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$3M Dysferlinopathy Study Exceeds Patient Recruitment Goal

NEW YORK (GenomeWeb News) – A clinical study targeting dysferlinopathy expected to cost $3 million has exceeded its patient recruitment goal, the Jain Foundation, which is funding the study, said today.

The Clinical Outcome Study for Dysferlinopathy has recruited 193 patients, passing the original goal of 150. The three-year project is being conducted in 14 centers and is led by Kate Bushby at Newcastle University and Laura Rufibach at the Jain Foundation.

Its aim is to support development of a therapy for dysferlinopathy by making it possible to test the effectiveness of potential drugs and interventions, Rufibach said.

Also called limb-girdle muscular dystrophy type 2B, or Miyoshi myopathy, dysferlinopathy is a genetic disease that causes progressive muscle weakness.

"Because the normal disease progression has not yet been defined, the main goal of the [study] is to measure disease progression in patients at all phases of the disease and to identify tests that can be used in clinical trials," Rufibach said in a statement.

The study centers participating in the research are located in the US, UK, Japan, Australia, Germany, France, Spain, and Italy.

A spokesperson for the Jain Foundation told GenomeWeb Daily News in an e-mail that the study includes an optional biobanking component, and during the three years of the study, four blood samples will be taken from patients who agree to donate such samples. Serum, plasma, DNA, and RNA will be stored in the EuroBioBank for anonymous use in approved research, for example, investigating biomarkers that could be used for future clinical trials.

Also, study participants are being asked to donate skin samples, which will be used to identify disease biomarkers that may aid monitoring during clinical trials that the Jain Foundation and others plan to fund, she said. About 75 percent of patients have donated blood samples, while 30 percent have donated skin samples.