiomyopathy (Review)

The following texts have just been published in the European Journal of Human Genetics, in association with Orphanet:

CHARGE syndrome: an update

New Research Projects open for Recruitment
An international multicentric trial in Germany and France: Fabry Disease
Stroke in Young Fabry Patients (SIFAP2) in France
Stroke in Young Fabry Patients (SIFAP2) in Germany

A national monocentric trial in Denmark : MLD
Metazym for the Treatment of Patients with Late Infantile Metachromatic Leukodystrophy (MLD) in Denmark

New Syndromes
Hypertelorism, facial dysmorphism, severe myopia, light intellectual deficiency and bone fragility: a new syndrome ?

Two brothers born to double first cousins, with a severe hypertelorism, brachycephaly, prominent ears, sloping shoulders, dental enamel hypoplasia, osteopenia with repeated fractures, severe myopia, moderate hearing loss and light intellectual deficiency. Cytogenetic analysis was normal.
Read the Pubmed abstract

Am J Hum Genet. ; 143(3):229-34 ; 1 Feb 2007
A recessive metabolic bone disorder differing from the conventional form of osteogenesis imperfecta

An American team describes 5 patients in Nature Genetics with severe or lethal forms of a bone disorder with an autosomal dominant transmission. Certain clinical signs, such as severe osteoporosis and irregular shortening of the long bones, are caracteristic of type III osteogenesis imperfecta. However, patients presented specific symptoms: white sclerotic plaques, a round face and a barrel-shaped thoracic cage. The 5 patients have mutations in the LEPRE1 gene which encodes Prolyl 3-hydroxylase 1. This enzyme, which hydroxylates the Proline986 residue of the type I collagen, seems essential for bone development.
Read the Pubmed abstract

Nat Genet. ; 39(3):359-65 ; Mar 2007
Pseudoxanthoma elasticum-like phenotype with cutis laxa associated with multiple coagulation factor deficiencies

Six patients manifest a hyperlaxity of the skin over the entire body, contrary to pseudoxanthoma elasticum and cutis laxa where the skin folds are restricted to specific zones. This phenotype is associated with a deficiency of the vitamin K-dependent coagulation factors. Five of these patients, and a patient previously described, carry mutations of the GGCX gene, encoding a gamma-glutamyl carboxylase that is already implicated in vitamin K-dependent congenital coagulation factor deficiency.
Read the Pubmed abstract

J Invest Dermatol. ; 127(3):581-7 ; Mar 2007

New Genes
BCS1L mutations in Bjornstad syndrome

Bjornstad syndrome is a piliary dysplasia associated with pili torti of the hair, eyelashes and eyebrows and with hearing loss. The 2q34-36 locus was linked to autosomal recessive transmission of the disease. By sequencing 44 genes included in a redefined genetic segment, researchers have identified mutations in the BCS1L gene, encoding a member of the AAA-family of ATPases necessary for assembly of the mitochondrial respiratory chain complex III . BCS1L mutations are associated with two other severe mitochondrial diseases, the complex III deficiency and the GRACILE syndrome. All mutations identified in BCS1L prevent the assembly of complex III. The mutations revealed in Bjornstad syndrome alter protein-protein interactions of BCS1L whilst those causing the complex III deficiency modify ATP binding. However, only these latter mutations are associated with the production of reactive oxygen derivatives and multi-systemic insufficiency leading to neonatal death.
Read the Pubmed abstract

To read more about "Björnstadt syndrome"

NEJM ; 356(8):809-19 ; 22 Feb 2007
Two new loci associated with autism development risk

Autism is a developmental disorder characterised by difficulties relating to language, perception and sociability. An international consortium entitled "The Autism Genome Project", has carried out a linkage analysis on 1,168 families including at least two affected family members. This study made it possible to identify 2 loci: the 11p12-13 region and the neurexin 1 gene locus. The corresponding protein interacts with the neuroligins, whose mutations are already known as a risk factor in the development of autism. These proteins are implicated in the glutamatergic synaptogenesis.
Read the Pubmed abstract

To read more about "Autism"

Nat Genet. ; 39(3):319-28 ; Mar 2007
Platelet factor 4 silencing: a major event in the genesis of multiple myeloma

Multiple myeloma is a progressive malignant hemopathy which may start as a monoclonal gammopathy of undetermined significance (MGUS). A team of Chinese researchers compared the chromosomal rearrangements identified in patients’ cells having developed a MGUS or variable stages of multiple myeloma. This way, they detected a common deletion of the 4q13.3 locus in approximately half of the samples. Additionally, in more than half of the patients’ cells affected by multiple myeloma, they observed a decreased expression of a gene localised as 4q13.3 and encoding the platelet factor 4 (PF4), due to the hypermethylation of its promoter. The inactivation of PF4, an anti-angiogenic chemokine, is probably a critical event in the oncogenesis process.
Read the Pubmed abstract

To read more about "Myeloma, multiple"

Blood ; 109(5):2089-99 ; 1 Mar 2007

Research in Action
Fundamental Research
Rett syndrome: British researchers corrected neurological defects in Rett model mice

Rett syndrome is a serious developmental defect in the central nervous system observed in girls due to a mosaic expression of mutations of the MECP2 gene localised on the X-chromosome. In mouse models of Rett syndrome, Guy et al. have restored the lost expression of theMECP2 gene and were thereby able to correct the neurological symptoms observed in young animals and adults. These results demonstrated that it is possible to restore the pathological phenotype and provide the first step towards the research of a new therapeutic approach.

To read more about "Rett syndrome"

Science ; 315(5815):1143-7 ; 23 Feb 2007
Type I spino-cerebellar ataxia is corrected in the mouse by overexpression of an ataxin-1 paralog

Type I spino-cerebellar ataxia is a neurodegenerative disease with autosomal dominant transmission due to the expansion of glutamine repetitions in the ataxin-1 (ATXN1) protein. American researchers duplicated in Rett model mice the locus of the Atxn1l gene, a Atxn1 paralog, thereby increasing its level of expression. In these conditions, Atxn1l displaces the mutant Atxn1 protein in the complex formed with Capicua and thus suppresses the neuropathology. These results confirm the hypothesis according to which the pathological effect of the mutant ataxin-1 works through the normal function of the protein.
Read the Pubmed abstract

To read more about "Cerebellar ataxia, autosomal dominant"

Nat Genet. ; 39(3):373-379 ; Mar 2007
Tcra locus integrity and the maturation of double positive thymocytes are disturbed in ataxia-telangiectasia

Ataxia-telangiectasia is an autosomal recessive disorder characterised by neurodegeneration, sterility, immunodeficiency and T-cell leukemia. It is due to mutations of the ATM gene, whose product is probably implicated in V(D)J recombination. In mice with an Atm deficiency, researchers have observed a disturbance in the maturation of double positive thymocytes and a deletion of distal segments in the alpha chain of the TCR. These results suggest that Atm is necessary for the maintenance of the Tcra locus’ integrity during the V(D)J recombination and explains the T-cell immune deficiency observed in patients with ataxia-telangiectasia.
Read the Pubmed abstract

To read more about "Ataxia telangiectasia"

Blood ; 109(5):1887-96 ; 1 Mar 2007
Clinical Research
The shortening of telomere length is associated with early tumour development in Li-Fraumeni syndrome

Li Fraumeni syndrome (LFS) is a predisposition to various tumours frequently associated with germinal mutations in the P53 gene. The age at which the tumour appears is variable between different families and within the same family. Tabori et al. analysed the telomere length variation in 9 families affected and 15 controls. They observed shorter telomeres in affected carrier children compared to unaffected carriers and the shortening of the telomere was quicker in carriers than in control individuals. Moreover, the accelerated shortening of the telomeres could increase the genomic instability and explain the increasingly early appearance of cancers across generations of the same family.

