11 April 2007 print
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Orphanet’s European Commission RD Portal contract renewed for 3 years

The Orphanet EC contract* with DG Public Health is renewed from 1 April 2007 for a period of 3 years. Total EC funding of €960,000 towards a global budget of €2 674,911 will be shared by 21 of Orphanet's partners from mainly European countries. These funds will contribute towards Orphanet's mission of providing accessible, free information to users Europe-wide, to include concrete objectives. During the course of this contract, the data collection on expert services is expected to expand from 22 countries to 35. Basic information will be provided about all rare disorders (2,000 currently) and many new features will be included in the database and the website. The classifications of rare diseases will be included, making it possible to query the database by broad categories of diseases and even by medical specialty. The orphan drugs database will be totally restructured to give visibility to the drug's stage of development from designation as an orphan drug up to availability on the EU market. The new website will integrate the AAA disabled access classification and will look more like a portal to provide a direct access to all the services already developed by Orphanet. These services are expected to improve the accessibility of available information and provide all European citizens with validated information about rare diseases and specialised RD services in Europe and beyond.

Consult the list of Orphanet partners

* EC Contract no. 2006 119

Deadline for submissions

We welcome your contributions to OrphaNews Europe.
Please send your ideas for articles by contacting the editor here.

The next edition will appear on 2 May.
Deadline for the next edition is
23 April 2007.


EU Policy News
European Parliament vote on the Review of Medical Device Directives gets the thumbs-up from Eucomed

Last month’s positive vote following the Council, Commission and Parliament’s agreement on outstanding issues in product labelling, classification and transparency in European medical device technology, has been welcomed from all quarters. The key document involved, known as the Ulmer report on the review of Medical Device Directives, has notably received a warm response from Eucomed, the European Medical Technology Industry Association. Representing 4,500 designers, manufacturers and suppliers in this medical technology sector, Eucomed also accounts for a 7 billion investment in Europe-wide R&D. It believes that the revised text resulting from this vote will enhance patient protection without hampering medical progress and innovation.

Eucomed’s mission is to improve patient and clinician access to modern, innovative and reliable medical technology. It is expected that guidance documents and secondary legislation will now have to be developed to ensure the satisfactory implementation of new provisions. Evaluation of the impact on patient safety of “single use” reprocessed products is also urgently required. A 5-point action campaign has been identified, to include the following targets:

1. Guidance to notified bodies for the application of the new class IIa requirements such as hearing aids, blood filters, etc.
2. Secondary legislation to enable the use of alternative means (CD Rom, website, etc.) for instructions for use delivery
3. Amendment of the relevant directives to cover all products containing human derived cells and tissues (an Expert Group will be set up for this purpose)
4. Creation of a Working Group to evaluate impact on patient health and safety regarding reprocessed “single use” medical devices.
5.Finally, a review of the clinical investigations guidelines will be made.

Read the Ulmer Report

Consult the European Commission’s Medical Devices website


National & International Policy Developments
Other European news
Rare Disease information card scheme in France reaches its second stage

As part of the French “Rare Disease 2005-2008” national plan information strand, aiming at the development of accessible information for healthcare professionals, patients and the general public, the French Health Ministry has produced 8 new rare disease information cards. These will target patients with narcolepsy, sickle cell anaemia (drepanocytosis), Willebrand disease, Glucose-6-Phosphate Dehyrogenase deficiency, amyotrophic lateral sclerosis (ALS), Steinert disease, myasthenia and Fabry disease.

This is the second series of rare disease information cards to be produced, following an initial series of 6 produced and distributed in June 2006. The cards are small enough to fit into a wallet and come with a plastic sheath for easy use. The information contained within is strictly confidential and protected by medical secrecy laws. It includes a section on specific healthcare recommendations for each rare disease. These new cards will be distributed similarly by the relevant rare disease centres of reference in France and offered to patients by healthcare professionals, in collaboration with the patients’ organisations.

Visit the Orphanet dedicated website (in French only).

A new Belgian website on rare diseases
This new Belgian website provides useful information on rare diseases and orphan drugs in Belgium, along with links to official documents and press releases.

