OBJECTIVES: Facioscapulohumeral muscular dystrophy (FSHD) is a rare, debilitating disease for which there are no approved pharmacological interventions. As the disease progresses, patients lose upper limb function and mobility, which results in a decrease in the ability to perform activities of daily living and independence; patients often live with chronic pain. This systematic literature review assessed the existing evidence base regarding clinical, economic and humanistic outcomes in FSHD.

METHODS: A systematic literature review was conducted by searching PubMed, EMBASE and Cochrane Reviews databases for studies reporting on FSHD, with no limits on interventions, comparators, outcomes, study design or date of publication. In addition, three conferences not indexed in EMBASE were hand searched (limit of last three years). Screening was performed in two steps by two independent researchers at both the title and abstracts and full text review stage. Articles were categorized according to the topic reported, including: pharmacological and non-pharmacological treatments and outcomes; outcome measures and validation; humanistic burden and patient reported outcomes (PROs); disease classification; diagnosis; guidelines and economic burden.

RESULTS: A total of 2,212 full texts and 774 conference abstracts were identified for review with 175 full texts and 177 conference abstracts meeting the pre-specified inclusion criteriad. Of the full texts included, the most reported topic was pharmacological and non-pharmacological treatments and outcomes (n=61), with outcome measures and validation being the second most reported topic (n=37). Among the conference abstracts, the most reported study topic was outcome measures and validation (n=69), with the second most reported topic disease classification (n=33).

CONCLUSIONS: The main interests in FSHD research include outcomes related to pharmacological and non-pharmacological treatments, followed by the validation of outcome measures for use in research. Research efforts on minimizing the impact of the debilitating and progressive nature of FSHD should continue until a treatment is approved.