To read more about "Li-Fraumeni syndrome"

Cancer Res. ; 67(4):1415-8 ; 15 Feb 2007
Anomalies in the radius extend the Goldenhar syndrome spectrum

The Goldenhar syndrome or oculoauriculovertebral spectrum (OAVS) is characterised by an asymmetric facial hypoplasia, ocular anomalies, a microtia and vertebral malformations. These clinical signs may be associated to cardiac, cerebral, renal or gastro-intestinal anomalies. Vendramini et al. describe 24 patients associating an OAV and radius anomalies. The association of these two phenotypes, found in 26 other patients described in the literature, could form a new group in the OAV spectrum.

To read more about "Goldenhar syndrome"

European Journal of Human Genetics ; Epub ahead of print ; 7 Feb 2007
Digenic transmission explains the phenotypical variability in families affected by hypogonadotrophic hypogonadism

In families affected by idiopathic hypogonadotrophic hypogonadism, an inter- and intra-familial variability in addition to an incomplete penetrance are indicators of a multifactorial transmission. Pitteloud et al. present a study on two families, one associating a heterozygote mutation of the FGFR1 gene with variable forms of Kallmann’s syndrome (hypogonadism associed with anosmia), the other in which composite heterozygotes mutations of the GNRHR genes are linked to hypogonadotrophic hypogonadism. Sequence analysis of other candidate genes have enabled them to identify supplementary heterozygote mutations in the NELF and FGFR1 genes. The digenic transmission explains both the phenotypical variability and the severity of the phenotypes sometimes observed.

To read more about "Hypogonadism, isolated, hypogonadotropic"
To read more about "Kallmann syndrome"

Journal of Clinical Investigation ; 117(2):457-463 ; 1 Feb 2007
Hypogonadotrophic hypogonadism: anti-pituitary antibodies against Gonadotrophin-secreting cells

Hypogonadotrophic hypogonadism is a gonadotrophin deficiency which may sometimes be associated with a pituitary or generalised hypothalamic deficiency. Italian researchers detected the presence of anti-pituitary antibodies targeting gonadotropic cells in patients affected by isolated hypogonadotrophic hypogonadism as well as other hormone-secreting cells in patients affected by a more generalised deficiency. The possibility of an auto-immune process referred to by this study opens a new track for the understanding of the mechanism of this pathology.
Read the Pubmed abstract

To read more about "Kallmann syndrome"
To read more about "Hypogonadism, isolated, hypogonadotropic"

J Clin Endocrinol Metab. ; 92(2):604-7 ; Feb 2007
Sequencing benefits of dystrophin in the Duchenne but not in the Becker muscular dystrophy

The Duchenne and Becker muscular dystrophies are due to alterations in the gene encoding the dystrophin. The large size of this gene and the number of mutations associated with the illness are an obstacle to the use of genetic tests. Akber et al. tested the utility of associating amplification of the dystrophin gene and direct sequencing of the coding regions and intron-exon boundaries. This combination has enabled them to detect the causal mutations in 98% of the individuals presenting a suspicion of DMD but only for 60% of patients tested for BMD. In addition, the identified mutations in BMD are all deletions or duplications. It would therefore not seem necessary to carry out a dystrophin gene sequencing for the molecular diagnosis of this latter disease.

To read more about "Muscular dystrophy, Duchenne and Becker types"

Genet Test. ; 10(4):229-43 ; Winter 2006
Genotype/phenotype correlation in 325 patients affected with tuberous sclerosis

Tuberous sclerosis is an autosomal dominant neurocutaneous disorder due to mutations in the TSC1 or TSC2 genes. Au et al. identified pathogenic mutations in 325 patients. According to their study, the carriers of mutations in the TSC2 genes show more severe symptoms, including a high level of macules as well as serious learning disability. In addition, male patients showed more frequent neurological and eye symptoms, renal cysts and ungula fibromas.

