MD Briefs: Registries Are Still Open

Disease registries are seeking participants with CMD, FSHD, LGMD, MMD and Pompe disease

Article Highlights:
  • Several disease registries are open to participants with specific neuromuscular conditions, or to their family members.
by Margaret Wahl on June 7, 2013 - 11:05am

FSHD, MMD: Registry remains open

The University of Rochester Medical Center in New York state would like to remind people with facioscapulohumeral muscular dystrophy (FSHD) or myotonic muscular dystrophy (MMD, or DM), and their families, about its registry to advance research in these two disorders.

To request or download the registry forms, visit National Registry for Myotonic Dystrophy and Facioscapulohumeral Dystrophy, or call (888) 925-4302, or send an email to dystrophy_registry@urmc.rochester.edu.

This registry is funded by the U.S. National Institutes of Health. (Also see Doctors Surprised By Which Symptoms Matter Most to Adults with MMD1, FSHD.)

LGMD2I, MDC1C: Registry remains open

The Global FKRP Registry — an international, Web-based registry that collects genetic and clinical data about people with type 2I limb-girdle muscular dystrophy (LGMD2I) and type 1C congenital muscular dystrophy (MDC1C) — is inviting participation.

The registry is expected to provide useful information on the prevalence and natural history of these conditions, which are caused by mutations in the fukutin-related protein (FKRP) gene.   The registry also can help researchers locate prospective participants for clinical trials.

This registry is under the auspices of the TREAT-NMD Neuromuscular Network. (Also see Global CMD1C/LGMD2I Registry Opens.)

LGMD2A: Registry remains open

The international, online LGMD2A Patient Registry invites people with type 2A limb-girdle muscular dystrophy (LGMD2A) — caused by mutations in the calpain 3 gene — to participate.

This registry's purpose is to collect data to help determine the number of people living with LGMD2A; allow researchers to better understand the progression and manifestations of the disease; locate prospective participants for clinical trials; and help with awareness efforts.

It's under the auspices of the Coalition to Cure Calpain 3. (Also see LGMD2A Registry Seeks Participants.)

Pompe disease: Genzyme's patient registry

Genzyme’s Pompe Community — aimed at individuals and families affected by Pompe, as well as professionals involved in Pompe research or care — also contains the Pompe Registry, a patient registry that requires the participation of a physician. (Also see the Pompe Disease Registry for a description on ClinicalTrials.gov.)

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