To better characterize patient-identified facioscapulohumeral muscular dystrophy (FSHD) symptom impact on quality of life and attitudes towards clinical trials.

FSHD is a chronically progressive muscular dystrophy, which can result in loss of the ability to walk or maintain employment. Recent advances in our understanding of the pathogenetic mechanisms of FSHD have identified targets for therapy, thereby turning attention toward clinical trial planning.  However, the patient experience of FSHD and attitudes towards clinical trials are poorly understood.

We performed a prospective survey of FSHD patients and family members contained in the FSH Society contact database (n=2000) from December 2016 to February 2017.  The anonymous survey included 42 questions covering patient characteristics, disease impact, and clinical trial preparedness.

Four hundred and thirty-two individuals, including 390 FSHD patients (data reported here) returned surveys: a majority were women (55%), with mean age 52 years (range 15-86).  While 75% reported having genetic testing, over half did not know their type of FSHD.  Median age at symptom onset was 16 years and at diagnosis was 32 years.  The most common regions of muscle weakness involved the scapula (90.5%), abdomen/pelvis (82.1%), and biceps (73.8%), with 42.7% reporting multiple regions of weakness (i.e. face, scapula, and ankle).  The most common factors affecting quality of life ‘very much’ were foot/leg weakness (54%) and arm/shoulder weakness (49%). The median number of near falls per month was 3 (interquartile range 7).  A majority (93.8%) expressed interest in participating in clinical trials, investigational drug (73%) or observational studies (73%).  Many were willing to undergo long study visits (8 hours or longer, 46%).  Limitations to the survey include possible responder and/or registry bias.

FSHD patients are motivated to participate in clinical trials.   Foot/leg and arm/shoulder weakness were the main patient-identified symptoms with high impact on quality of life.