Visit the website (in French & Dutch only)

Useful website: The Council for Responsible Genetics

The Council for Responsible Genetics aims to stimulate public debate about the social, ethical and environmental implications of genetic technologies. The Council works through the media and interested citizens to distribute accurate information as well as representing the public interest on emerging biotechnology issues. Founded in 1983, CRG is a non-profit, non- governmental organization based in Massachusetts, USA.


Ethical, Legal & Social Issues
Ratification of the World UNO Disabilities Convention amidst calls for follow-up action
In three years the Universal Convention on the Rights of Persons with Disabilities has come a long way. A record number of countries signed the UN treaty on disabilities on its opening day, 30th March in New York. The UN Deputy Secretary-General, Asha-Rose Migiro made a speech at the opening for signature, calling for follow-up action and "vigorous implementation and oversight at the national and local levels."
Read the full speech by the UN Deputy Secretary General


EU Project Follow-up
TargetScreen2: innovative research in post-genomics with a high potential for therapeutic application
The recently funded project, TargetScreen2, aimed at developing treatments for associated cell membrane proteins disorders, held its official kick-off meeting last month in Lisbon, Portugal. The project, which started officially on 1 March 2007, involves an international consortium with representations from: Faculty of Sciences of the University of Lisbon (Portugal); EMBL - European Molecular Biology Laboratory (Heidelberg, Germany); University of Regensburg (Germany); University of Leeds (UK); EcBio - Investigação e Desenvolvimento em Biotecnologia, SA (Oeiras, Portugal); Sygnature Chemical Services Limited (Nottingham, UK); Dualsystems Biotech AG (Zurich, Switzerland); and OSIS - Olympus Soft Imaging Solutions (Planegg, Germany).

This trans-national group of partners from academia and industry (SMEs), TargetScreen2 aims to develop cutting-edge post-genomics functional cell-based approaches to identify novel compounds of high therapeutic potential which correct defective traffic and/or functioning of 3 model membrane proteins (MC4R, ENaC and CFTR) involved in human disorders.

Rather than using transcriptomic or proteomic post-genomic approaches, which usually deliver long lists of candidate genes that may only be remotely associated with the respective disease, TargetScreen2 takes the next post-genomic challenge towards the understanding of biological processes in health and disease. This is an elucidation of protein function at a genome-wide scale. Membrane proteins were selected as the focus of research because, they represent some of the largest families encoded by the human genome (including receptors, channels, antibodies, transporters, etc). Accordingly, membrane proteins are involved in many important cellular mechanisms, such as communication, immunity, signalling and response to environmental stimuli and play major roles in cells and organisms, both in physiological and pathological states.

As a proof-of-concept, TargetScreen2 will apply these innovative bench-to-bedside approaches to deliver novel small molecules, tested to preclinical stage to correct defects of traffic/function of the above 3 model membrane proteins and of ultimate therapeutic potential to a rare disease such as cystic fibrosis and many others.

The European Myasthenia Gravis Network produces its interim report for 2006
The European Myasthenia Gravis Network was created a few years ago with the support of the AFM (French association against myopathies). It has since been developed to establish the necessary background for developing a sustainable coordination in the area of health information, collection of epidemio-logical data, exchange of data and information within and between Member States. Funded in 2005, the EuroMyasthenia project will essentially cover acquired MG, although hereditary MG patients could be integrated later. Its main objectives cover the following target areas:

1. Health Information, including health leaflets for patients, a website and electronic newsletter. Referral laboratories are being established and experts will provide professional assistance and information throughout the European Community.
2. European database. EuroMyasthenia will result in the creation of a European database that will collect data from a large part of Europe and thus permit epidemiological studies. Health indicators recommended by the ECHI-2 network and relevant to MG will be also included. At least 5,000 patients from the European countries involved in the network will be included.
3. Epidemiological data collection. Epidemiological studies will be performed to monitor occurrence of the different forms of MG for individual countries and to identify new markers associated with disease pathogenic mechanisms. In turn, a list of recommended indicators will be established for the surveillance of Myasthenia Gravis in the member states and accession countries.
4. Standardization and Quality Assessment. European Guidelines for diagnosis and clinical management of MG are being prepared. A quality control system for laboratory diagnosis of the different forms of MG is being established. Educational and training visits in the expert centers, scientific and medical personnel are to improve healthcare quality.

Read the European Myasthenia Gravis Network Interim Report
Contact Dr. Sonia Berrih-Aknin


Orphanet News
Orphanet's 10th anniversary celebration now has its own dedicated website!

For its 10th birthday, Orphanet has given itself a present : a new 10th Anniversary dedicated website giving all the relative information about this event held on 15 February this year at the French Ministry for Health in Paris.

The French version includes a full report, speeches by the chief speakers, including the French Health Minister, and photos whilst the English version, which will soon be complete, already features a summary of events, Orphanet’s complete presentations and photos of the event’s highlights.

Enjoy your visit of the 10th anniversary dedicated website!

New Texts
New Orphanet Journal of Rare Diseases publications
Inborn errors in the metabolism of glutathione (Review)

Amelogenesis imperfecta (Review)

Cirrhotic cardiomyopathy

New Research Projects open for Recruitment
A Turkish international multicentric trial
A new centre has opened in Turkey for an international multicentric trial for Adult Patients with Imatinib-Resistant or Intolerant Chronic Myeloid Leukemia
A Belgian national monocentric trial with the orphan drug Nexavar
A Belgian national monocentric trial with the orphan drug Nexavar - currently recruiting

New Syndromes
Macrocephaly, immune deficiency and anaemia

Two patients described by Turkish researchers were affected by macrocephaly, immune deficiency and anemia. One of them was also affected by periventricular white matter lesions whilst the other had a myelinisation delay in the same region.

Clinical Dysmorphology ; 16(2):81-4 ; April 2007
A familial form of a coronary artery disease implies the Wnt signaling pathway

American researchers describe a family affected by early coronary disease which is transmitted in an autosomal dominant way and associated with a metabolic syndrome and osteoporosis. These clinical signs, frequently found in a population, have for the first time been associated with the transmission of a missense mutation. This affects a highly conserved residue of the LRP6 gene , encoding a co-receptor in the Wnt signaling pathway, and impairs the in vitro Wnt signaling pathway.

Science ; 315(5816):1278-82 ; 2 Mar 2007

New Genes
Coenzyme Q10 deficiency could be due to PDSS1 gene mutations

Coenzyme Q10 deficiency is a heterogeneous recessive autosomal mitochondrial disease. French researchers have identified a mutation in the PDSSl gene in a family affected by deafness, encephaloneuropathy, obesity, livedo reticularis and valvulopathy. PDSSl encodes the subunit 1 of the prenyldiphosphate synthase necessary for the biosynthesis of the Q10 Coenzyme. To date, alterations have been identified in 3 genes have been identified that encode enzymes implicated in this biosynthesis pathway.

To read more about "Coenzyme Q 10 (CoQ10), deficiency"

Journal of Clinical Investigation ; 117(3):765-772 ; 1 Mar 2007
A mutation in the GATA1 transcription factor is the cause of congenital erythropoietic porphyria

Congenital erythropoietic porphyria is an autosomal recessive disorder caused by a uroporphyrinogen III synthase deficiency (UROS). The resulting excess of uroporphyrin I provokes severe cutaneous photosensibility. American researchers identified a mutation in the gene encoding the transcription GATA1 factor in a 3-year-old boy. In erythrocytes, this regulates the transcription of globin genes and enzymes involved in heme biosynthesis. This is the first gene the product of which is a transcriptional transactivator to be implicated in porphyria.

To read more about "Porphyria"

Blood ; 109(6):2618-21 ; 15 Mar 2007
INI1 : a new predisposing gene in multiple schwannoma development

Schwannomatosis is characterised by the development of multiple schwannoma in the spinal, peripheric or cranian nerves in the absence of vestibular schwannoma. Hulsebos et al. have identified a germinal mutation in the INI1/SMARCB1 tumour suppressor in a father and his daughter. Among the four schwannomas analysed, researchers observed a total loss in the nuclear INI1 expression in part of the cells and a loss of INI1heterozygocity in 2 of the tumours. Mutations of other exons of the INI1 gene are already known to be involved in the development of rhabdoid tumours, suggesting the existence of a correlation between the type of tumour and the localisation of the mutations.