To read more about "Tuberous sclerosis"

Genet. Med. ; 9(2):88-100 ; Feb 2007
Rhabdomyosarcoma : uniparental disomy and HRAS gene mutations

Rhabdomyosarcoma is a multisystemic malignant tumour of the striated muscle. Alterations in the 11p15.5 locus are associated with the disease's development. This locus contains the HRAS gene, the mutations of which have been identified in patients affected with Costello syndrome. A number of these patients have a predisposition to rhabdomyosarcoma. Kratz et al. researched the alterations of this locus in 6 patients who developed rhabdomyosarcoma. Five patients present a uniparental disomy of the locus and heterozygotes mutations of HRAS were observed in 2 of them. Therefore, the transmission of the 2 alleles of the locus by the same parent happened before the occurrence of mutations in the HRAS gene. These 2 events appear to cooperate independently in the development of rhabdomyosarcoma.

To read more about "Rhabdomyosarcoma"

Human Molecular Genetics ; 16(4):374-9 ; 15 Feb 2007
Stem Cells
Cells derived from adult human pericytes are able to generate new muscular fibres

Italian researchers have isolated pericyte-derived cells from human muscular biopsies. Pericytes are undifferentiated cells situated under the basal lamina of skeletal muscle vessels. These cells are capable of spontaneously forming myotubes. Transplanted in immunodeficient muscular dystrophy model mice, they are able to generate new fibres expressing human dystrophin. These myogenic precursors, which are distinct from satellite cells, represent a new source of cells for the establishing of future cell-therapy protocols in patients with muscular dystrophy.
Read the Pubmed abstract

Nat Cell Biol. ; 9(3):255-267 ; Mar 2007
Therapeutic Approaches
Correction of cardiac and respiratory functions in Pompe mice

American researchers had previously demonstrated that the expression of acid alpha glucosidase (GAA) via an adeno-associated viral vector re-establishes physiological enzymatic activity in the heart and diaphragm of Pompe mice. This study demonstrates that in adult mice, the expression of GAA via this vector causes an improvement in the cardiac and respiratory functioning.
Read the Pubmed abstract

To read more about "Glycogen storage disease type 2"

Mol Ther. ; 15(3):501-7 ; Mar 2007
Smith-Lemli-Opitz syndrome : a cholesterol-rich diet corrects retinopathies in rats

Smith-Lemli-Opitz syndrome (SLOS) is caused by defects in cholesterol biosynthesis which lead to various abnormalities including facial dysmorphia, cognitive and behavioural impairments, psychomotor difficulties and retinopathy. Through a cholesterol-rich diet given to SLOS rats, researchers observed a correction of the visual function, indicating that the cholesterol is capable of crossing the blood-retina barrier. Increasing the amount of cholesterol taken could therefore prove to be an efficient treatment for retinopathies associated with SLOS.
Read the Pubmed abstract

To read more about "Smith-Lemli-Opitz syndrome"

Pediatr Res. ; 61(3):273-278 ; Mar 2007
A pharmacological treatment increases the GAA enzymatic activity in fibroblasts of certain patients with Pompe disease

Pompe disease is a lysomal storage disease caused by acid alpha-1.4-glucosidase (GAA) deficiency. Parenti et al. tested the effects of two imino sugars, deoxynojirimycine and N-butyldeoxynojirimycine, on GAA activity in fibroblasts of 8 patient carriers of different missense mutations. In the cells of 4 patients (2 distinct mutations), the increase in enzymatic activity is correlated to a better subcellular localisation of the enzyme and to a greater quantity of functional GAA. In the other patients’ fibroblasts no difference was observed.

To read more about "Glycogen storage disease type 2"

Mol Ther. ; 15(3):508-14 ; Mar 2007

Patient Management and Therapy
Kawasaki disease: adding corticosteroids to current treatment is not beneficial

Kawasaki disease is an infant vasculitis of small- and medium–sized arteries. Administering immunoglobulins and aspirin reduces the risk of coronary and arterial insufficiency and of systemic inflammation. Newburger et al. analysed the benefits of administering corticosteroids in addition to this treatment. Carried out in double blind on 199 patients, the study suggests that the addition of methylprednisolone does not significantly improve the treatment’s efficiency.
Read the Pubmed abstract

