Edition of 19 October 2005

Three projects in the broad field of rare diseases have been selected for funding following DG SANCO’s latest call for projects under the current Public Health programme (deadline 15 April 2005):

EU Primary Immunodeficiency Consensus Conference
This project, led by the International Patient Organisation for Primary Immunodeficiencies (IPOPI), is centred around a Consensus Conference on Primary Immunodeficiency (PID) involving delegates and experts from clinical immunology, PID care, public health, genetics, EU/national agencies and health ministries, academic centres, public health laboratories, professional organisations and patient groups. The outcome will be an EU PID Consensus Statement containing key recommendations and a meeting report which will set out a public health framework approach to PIDs in the EU and provide a potential public health model for other single-gene disorders.

European Myasthenia Gravis Network
The EuroMyasthenia project aims to set-up a Europe-wide Myasthenia Gravis network to improve information and knowledge about the disease, promote a better classification, optimise therapeutic strategies and support actions to reduce inequalities in care.

EuroMyasthenia will particularly focus on standardising biological, clinical and histological criteria in EU countries, identifying new biomarkers to improve diagnosis, classification and treatment of myasthenia gravis, determining the influence of psychological and socio-economical determinants in the onset and aggravation of the disease, developing a European database to serve as a basis for epidemiological studies, promoting the establishment of a specific European Card for myasthenia gravis patients and disseminating data via a web-site connected to the EU health portal.

European Autism Information System
The project’s overall objectives are to develop mechanisms for obtaining systematic, reliable and consistent data for Autism Spectrum Disorder (ASD) in Europe and to strengthen its early diagnosis.

It will address these issues by conducting an initial analysis of the current surveillance of ASD and analysing the use of different case definitions in Europe, establishing a network of professionals and stakeholders in the field of ASD, and making recommendations for a common European information system on ASD that will be validated in a pilot study.

These three projects will receive co-financing from the European Commission on condition that the negotiation procedures are successful and that the grant agreement is signed.

Gamma-S crystallin gene (CRYGS) mutation causes dominant progressive cortical cataract in humans

Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia and seizures

Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1

Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome

Dido gene expression alterations are implicated in the induction of hematological myeloid neoplasms

Primary CNS lymphoma complicating treatment of myasthenia gravis with mycophenolate mofetil

Cancer risk in hereditary nonpolyposis colorectal cancer syndrome: later age of onset

Celiac disease and risk of adverse foetal outcome: a population-based cohort study

A recent study by a team of French researchers, published in the special September 2005 issue of the Journal of Pediatrics (see below), suggests that the current strategy for neonatal cystic fibrosis (CF) screening in France, based on DNA analysis for mutations in the cystic fibrosis gene (CFTR), could usefully be replaced by a purely biological screening strategy.

The current strategy, in place since 2002, has given rise to a number of problems: the consent of both parents is often difficult to acquire; healthy carriers of a single mutation, who will not be affected by the disease but could pass it on to offspring, are also identified by the screening, necessitating provision of counselling for families; and some borderline results are difficult to interpret leading to uncertain diagnosis. In addition, DNA analysis techniques are costly.

The French study compares the genetic approach, combining DNA analysis and immunoreactive trypsinogen assay, with a purely biological approach comprising assays of immunoreactive trypsinogen and of pancreatitis-associated protein - another marker for CF. The authors argue that the biological approach is as effective as the genetic analysis, without the ethical/economic drawbacks.

The paper concludes that the biological screening approach could be of interest in countries which do not yet have a systematic screening programme for cystic fibrosis. In France, the national health insurance body, which ordered the study, is expected to announce its decision on whether or not to change the neonatal screening policy for CF in the near future.

Between July and September 2005, the US Food & Drug Administration awarded orphan designation to 18 medicinal products for the following indications: