People with facioscapulohumeral muscular dystrophy (FSHD) are “very enthusiastic” about participating in clinical trials and studies, according to researchers, who report that foot and leg, and shoulder and arm weakness have the greatest impact on patients’ quality of life.
The investigators said their study found 93% of patients were motivated to participate some type of clinical trial.
The findings from the study, “A Survey of Patient-Identified Symptom Themes and Attitudes Toward Clinical Trials in Facioscapulohumeral Muscular Dystrophy (FSHD),” were presented in a poster session at the 2019 American Academy of Neurology (AAN) annual meeting, which recently took place in Philadelphia.
FSHD is the third most common muscular dystrophy, and primarily affects the muscles of the face, shoulder blades and upper arms. Changes in the DUX4 gene are responsible for FSHD type 1 and 2.
As scientists’ understanding of this type of MD has increased, therapeutic targets have begun to be identified, and attention is turning toward planning clinical trials. However, that requires detailed knowledge of how people with FSHD view trials, and how likely they are to participate in them.
“We are at a point now where we have a discovered a potential gene therapy target for this type of muscular dystrophy, but this is not a terminal muscular dystrophy so there is not a lot of research published on this patient population’s quality of life or how their disease impacts it. This research was looking to see how enthusiastic patients are for potential clinical trials, and the impact of disease on their quality of life,” researcher David Shirilla said in an interview with Muscular Dystrophy News Today on site.
The 42-question survey, sent to those with contact information available through the FSH Society, was designed to assess the characteristics of each person’s disease, how these characteristics affected quality of life, and what the person’s attitudes were toward participating in clinical trials.
Out of 1,300 potential respondents, 390 were FSHD patients, who completed the survey between December 2016 and February 2017. The majority were from the US (333, 85%), just over half (55%) were female, and the average age was 52.
Individuals with FSHD reported symptoms starting, on average, at age 16. But, the average age of diagnosis was 32, suggesting a fairly drastic delay in identifying the disease.
“We need to identify the disease quicker in patients,” said Shirilla, a fellow at University of Kansas. “Typically you’re going to see the most benefit [from gene therapy] in muscle that has been minimally affected or not affected at all. Once muscle becomes severely weak, it gets fibrotic and less amenable to improvement from gene therapy. So, the earlier the treatment gets started, the better.”
Additionally, although three-quarters of respondents had done genetic testing, most did not know what specific type of FSHD they had. Since that impacts treatment, researchers said this may indicate a need for greater education and communication between patients and the clinicians administering such genetic tests.
The most common areas of muscle weakness reported were the scapula, or shoulder blade (91%), abdominal/pelvic (82%), and biceps (73%).
The most common symptoms reported to detrimentally affect quality of life — ranked as “very much” by respondents — were foot and leg weakness (54%), and arm and shoulder weakness (49%).
Interestingly, 51% of those surveyed also reported that core and abdominal weakness “very much” affected their quality of life. Shirilla said this conclusion “has probably been underrepresented in literature in the past.”
A clear majority — 93.8% — of the survey participants said they would be interested in participating in clinical trials. Almost three-quarters of respondents (73%) expressed interest in studies of investigational drugs or observational studies, and 65% in studies involving investigational devices. About half of participants (47%) said they would be willing to participate in very long visits (over eight hours) as part of such studies.
“This is a patient population that is very enthusiastic about upcoming trail opportunities,” Shirilla said.
“Only a minority cited prolonged imaging studies (22%) or tissue biopsy (24%) as potential barriers to enrollment,” the poster read.
While these findings suggest that FSHD patients are highly motivated to participate in future clinical trials, the researchers acknowledge that their sample might be skewed as “limitations to the survey include possible responder and/or registry bias.”