To read more about "Kawasaki disease"

NEJM ; 356(7):663-75 ; 15 Feb 2007

Orphan Drugs
Four positive opinions on OMP designation
Four positive opinions on OMP designation were adopted at the last EMEA COMP meeting held on 7-8 March 2007, for the following indications:

- Prevention of corneal graft rejection
- Treatment of metachromatic leukodystrophy
- Treatment of gastrointestinal stromal tumours
- Treatment of peripheral T-cell lymphoma

EMEA reports a record number of applications and reduced assessment times in 2006

The European Medicines Agency this month published its annual report for 2006 to reveal some particularly positive developments, notably in its record number of applications and simultaneously, some impressive reductions in assessment times.

Last year, the EMEA received a record-breaking 78 applications for medicines for human use: up by 37 in 2005, including 18 applications for orphan medicines. The highest-yet number of positive opinions for marketing authorisations - 51 - were adopted for initial marketing authorisation for medicines for human use, 11 of which are intended for treatment of rare diseases. No fewer than 104 orphan designation applications were received: the 3rd year running that more than 100 were received. Requests received for scientific advice and protocol assistance were also up to 257: 25% more than in 2005.

Read the 2006 EMEA Annual Report

Consult the 2006 European Register of Orphan Drugs

EUSA Pharma Inc is taking over the biopharmaceutical orphan drugs company, OPi

The Anglo-American company EUSA-Pharma has just bought up the French orphan products company OPi for €100 million. Created in 1999, OPi specialises in the development of orphan drugs in the fields of toxicology, haematology, transplants and oncology. It is currently marketing 4 orphan medicinal products and owns 3 products in development: 2 clinical and 1 pre-clinical.
Read the OPi Press Release
Nexavar® : an orphan drug for kidney cancer in Europe and the US now also to be used for liver cancer

The orphan drug Nexavar® has been shown to extend the survival of patients with advanced liver cancer. A recent Phase 3 trial for Nexavar® (sorafenib) which is already used in the treatment of advanced kidney cancer in Europe and the US, has recently shown that this orphan drug was efficient in the treatment of advanced hepatocellular carcinoma (HCC) or primary liver cancer. This drug has already received EMEA marketing authorisation for kidney cancer treatment and is a designated orphan medicinal product for liver cancer.
Read the Press Release

To read more about "Hepatocellular carcinoma"

FDA Approval for Soliris (eculizumab) for treatment of paroxysmal nocturnal hemoglobinuria (PNH)

Soliris (eculizumab) is the first of its kind to be approved for treatment of the rare blood disorder, paroxysmal nocturnal hemoglobinuria (PNH)which can lead to disability and premature death. PNH is characterized by red blood cells that develop abnormally, ultimately causing anemia. Soliris inhibits the complement system activity and thereore treats the breakdown of red blood cells. The disorder affects about one in a million people in the United States.

Read the FDA Press Release

To read more about "Paroxysmal nocturnal hemoglobinuria"

Orphan Diseases Drug Development Weekly : a new orphan drugs e-journal

HiTIS life science & biotech intelligence has launched a new electronic journal dealing with the development of orphan drugs and companies making market investments. The information is clearly presented by topics and titles (product research and development, regulatory affairs, industrial property, academic collaboration, funding, deals, litigation and direct links to news sources, etc.).


News from the Patients' Associations
EURORDIS' contribution to the Discussion Document on EU Health Strategy: at the cutting edge of future health policy

EURORDIS has published its response to the Commission’s Discussion Document, “Health in Europe: a Strategic Approach” (see Orphanews Europe - 7 Feb edition - Health in Europe : a Strategic Approach). In this 7-page contribution, the European patients' organisation sets out a comprehensive set of recommendations relating to what it identifies to be the main points of DG SANCO’s proposed 10-year Health Strategy recently undergoing public discussion.

Supporting what it believes to be the Community’s legitimate role in taking global European action where justified as more effective than at the national or regional level, EURORDIS argues that this action is particularly important, given the specific nature of rare disease (RD) needs. It points out that the rare disease sector is carrying out pioneering work at the cutting edge of future health policy, and cites progress achieved in areas such as improvements in access to health services, compensation of inequalities and disabilities, and a comprehensive approach to patient care. EURORDIS sets out its own “concrete objectives” in its fight against the negative impact of rare diseases on the lives of patients, stressing the importance of improving access to healthcare, information, exchange of good practices and quality of life whilst also promoting research at fundamental and clinical level to develop orphan drugs and RD therapies. It urges the European Community to integrate these objectives into its new strategic framework.

This paper reminds readers of the many achievements accomplished for rare diseases over the past decade, especially in terms of the development of treatment and public awareness, tracing the Commission’s progressive approach to this since 1999, with key legislation including Orphan Drugs Regulation, FP7 priority on RD and the Community Action Programme on Public Health, in addition to the development of more specific RD policies by certain Member States at national level. It points out that the timescale is different with regard to RDs since 5-year actions are often too short for RD projects compared to those from other health sectors, due to a general shortage of information and expertise as well as a scarcity of patients themselves. With this in mind, EURORDIS advocates a two-tier approach in 1) the promotion of: national policies within Member States and increased cooperation between them, and 2) a coordinated EU action to be guided by common guidelines, guaranteeing a coherent global approach. It adds its support to the drafting of a Commission Communication and Council RD Recommendations, which it qualifies as essential in achieving this common European coherence.

Key proposals in this document are the creation of an EU High Level Group on Rare Diseases designed to help stimulate action within agreed policy guidelines and designed to serve as a monitoring body, with an assessment based on specific indicators to be determined. Another proposal is the creation of a Community Agency for Rare Diseases (CARD), intended to manage the long-term implementation of RD policies at Community level. This would oversee the perenniality and coherence of relevant EU strategies for patient registries, biobanks, clinical trials, RD information, networks of centres of reference, etc. EURORDIS develops the importance of working with other relevant policy areas and identifies the key sectors in which RDs should be taken into account.

This Contribution document concludes with a section on Global Issues, which points out that patients share the same basic needs and preoccupations worldwide. Drawing on some of the ideas already put forward in a previous EURORDIS Position Paper on a WHO Report on Priority Medicines for Europe and the World, it describes how RDs may provide useful models to help understand other, more common diseases and adds that many orphan drugs are actually innovative biotechnological products which have acted as a starting block for a number of small biotech companies. Finally, the importance of coordinated international action through bodies such as ICORD (International Coordination for Orphan Drugs and Rare Diseases) is stressed, with the conclusion that the estimated 30 million European patients living with RDs have an indisputable need for the action that the EU Health Strategy Discussion Document aims to generate.

Read the full EURORDIS Response to the Discussion Document for a Health Strategy

Read “Rare Diseases: understanding this Public Health Priority”

First Romanian Prader-Willi Syndrome Conference - 21-23 June 2007

The Romanian Prader-Willi Association (APWR) is currently busy in preparation for its first Prader-Willi syndrome Conference, due to be held this summer at Cluj-Napoca. APWR is a real success story of Romanian solidarity and determination following the demise of the late Ceausescu regime which proved so disastrous for all Romanians affected by disease and disability during the long period of the dictator's rule.

In 2005, thanks to a Dutch CCFCEE project, the association renovated a disaffected building and transformed it into a Centre for Information about Rare Genetic Diseases and set up support groups for parents with children affected by rare genetic disorders at the rehabilitation centre in Dezna (Arad County). Further achievements include residential services for youths with intellectual impairments previously abandoned by the State Welfare system and also a set of educational packages co-produced with the International Prader-Willi Syndrome Organization (IPWSO) and its German sister association, PWS, to print, translate and circulate the information for doctors, parents and 'use in a crisis'.

The Conference will be held in conjunction with the 6th IPWSO Conference. It is the first time that the International Conference is being organized in a new, emerging member country and the event will provide a vital forum for PW issues in relation with cooperative efforts to improve RD research, Networks of Centres of Reference in Europe and orphan drugs. It will also feature a Parent/Professional Conference dealing with topics such as supportive living, respite and rehabilitation programmes, weight management and growth hormone treatment.