To read more about "Neurofibromatosis type 2"

Am J Hum Genet. ; 80(4):805-10 ; April 2007
A new gene in the SIX family involved in the BOR syndrome

The BOR syndrome is a autosomal recessive disorder which associates branchial arch defects, fistulas or cysts), auditive anomalies (malformation of the ear pavillion with preauricular pits, hearing loss) and renal anomalies. Mutations in the EYA1 and SIX1 genes, the products of which belong to the same complex activating gene transcription, have already been identified. Recently, researchers have shown that the unc-39 protein, the SIX5 human orthologue, also interacts with eya1 in C. elegans. Hoskins et al. have researched the presence of mutations in SIX5 in 95 patients affected by the BOR syndrome. They have identified 4 heterozygous mutations in 5 patients. They all affect the activating transcriptional capacity of SIX5 or of the SIX5-EYA1 complex.

To read more about "BOR syndrome"

Am J Hum Genet. ; (4):800-4 ; April 2007
The loss of the N-terminal extremity of the filamin A explains the chronic idiopathic intestinal pseudo-obstructions

The chronic idiopathic intestinal pseudo-obstruction is a heterogeneous group of enteric neuromuscular diseases in which the intestinal walls are incapable of contracting normally. The disease is transmitted by the Xp28 locus. By studying the expression of the 56 genes of this locus and sequencing 7 of them, Italian researchers have identified a deletion of 2 pairs of bases in the filamin A gene. The reading frame shift occurs between 2 codons encoding methionins situated at the N-terminal extremity of the protein. The loss of function in filamin A is usually associated with neuronal heterotopias. By expressing the deleted filamin A in cultured cells, researchers have shown that the translation of the protein is initiated at the second methionine. This produces a protein which is truncated from its N-terminal extremity. This extremity therefore appears to be essential to the development of the enteric neurones and the initiation at the second methionine explains the particularity of the phenotype associated with this mutation of filamin A.

To read more about "Intestinal pseudoobstruction chronic idiopathic"

Am J Hum Genet. ; 80(4):751-8 ; April 2007

Research in Action
Fundamental Research
A human phenome-interactome network makes it possible to associate proteic complex with genetic disorders

Danish researchers have produced a large-scale in silico study making it possible to identify 506 protein complexes associated with genetic disorders, thereby establishing a phenome-interactome network. They have developed a prediction algorithm able to identify the gene responsible for the disease in half of the linkage intervals tested. These data, which have been made available to the scientific community, represent a major new gene resource potentially useful for the identification of candidate genes within a linkage interval.

Nat Biotechnol. ; 309-16 ; Mar 2007
A sodium channel open at rest explains the dominant transmission in hypokaliemic periodic paralysis

Hypokaliemic periodic paralysis is a genetic disorder with a dominant autosomal transmission which manifests by muscular paralysis accesses of variable duration (a few hours to 24-48 hours), accompanied by a drop in the potassium level in the blood. American researchers have studied the effect of three mutations in the alpha sub-unit of a sodium channel of the skeletal muscles which might cause the development of the disease. These mutations lead to the expression of a channel that is permeable to sodium ions when the membrane is resting, and which closes down after depolarisation. This gain of function explains the dominant transmission of the disease’s characteristics, ie. membrane depolarisation, loss of control of the action potential by the sodium channels and flaccid paralysis.

To read more about "Hypokalemic periodic paralysis"

Nature ; 446(7131):76-8 ; 1 Mar 2007
Clinical Research
A West’s syndrome animal model is obtained by pharmacological treatment

West’s syndrome or infantile spasms, associate bursts of axial spasms in newborns with a psycho-sensorial deterioration. Standard anti-epileptic treatment has no effect on these children however the search for new therapies cannot take place since there does not exist an animal model for the disease. By treating rats from the 15th day of gestation by the glucocorticoid betamethasone and administering NMDA from birth up until the age of 15 days, American researchers have identified an animal model whose characteristics are close to the phenotype observed in newborns affected by West’s syndrome.

To read more about "West syndrome"

Ann Neurol. ; 61(2):109-19 ; Feb 2007
X-chromosome origin influences kidney, ocular and metabolic development in Turner syndrome

Turner syndrome is caused by the total or partial absence of X-chromosome. There exists a very large phenotypical variation, however two signs are very frequent: short stature and gonadic dysgenesis. Previous studies suggest that the parental origin of the X-chromosome has an influence on the phenotype developed by the patients, notably with regard to social behaviour. Sagi et al. have studied the parental origin of X-chromosome in 83 patients. They associated the transmission of the maternal chromosome with the presence of renal malformations. Paternal chromosome is more frequently associated with hypercholesterolemia and ocular anomalies.

