EUCERD/EMA workshop drives forward a public-private partnership model for rare disease registries
On 4 October, stakeholders gathered at the Canary Wharf, London-based European Medicines Agency for a brainstorming session on how to best design, manage and share rare disease registries in a way that will be purposeful and satisfying for all players. Experts from academia, the biopharmaceutical industry, patient organisations, and regulatory agencies all lent their expertise to the event, which culminated in a consensus towards disease-based registries that could ultimately be shared amongst all relevant public and private partners. This consensus, shifting from the drug- or patient-based designs to a larger-encompassing disease-based model, moves forward the challenge of how to coordinate, manage and share the goldmine of data that the disease registries potentially yield.
Well constructed and managed rare disease registries can significantly speed up clinical research in the fields of rare diseases and orphan drugs, further the understanding of many elements including prevalence, natural history, and treatment outcome for rare diseases, provide regulatory bodies – including pricing and reimbursement agencies - with crucial data, serve as a resource for trial recruitment, and help patient organisations to coordinate efforts and share information.
The EUCERD/EMA workshop, organised in the context of the ongoing scientific activities of the EU Committee of Experts on Rare Diseases (EUCERD) dedicated to registries in the field of rare diseases, builds upon the Rare Diseases Task Force (RDTF) report, Patient registries in the field of rare diseases, based on outcomes of the 2008 RDTF workshop on this field, updated in 2011, as well as the report in preparation on Creation of a mechanism for the exchange of knowledge between Member States and European authorities on the clinical added-value of orphan drugs (CAVOD) and the Orphanet Report Series Disease registries in Europe.
Future meetings already being planned will tackle the complex questions of how to protect important privacy rights for industry, academic and patient registry partners, how to manage post-marketing authorisation data for orphan drugs, how to coordinate at an international level, and harmonisation between registries. The EpiRare project (European Platform for Rare Disease Registries) launched in April 2011, seeks to gather more information on the needs of stakeholders, while the International Rare Disease Research Consortium brings to the table the international perspective, expectations and experience. Yes, there is much to be done, but the EUCERD/EMA workshop took a big step forward on 4 October.
In Italy’s Marches region, the Santa Croce di Fano hospital plans to drastically increase its newborn screening progamme to encompass some 50 rare metabolic diseases using tandem mass spectrometry. The increased programme is expected to get under way by the middle of next year. Some – though not all - of the disorders included in the expanded screening can be treated or limited if recognised in time. Presently, the Santa Croce di Fano hospital performs routine screening for only three disorders: phenylketonuria, congenital hypothyroidism and cystic fibrosis, conditions improved by early intervention. Some 14 thousand newborns are screened annually at the hospital. 
The United Kingdom’s first brain tumour tissue bank, housed in Southern General Hospital in Glasgow, Scotland, will provide a large number of samples to researchers, with the goal of accelerating research toward treating this group of rare diseases. In a press release, University of Glasgow Chair of Clinical Oncology Prof Anthony Chalmers observed that “Everyone’s brain tumour is different, and the tissue bank is an important step on the way to understanding the challenges and possibilities of personalised medicine to treat individual cancers”. The new tissue bank, available to researchers from academia and industry, was made possible by funding from brain cancer charity brainstrust, as well as the efforts of volunteer Anita Smith, whose own daughter Charlotte died in 2008 at age 16 from an aggressive brain tumour. The new tissue repository is named Charlotte’s Bank of Hope. 
According to several news reports, Egypt has created the world’s largest newborn screening laboratory, developed via a collaboration between the Egyptian Health Ministry and PerkinElmer. Newborn screening for congenital hypothyroidism is to be administered free of charge in Egypt. It is anticipated that some 96 percent of babies born in the country will be screened for the rare thyroid hormone deficiency.
In the USA, the March of Dimes, the National Coalition for Health Professional Education in Genetics, Genetic Alliance, and Massachusetts General Hospital have joined forces to test a computerised tool that records family history data, in a bid to improve screening for inherited conditions as well as preterm birth and miscarriage. The new electronic tool is designed to help health professionals assess risks during pregnancy by examining both personal and family health history. While enquiring into family health background is nothing new, the tool brings to the procedure an electronic examination of recorded data that provides “…red flags and recommendations for health care providers based on current professional guidelines. On the basis of this information, health care providers may be prompted to ask the patient more questions, or refer her to a genetic specialist”. The new tool builds upon the freely-available 