1st Romanian Prader-Willi Syndrome & Rare Diseases Conference, Romania 21-24 June - Cluj-Napoca, Romania
Read the Programme

To read more about "Prader-Willi syndrome"

International Painful Bladder Syndrome Survey for diagnosis & treatment

The International Painful Bladder Foundation is running a questionnaire survey study for urologists and (uro) gynaecologists diagnosing and treating PBS/IC patients worldwide. The survey aims to obtain the "big picture" of the reality of the situation in specific countries around the world. The questionnaire may be downloaded from the IPBF website. It will also be circulated at the European Association of Urology (EAU) annual Congress in Berlin this month (21-24 March) at the IPBF booth, booth 44 Hall 1.1.
Replies must be sent in by 1 August 2007 at the latest.
Read the IPBF Newsletter

To read more about "Bladder pain syndrome"


Courses & Educational Initiatives
European Summer Institute in Statistical Genetics - Liège, Belgium

The Summer Institute in Statistical Genetics (3-12 September 2007) is an advanced course in statistical genetics designed for PhD students, postdoctoral fellows and senior scientists both from academia and industry.
Read more

2-day CMGS Best Practice course on the appropriate classification and reporting of unclassified variants – Manchester, UK

On 12-13 April 2007, the National Genetics Reference Laboratory (Manchester, UK) will host the 2-day CMGS Best Practice meeting on the appropriate classification and reporting of unclassified variants. This will include a joint meeting with the Dutch Society for Clinical Genetic Diagnostic Laboratories (VKGL) and will take place at the Nowgen Center in Manchester.

Download the Preliminary Conference Programme
Registration (deadline: 2 April)

8-9 May 2007 : A short course in ethics and law of genetics - Manchester, UK

This one and a half day course is aimed at clinicians and other professionals involved in the delivery of genetics services. Topics covered will include: Data Protection Act, Human Tissue Act, discrimination, duty of care and workplace testing.
More details


What's on Where?
Seminar in Research Ethics Committees as political technologies of trust - part of the Cambridge Bioethics Forum series
Date: 22 May 2007
Venue: Darwin College, Cambridge
Contact Jane Lane for more details

10th Annual Meeting of the American Society of Gene Therapy (ASGT)
Date: 30 May-3 June 2007
Venue: Washington State Convention & Trade Center, Seattle, USA
More details

European Human Genetics Conference 2007
Date: 16-19 June 2007
Venue: Nice, France
More details

International Society for Stem Cell Research (ISSCR) 5th annual meeting
Date : 17 June 2007
Venue: Cairns Convention Centre, Queensland, Australia
More details

Euro-HD Congress – European Huntington Disease Network
Date: 6-8 September 2007
Venue: Dresden, Germany
More details

6th International Myotonic Dystrophy Consortium Meeting
Date: 12-15 September, 2007
Venue: University of Milan, Italy
More details

Rare Diseases Research: Building on Success - a European Conference
Date: 13 September 2007
Venue: Charlemagne building- Brussels, Belgium
Web details to follow shortly

12th International Congress of the World Muscle Society
Date : 17-20 October 2007
Venue: Giardini Naxos, Taormina Mare (Messina), Sicily, Italy
More details

8th EPPOSI Workshop on Partnering for Rare Disease Therapy Treatment
Date: 18-19 October 2007
Venue: Copenhagen
More details

4th European Conference on Rare Diseases (ECRD 2007)
Date: 27-28 November 2007
Venue: Lisbon, Portugal
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NB: New ECRD Website going live soon - details in next Newsletter

Myology 2008: 3rd Conference on Myology
Date: 26-30 May 2008
Venue: Parc Chanot, Marseille, France
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Press & Publications
Patient Rights in the EU – Czech Republic & Denmark
European Ethical-Legal Papers no. 1 & 2
Leuven 2006
Herman Nys et al.