To read more about "Turner syndrome"

Journal of Clinical Investigation ; 92(3):846-852 ; Mar 2007
Different phenotypes are associated with variable aromatase insufficiency

Aromatase insufficiency, an enzyme which synthesizes estrogens from androgens, results in an abnormally high level of androgens and an estrogen deficiency. In girls a sexual ambiguity can be observed, in addition to a total lack of puberty. In 4 female patients with different levels of androgenisation, Lin et al. have identified different mutations of the gene encoding aromatase and have observed that one of them makes residual activity of the enzyme possible, causing limited breast development in puberty.

To read more about "Aromatase deficiency"

J Clin Endocrinol Metab. ; 92(3):982-90 ; Mar 2007
Common risk factors between a nephropathy and the haemolytic uraemic syndrome

Haemolytic uraemic syndrome is characterised by renal deficiency, thrombocytopenia and hemolytic microangiopathic anaemia. Mutations affecting the control of the alternative pathway of the complement represent a risk factor in the syndrome’s development. In rare cases, the syndrome may be associated with nephropathies characterised by C3 factor deposits, one of the factors of this alternative pathway. French researchers have looked for the presence of mutations in genes whose products regulate the alternative pathway of the complement (H factor, I factor and MCP) in 19 patients with nephropathies with C3 deposits but no clinical signs of haemolytic uraemic syndrome. They have thereby established that this syndrome and nephropathies with C3 deposits share common risk factors.

To read more about "Hemolytic uremic syndrome, atypical form"

J Med Genet. ; 44(3):193-9 ; Mar 2007
Epidermolysis bullosa : genotype-phenotype correlation between dystrophic forms

Dystrophic epidermolysis bullosa is a group of bullous disorders in which blistering disorders and erosions form either spontaneously, or following minor trauma. Autosomal dominant and autosomal recessive inheritance have been described for the dystrophic form. They are due to mutations in the COL7A1 gene encoding type VII collagen, which is an essential protein for anchoring fibrils at the dermal-epidermal junction. American researchers have sequenced the COL7A1 gene in 1000 families with epidermolysis bullosa 332 of which present a dystrophic form. This study enabled them to etablish a correlation between the genotype (355 mutant alleles indexed) and the patients’ phenotype, thereby improving the existing classification. These results have direct consequences on the prenatal diagnosis and genetic counselling offered to families at risk for recurrence.

To read more about "Epidermolysis bullosa, dystrophic"

J Med Genet. ; 44(3):181-92 ; Mar 2007
The SV40 virus, contrary to asbestos, is not associated with mesothelioma developments

Asbestos is the main cause of developing mesothelioma, a pleural cancer which is lethal in most cases. Traces of DNA from the SV40 virus were detected in a large number of cases. Between 1955 and 1963, a potential oncogen, SV40, was introduced in different European populations by vaccinating against poliomyelitis. Due to a retrospective study, Leithner et al. have established that neither the SV40 virus, nor the exposure to the vaccination against poliomyelitis were associated with the development of a mesothelioma. However, their study confirms the link between an exposure to asbestos 25-30 years before the onslaught of pleural cancer.

Read the article published in the Orphanet Journal of Rare Diseases.

To read more about "Mesothelioma"

Orphanet Journal of Rare Diseases ; 1:44 ; 2006
Stem Cells
Umbilical cells restore vision to rats with photoreceptor degeneration

Photoreceptor degeneration is observed in patients affected with various neurodegenerative disorders, such as retinitis pigmentosa. Lund et al. tested the capacity of 3 different types of stem cells to reduce the progression of the degenerative process in rodent models of this type of disorder. The cells obtained from the umbilical cord showed the best results: a reduction in the functional deterioration associated with a photoreceptor restoration over a large area. The development of a therapy based on the use of umbilical cells therefore represents a possibility for future treatment.

Stem Cells ; 25(3):602-11 ; Mar 2007
A new partnership between UK & US national stem cell banks

The national stem cell banks in the UK and US have recently announced their intention to form a partnership to promote research, create international standards and distribute their respective cells more efficiently. The British bank was created in 2004 and financed by the UK Government as a repository for stem cells derived from embryos and adults. Its American counterpart was created a year later at the WiCell Research Institute, a not-for-profit organization connected to the University of Wisconsin.

