Newly Formed Facioscapulohumeral Muscular Dystrophy Consortium Aims to Consolidate More than 13 Patient Registries in Effort to Accelerate Research on Rare Disease
BOSTON – (February 22, 2017) – Today the FSH Society, a world leader in combating facioscapulohumeral muscular dystrophy (FSHD), announced that with the FSHD Champions, an international alliance of FSHD patient advocacy organizations, a consensus has been reached to move forward with the vision of an international global FSHD patient registry. The goals of the registry will be to accelerate research to understand and treat FSHD, and empower patients to gain insights from the data about their condition and improve their health and quality of life.
Currently there are FSHD patient registries in at least 13 countries that work in isolation. While this is important to ongoing FSHD research, having data on this rare disease scattered across so many registries that work in isolation presents problems. Ideally, FSHD patient data from around the world should be collected in a single global registry or a federation of national registries that could talk to one another, so that data from as many patients as possible is gathered in a uniform way using the latest standards for diagnosing and describing the condition.
A group of registry curators worked with the FSHD Champions to organize an international workshop to discuss how to move toward this vision of a global FSHD registry. The three-day workshop in November 2016 consisted of FSHD academics, industry leaders and patient advocacy groups. Workshop attendees agreed upon an updated list of “core data elements” that all registries should collect, a questionnaire to enable patients to supply these core data elements, a genetic definition of FSHD that reflects the latest knowledge of FSHD genetics, and that FSHD registries should serve as a platform for research. The workshop concluded with the formation of the FSHD Consortium, a core group that will continue to drive this work forward and move towards the formation of a single global FSHD registry.
“Disease registries are an essential tool for advancing research to understand a disease, improve patient care and develop treatments,” said Daniel Perez, co-founder, President and CEO of the non-profit FSH Society. “Because FSHD is a rare disease, those of us who are passionate about moving research forward and finding a cure must work towards setting up a single global registry. This type of registry will take work, but it is the best way to support research and empower patients.”
Patient registries typically collect patient contact information, demographic and diagnosis data, and may also collect varying amounts of data about the health and symptoms of patients. The data is anonymized and accessible only by authorized individuals to protect the privacy of patients and families who participate. The group plans to publish the new core data elements in the journal Neuromuscular Disorders, and distribute them to all FSHD registry curators in 2017.
FSHD, one of the most prevalent types of muscular dystrophy, is a degenerative muscle disease that causes progressive weakness, usually starting with the face, shoulder, arms, legs and abdomen, but can spread to almost any skeletal muscle. FSHD affects approximately one million people, yet there is currently no treatment or cure.
For more information on the project, please contact: TBD
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About the FSH Society
The FSH Society is a world leader in combating muscular dystrophy. The non-profit has provided millions of dollars in seed grants to pioneering research worldwide, creating an international collaborative network of patients and researchers. The FSH Society seeks to serve as a source of information and support for all patients and families with FSHD; act as a driving force in the development of research directed towards treatments and ultimately a cure; and bring support to patients and research for FSHD through effective engagement of governmental and private sector organizations and entities. For eight consecutive years, the Society has received the Charity Navigator’s four-star rating, the highest distinction held by less than two percent of non-profit organizations in the country. The FSH Society offers a community of support, news and information for FSHD patients and families through its website at https://www.fshdsociety.org. For more information about FSHD, please contact the Society at 781-301-6649.
June Kinoshita: The FSH Society
Theresa Masnik: SHIFT Communications