The Centre for Biomedical Ethics and Law of the Catholic University of Leuven in Belgium, in collaboration with the European Commission and EuroGentest has recently published two ethical-legal documents on patient rights in the EU. The Centre is already involved in a number of European research projects both as coordinator and user. These two documents are expected to form the basis for a broader series entitled “the European Ethical-Legal Papers”. The authors hope this will encourage transparency and provoke discussion and exchange of information between researchers both in Europe and further afield.

The booklets provide a user-friendly guide to the legislative framework and key patient rights with regard to each of the two countries. It points out that while both countries have signed and ratified the Biomedicine Convention applicable since December 1999 in Denmark (June 2001 in the Czech Republic), the latter Member State lacks a comprehensive legislative framework of patient rights. Its Health Care Act dates back to 1966 and despite many amendments, it has failed to keep abreast of ethical-legal developments in the way its fellow Member State Denmark has done. However, certain developments have been made in Czech society which have greatly contributed to patient rights. These include the appointment and increasing influence of the public Ombudsman whose major inquiries (into the forced sterilization of Roma women, the vaccination of minors against the will of their parents, patient rights to access and copy a personal medical file, for example) are clearly making a contribution towards the growing awareness of patients and healthcare professionals of their rights and duties towards each other. The authors express the hope that a modern legal framework for patient rights in the Czech Republic is close to becoming a reality.

Denmark’s progress in terms of the development of patient rights legislation is a far cry from that of the Czech Republic, being closer to the formalized rights of its Scandinavian neighbours. The booklet notes Danish legal recognition of the right of patients to give or refuse informed consent, as well as the rights of minors having reached the age of 15, considered to be capable of providing informed consent. It also notes the application of Danish law with regard to adult or child patients who are unable to make temporary or permanent decisions. Minors of 15 years or over may legally and autonomously access their own medical file. Medical law in Denmark regarding medical secrecy and confidentiality is also highly developed. Another interesting legal feature is the patient’s right to complain and to receive compensation: two of the most highly protected patient rights in Danish law.

Hard copy booklets may be obtained through this address: http://www.cbmer.be

Read the European Ethical-Legal Paper on the Czech Republic
Read the European Ethical-Legal Paper on Denmark

European Forum for Good Clinical Practice Report on Good Clinical Practice Principles

This EC Directive on Clinical Trials, published in 2001, has been adopted by all Member States. Based on Good Clinical Practice principles, this Directive required EU countries to establish an ethical review system for research projects that would inspire confidence in clinical research conduct across Europe. However, sponsors and academic research institutions have had great difficulty in finding out what these systems are, since they are all different. A subgroup of the EFGCP Ethics Working Party here attempts to identify what over 30 aspects of the ethical review process represents for each Member State, including Norway and Switzerland. The information has been put together into a Report that is expected to be a useful reference document for any company, academic department or contract research organization interested in performing clinical research in the European Union.

Read more and order your copy of the report by clicking on Report Order Form

A Statistical Approach to Genetic Epidemiology: Concepts and Applications
Andreas Ziegler, Inke R. Koenig
ISBN: 3-527-31252-8 - Hardcover - 361 pages
February 2006 - Wiley-VCH

This advanced textbook focuses on the relevant statistical methods applied in the field of genetic epidemiology. The book is aimed at epidemiologists, geneticists, statistics specialists, biomathematicians, and graduate students. Following a brief introduction to genetic fundamentals, the authors explain both linkage analysis and association analysis in detail. The textbook includes more than 100 problems and solutions.

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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: Kathy Beuzard-Edwards
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Editorial Board: Ségolène Aymé, Catherine Berens, Helen Dolk, Anders Fasth, Edmund Jessop, Matthieu Levi-Strauss, Jordi Llinares-Garcia, Annie Olry, Jérôme Parisse-Brassens, Claire Scharf-Kroener, Janos Sandor, Arrigo Schieppati, Rumen Stefanov, John F. Ryan, Domenica Taruscio
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