Gene Therapy
Retina defects in a mouse model for Usher syndrome are corrected by a lentiviral vector expressing MYO7A

Usher syndrome is an autosomal recessive disorder associating pigmentary retinitis and hearing impairment. Mutations in the MYO7A gene encoding the myosin VIIa is responsible for forms of the 1B type. American researchers used a lentiviral-based gene replacement therapy to restore the expression of the myosin VIIa in the retinas of MYO7A-null mice. They observed a correction in the retina defects demonstrating that this strategy enables the expression of a large gene and suggesting the feasibility of this type of therapeutic approach.

To read more about "Usher syndrome"

Gene Ther. ; 14(7):584-94 ; Apr 2007
Therapeutic Approaches
A GABA antagonist improves the cognitive functions of the Down syndrome mouse model

Down syndrome model mice manifest declarative learning and memory deficits and abnormally high doses of GABA in the dentate gyrus, thereby provoking excessive inhibition in this part of the brain. Fernandez et al. administered picrotoxin, a GABAA antagonist, to these mice and observed an improvement in defective cognition associated with the reestablishment of the long-term potentiation. These results suggest that the excessive inhibition could be involved in the intellectual deficiency of patients with Down syndrome and that the use of the GABA antagonist could become a new therapeutic approach.

To read more about "Trisomy 21"

Nat Neurosci. ; 25 Feb 2007
A histone deacetylase inhibitor improves survival of spinal muscular atrophy model mice

Spinal muscular atrophy is a neuromuscular disease characterised by motor neuron degeneration in the anterior horn of the spinal cord, responsible for muscular deficiency associated with atrophy. These are due to deletions or, even more rare, missense mutations of the SMN1 gene, which encodes a small ribonuclear protein. All patients possess at least a copy of its centromeric homologue SMN2 that encodes a protein which is very close, functional but unstable. Avila et al. administered trichostatin A, an inhibitor of histone deacetylase, to disease transgenic model mice. They observed a slight increase in the level of SMN2 expression in the neuronal and muscular tissues as well as a better assembly of small ribonuclear proteins. In addition, the treatment improves the lifetime, weight gain and motricity of mice.

To read more about "Proximal spinal muscular atrophy (generic term)"

Journal of Clinical Investigation ; 117(3):659-71 ; Mar 2007
Dystrophic Epidermolysis Bullosa (DEB): a green tea derivative protects the dermo-epidermic junction from matrylisin activity

In dystrophic epidermolysis bullosa, it is possible to observe an intrafamilial and interfamilial phenotypical variability even for the same mutation of the COL7A1 gene. Consequently, other genetic or environmental factors probably module the expressivity of the disease. COL7A1 encodes the 7A type collagen, which is implicated in the dermo-epidermic junction. French researchers have analysed the role of matrylisin 1, a metalloproteinase expressed in the skin. They showed that it is expressed in the skin of 3 patients with a recessive form of DEB and that, ex vivo, it degrades the type 7 collagen and the fibrillin 1. It could therefore play an active role in the dermoepidermic detachment that affects the patients. Furthermore, they tested the EGCG, a mixture of green tea known for inhibiting the matrylisin in vitro activity, and confirm ex vivo this result, suggesting it could be protective on type 7 collagen and fibrillin 1. The authors suggest that this compound could be beneficial to patients suffering from DEB.

To read more about "Epidermolysis bullosa, dystrophic"

J Invest Dermatol. ; 127(4):821-8 ; April 2007
ASC-J9 reduces muscular atrophy in Kennedy disease model mice

Kennedy disease is a spinal and bulbar muscular atrophy in which the degeneration of motor neurons causes weakness and muscular atrophy. This degeneration is due to the agregation of the androgen receptor following an expansion of glutamin repetitions. Yang et al. have shown in vitro that the 5-hydroxy-1,7-bis (3,4-dimethoxyphenyl)- 1,4,6-heptatrien-3-one (ASC-J9) increases the cellular survival in inhibiting the interactions between the muted receptor to the androgens and its coregulators as well as reducing its nuclear aggregation and increasing its degradation. In addition, the intraperitoneal injection of ASC-J9 in model mice of the disease reduces the muscular atrophy

