Johns Hopkins Studies

Johns Hopkins and the Kennedy Krieger Institute are currently recruiting for two studies!  Volunteering for studies like this helps provide researchers with the information they need to provide better treatments, understand the mechanisms of the disease, and search for a cure.

For Family Members (no travel necessary!):

The Johns Hopkins Hospital and the Kennedy Krieger Institute are looking for first-degree relatives of FSHD patients ages 35 and older who do not currently show symptoms.  Volunteers will be asked to give a blood draw, which can be performed at any local lab.  The blood draw, the genetic test, and shipping will be covered by the study.

Interested individuals should contact Pegah Dehghan:

Study Protocol Number: NA-00019985. 

For Patients:

The Kennedy Krieger Institute is recruiting volunteers with FSHD for a clinical research study. Volunteers will be asked to undergo muscle strength testing and non-invasive magnetic resonance imaging (MRI) and spectroscopy (MRS) of the muscles. The strength testing and MRI/MRS scans will be repeated every 3-6 months for up to 2 years.

The study is particularly interested in recruiting individuals over the age of 12 years who started having symptoms of FSHD within the past 3 years.

Although there are no direct benefits to volunteers who participate in this study, the information collected from the study will be used to develop disease biomarkers for FSHD.

“Many of our patients with FSHD tell us that they started developing symptoms in adolescence or (looking back) feel that there was a period of more rapid progression around this time,” said Doris Leung, MD, the principal investigator of the study. “It’s unclear to us why this happens, and we’d like to learn more by following a group of these patients closely over time.

“We’re going to be collecting detailed medical histories and performing strength testing along with the sequential MRI scans, and this could give us greater insight into factors that trigger disease progression,” Leung explained.

Leung thinks the research could help individuals reach a correct diagnosis sooner. “I suspect that the diagnosis of FSHD is frequently missed at the beginning,” she said. “By the time patients see us [at the Kennedy Krieger Institute] for the first time, many have already gone through a long diagnostic odyssey that involved seeing multiple physicians and undergoing potentially unnecessary tests.

“Although it’s not a direct aim of the research, I’d like to think that having a better characterization of what FSHD looks like in the early stages can indirectly raise awareness among physicians and lead to patients being diagnosed faster,” Leung said.

Interested individuals should contact Doris Leung, MD at 443-923-9521 or e-mail:

Kennedy Krieger Institute, Johns Hopkins Medical Institutions Study Protocol Number: NA_00065256. Download study flyer.


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