A new tool for measuring disease burden in FSH muscular dystrophy

 by Amanda Hill, Denver, Colorado

FSHD clinical researchers recently published what may soon become a standard battery of assessments for use in clinical trials, an exciting and essential milestone for the development of FSHD therapies. The combined assessments are altogether called a “composite outcome measure” (COM) and are designed to more fully capture changes in FSHD disease progression than any individual measure could on its own.  

Researchers at the University of Rochester Medical Center, University of Kansas Medical Center, and the Ohio State University Wexner Medical Center collaborated to create the FSHD-COM and published their findings earlier this year in the scientific journal, Muscle and Nerve. The FSHD-COM contains 18 individual assessments that were expertly selected to reflect muscle involvement and disease burden as it is actually experienced by FSHD patients.

The FSHD-COM includes tests that many FSHD patients are likely already familiar with, such as the timed sit-to-stand test and the hand grip strength test. It also includes some more general and practical tasks, like time to pick up a penny from the floor, which was chosen to evaluate trunk strength and balance. The 18 assessments take only 35 minutes to complete and cover five body regions that the researchers determined were most relevant in measuring disease progression: legs, arms and shoulders, trunk, hands, and overall balance.

After creating the FSHD-COM, the researchers launched a clinical trial in order to begin testing it as reliable tool to capture changes in disease progression. They administered the FSHD-COM to 41 patients, and then 32 of those same patients came back three weeks later to perform the tests a second time. Researchers used the data collected at both visits to determine that the FSHD-COM was “reliable” and had good “internal consistency,” statistical terms that essentially mean the battery produces stable and corresponding measurements. In addition, the researchers correlated FSHD-COM scores to measures of clinical severity, like manual muscle tests, and to patient-reported measures of disease burden and emotional and social well-being. They found that the FSHD-COM correlated well with measures of clinical severity and with patient-reported measures of physical disease burden, further supporting its potential utility.

So why is all this important for the development of FSHD therapeutics? Composite measures, like the FSHD-COM, allow researchers to cast a wider net when they are looking for disease burden improvements in clinical trials. This is especially helpful for a disease like FSHD whose manifestation and progression are highly variable from one individual to the next. For example, imagine two patients are taking the same drug in a clinical trial. One patient notices that her balance is improved while walking, while another notices that he can lift his arms better, like when taking off his shirt. While very different, both of these improvements are valuable to FSHD patients and both would be captured by the FSHD-COM.

The FSHD-COM isn’t quite ready for its big-screen debut yet. The next step in the development of the battery is a larger clinical trial to further determine its validity and reliability across multiple sites and when administered by multiple evaluators. This clinical trial is being run by the FSHD Clinical Trial Research Network (CTRN) and is currently recruiting participants. If you are interested in volunteering, learn more on ClinicalTrials.gov. The FSH Society has supported the CTRN and Drs. Jeffrey Statland and Rabi Tawil in the development and ongoing testing of the FSHD-COM.

Facioscapulohumeral muscular dystrophy functional composite outcome measure. Eichinger K, Heatwole C, Iyadurai S, King W, Baker L, Heininger S, Bartlett A, Dilek N, Martens WB, Mcdermott M, Kissel JT, Tawil R, Statland JM. Muscle Nerve. 2018 Jan 30. doi: 10.1002/mus.26088. PubMed link.

Editor’s note: Amanda Hill studied molecular biology at Scripps College and earned an MBA in bioinnovation and entrepreneurship from the University of Colorado Denver. She is strategic development manager for the Linda Crnic Institute for Down Syndrome at the University of Colorado Anschutz Medical Campus. Her husband was diagnosed with FSHD in 2016.



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