To read more about "Kennedy disease"

Nat Med. ; 13(3):348-353 ; Mar 2007

Patient Management and Therapy
Overexposure to cortisol increases the mortality of patients treated surgically for Cushing’s disease

Cushing’s disease is characterised by a pituitary macroadenoma with a hypersecretion of corticotrophin. The ablation of the tumours is associated with a high mortality rate. Dekkers et al. compared the mortality of 248 patients operated for pituitary macroadenoma with or without corticotrophin hypersecretion. They observed an increased mortality in patients with Cushing’s disease, suggesting that the over-exposure to cortisol might explain this observation.

To read more about "Cushing syndrome"

J Clin Endocrinol Metab. ; 92(3):976-81 ; Mar 2007
Earlier treatment of congenital hypothyroidism does not improve cognitive and motor deficiency

Congenital hypothyroidism with a prevalence of 1 in 3,500 newborns, is the chief cause of intellectual deficiency which can be avoided by T4 thyroid hormone supplementation. A study on the treatment of Dutch newborns between 1981 and 1982 has revealed that after a treatment initiated at the 28th day, persisting motor and cognitive deficits were possible when adulthood is reached. Kempers et al. compared these observations with those carried out on 82 patients treated a supplementation initiated 20 days after birth between 1992 and 1993 and observed no improvement of the persisting deficiencies.

To read more about "Hypothyroidism, congenital"

J Clin Endocrinol Metab. ; 92(3):919-924 ; Mar 2007
Delayed growth is due to IGF-I deficit can be treated by the administration of recombinant human IGF-I

IGF-I deficiency provokes a severe growth delay and growth hormone insensitivity. In this study, 76 patients were treated over a 12-year period by recombinant human IGF-I. Chernausek et al. observed a linear growth increase in children. Secondary effects were also described however their severity did not appear sufficient to justify modifying or interrupting the treatment.

To read more about "Growth delay due to insulin-like growth factor I deficiency"

J Clin Endocrinol Metab. ; 92(3):902-910 ; Mar 2007

Orphan Drugs
Addmedica has acquired the rights to Siklos®

Addmedica SAS has bought up the rights to the pharmaceutical speciality Siklos®, currently under development for the treatment of sickle cell disease. The molecule was awarded an orphan designation in July 2003 by the EMEA for this indication, which gave market exclusivity for 10 years in EU member states. Addmedica hopes to obtain the marketing authorisation for the product between now and the end of this year.

To read more about "Sickle cell anaemia"

FDA orphan drug approval obtained by a Spanish pharmaceuticals company

The Barcelona-based company, Thrombotargets Europe, part of the biotech company, Thrombotargets Group, which has also recently inaugurated new facilities in Madrid, has received an orphan drug designation from the FDA for its TT-103 procoagulant agent. This product can be used in the treatment of mild-to-severe cutaneous bleeding episodes in haemophilia.

FDA marketing approval for Ceprotin®

The FDA has given its marketing approval to Ceprotin®, a protein C human plasma concentrate, for substitute treatment of severe congenital protein C deficiency in patients with coagulation difficulties. Ceprotin®, which already has European marketing authorisation, is the first treatment to be approved by the FDA for patients with this condition, and is indicated for the prevention and treatment of veinous thrombosis and purpura fulminans. This substitute treatment using protein C is indicated in adults and children.

Read the FDA orphan drug designation listing


Research funding from the Angelman Syndrome Foundation

The US Angelman Syndrome Foundation has announced international research funds totalling 400 000$ to support research projects covering the pathogenesis, therapy and best practices in Angelman syndrome education.

Deadline for applications: 15 June 2007
All enquiries should be sent to Joseph Wagstaff.

French Friedrich's Ataxia Association is awarding research grants

The French Friedrich's Ataxia Association (AFAF) is offering grants in 2007 designed to stimulate research on the disease. These grants, totalling €100,000 and open to Europeans, will be given to PhD students annually (€18,000) and post-doctoral researchers (€22,000). They will be awarded for 1,2 or 3 years depending on the project.

Application deadline: 30 April 2007

Read more about the AFAF grants

The Fondation Motrice is awarding grants for cerebral palsy research

The Fondation Motrice based in France is awarding funds of €5 000-80 000 to applied or technological fundamental research projects leading to advances in understanding, prevention and rehabilitation therapies in cerebral palsy. European-level projects including preferably at least one French team, are strongly encouraged in the following fields:

- Epidemiology, quality of life
- Cerebral plasticity
- Animal models
- Evaluation of drug-related and rehabilitational therapies
- Technological research, robotics, domotics, bio prostheses

Deadline for applications: 22 May 2007
Read more about the Foundation.


What's on Where?
The Rare Disease Calendar of Events
Consult the complete Events List for all events announced in OrphaNews Europe.
1st National Conference of People with Rare Diseases
Date: 14 April 2007
Venue: Sofia, Bulgaria
More details

1st Canadian Conference on Rare Diseases & Orphan Products Policy (organised by CORD)
Date: 24-25 April 2007
Venue: Ottawa, Canada
More details

European Public Health Research Information Day
Date: 25 April 2007 (Attention - Registration deadline: 11 April !!)
Venue: Charlemagne Building, European Commission, Brussels, Belgium
More details

7th International Conference on Hereditary Hemorrhagic Telangiectasia (HHT)
Date: 25-28 April 2007
Venue: Capri, Italy
More details

12th European Neurofibromatosis (NF) Meeting: Science & Welfare, the Facts
Date: 26-29 April 2007
Venue: Lisbon, Portugal
More details

EURORDIS European Workshop: Gaining Access to Rare Disease Research Resources
Date: 4-5 May 2007
Venue: Institut Pasteur, Paris, France
More details

GeNeMove Symposium Hereditary Movement Disorders: genetics pathogenesis – treatment
Date: 10-12 May 2007
Venue: Bonn, Germany
More details

European Haemophilia Consortium Conference: building a network for haemophilia care
Date: 18-20 May 2007
Venue: Parma, Italy
More details

International MPS Network Conference
Date :24-27 May 2007
Venue : Serock, near Warsaw, Poland
More details

Eurochromnet Meeting
Date: 1-3 June
Venue: Copenhagen – Oslo Ferry cruise
More details

3rd AAL Aicardi Syndrome Conference
15-17 June 2007
Nancy, France
More details

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

8th EPPOSI Partnering Workshop on Orphan Drugs
Date: 18-19 October 2007
Venue: Copenhagen
More details will follow shortly

4th European Conference on Rare Diseases (ECRD 2007)
Date: 27-28 November 2007
Venue: Lisbon, Portugal
More details
New ECRD Website under construction: check regularly for updates


Press & Publications
Guide to safety and quality assurance for the transplantation of organs, tissues and cells - 3rd edition (2007)
Publisher : Council of Europe Publishing
Price : € 15, 118 pages

This 3rd edition of the Guide – edited on a biennial basis – is applicable to the transplantation of organs, tissues and human origin cells for therapeutic ends. It aims to provide guidance for all people working in this field in order to guarantee the best possible quality of organs, tissues and cells. It includes safety standards and quality assurance for collecting, conserving, treating and distributing human organs, tissues and cells (allogenic and autologous) used for transplantation purposes.

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Ethical, Legal and Social Dimensions of Epilepsy Genetics (free access)
Authors: Sara Shostak and Ruth Ottman
Publishers: NIH Public Access / Epilepsia. 2006 October ; 47(10): 1595–1602

A review of the emerging genetic and social dimensions of epilepsy that are essential in understanding the complexities of epilepsy genetics. The authors conclude that research is required on the ethical, legal and social concerns raised by genetic research on epilepsy and the developing field of genetic testing. Research to include the perspectives of patients with epilepsy and their family members, as well as those of healthcare professionals, policymakers and bioethicists.
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Rights and Liberties in the Biotech Age: Why We Need a Genetic Bill of Rights
Editors: Sheldon Krimsky and Peter Shorett
Publishers:Rowman & Littlefield
Price:$26.95 + p&p

This book argues for a set of principles to protect individual liberties and community interests against both the misuse and neglectful use of genetic technology. Building on the notion of a Genetic Bill of Rights, two dozen leading scientists, scholars, and public interest advocates examine the challenges faced in governing the future of genetics.
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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
For more information on the Rare Diseases Task Force
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