Abstract Details

Title Patient Reported Impact of Symptoms in Spinal Bulbar Muscular Atrophy (PRISM-SBMA)

Topic Neuromuscular and Clinical Neurophysiology (EMG)

Presentation(s) S33 - ALS and Motor Neuron Diseases (2:12 PM-2:24 PM)

Poster/Presentation
Number 007

Background SBMA is an inherited motor neuron disease caused by a CAG-repeat expansion in the androgen receptor gene on the X chromosome. Variations in the disease onset and progression have been observed. Evaluation of disease burden is important for assessing the efficacy of candidate therapeutics and may be useful for regulatory approval. In addition, the evaluation of disease burden provides valuable information for improving patient care

Objective To determine the frequency and relative importance of symptoms experienced by patients with spinal and bulbar muscular atrophy (SBMA) and to identify the modifiable factors that have the greatest effect on severity of symptoms

Design/Methods We conducted an international cross-sectional study of 232 patients with SBMA. Participants provided input regarding 18 themes and 208 symptoms that affect SBMA patients. Participants were asked about the relative importance of each symptom, and an analysis was done to determine how age, education, disease duration, CAG repeat length, and ambulation status relate to symptom prevalence

Results Hip, thigh, or knee weakness (96.5%), fatigue (96.5%), problems with hands and fingers (95.8%), and limitations with walking were themes that had high prevalence in the study population. Ambulatory status was associated with 9 of the 14 themes, and CAG repeat length and education were each associated with 4 of 14 themes. The prevalence of fatigue was reduced in those with lower CAG repeat length and increased with longer disease duration. Younger patients reported a higher prevalence of emotional issues

Conclusions There are a diversity of themes that are important to patients with SBMA. These themes have a variable level of importance to the SBMA population and represent factors for assessment in future therapeutic interventions

Authors/Disclosures
Abdullah Z. Alqahtani, MD (National Institutes of Health) PRESENTER	Dr. Alqahtani has nothing to disclose.
Angela Kokkinis	Angela Kokkinis has nothing to disclose.
Nuran Dilek (University of Rochester)	Nuran Dilek has nothing to disclose.
Kenneth H. Fischbeck, MD, FAAN (NINDS, NIH, Neurogenetics)	Dr. Fischbeck has received research support from NINDS/NIH. Dr. Fischbeck has received intellectual property interests from a discovery or technology relating to health care. Dr. Fischbeck has a non-compensated relationship as a Scientific Review Board member with Kennedy's Disease Association that is relevant to AAN interests or activities. Dr. Fischbeck has a non-compensated relationship as a Scientific Council member with Association Francaise contre les Myopathies that is relevant to AAN interests or activities. Dr. Fischbeck has a non-compensated relationship as a Independent Review Committee member with Target ALS that is relevant to AAN interests or activities. Dr. Fischbeck has a non-compensated relationship as a Scientific Advisory Board member, Musculoskeletal Diseases with Novartis that is relevant to AAN interests or activities. Dr. Fischbeck has a non-compensated relationship as a Senior Clinical Consultant with n-Lorem Foundation that is relevant to AAN interests or activities. Dr. Fischbeck has a non-compensated relationship as a Scientific Advisory Committee member with Stanford GNE myopathy program that is relevant to AAN interests or activities. Dr. Fischbeck has a non-compensated relationship as a Scientific Advisory Board member with Hereditary Disease Foundation that is relevant to AAN interests or activities. Dr. Fischbeck has a non-compensated relationship as a Scientific Advisory Board member with Packard Center for ALS Research that is relevant to AAN interests or activities. Dr. Fischbeck has a non-compensated relationship as a Scientific Advisory Board member with Huntington's Disease Society of America that is relevant to AAN interests or activities. Dr. Fischbeck has a non-compensated relationship as a TACT review panel member with TREAT-NMD that is relevant to AAN interests or activities.
Chad R. Heatwole, MD, FAAN (University of Rochester Medical Center)	Dr. Heatwole has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Virginia Commonwealth University. Dr. Heatwole has received personal compensation in the range of $50,000-$99,999 for serving as a Consultant for Legal Med. Dr. Heatwole has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Neurocrine. Dr. Heatwole has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Novartis. Dr. Heatwole has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Swan Bio. Dr. Heatwole has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Harmony. Dr. Heatwole has received personal compensation in the range of $0-$499 for serving as a Consultant for Iris. Dr. Heatwole has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Recursion. Dr. Heatwole has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Avidity Biosciences. Dr. Heatwole has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Lupin. Dr. Heatwole has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Neurocrine. Dr. Heatwole has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Sanofi. Dr. Heatwole has received personal compensation in the range of $500-$4,999 for serving as an Expert Witness for New York Central Mutual. Dr. Heatwole has received personal compensation in the range of $500-$4,999 for serving as an Expert Witness for Penn Prop and Gas. The institution of Dr. Heatwole has received research support from Department of Defense. The institution of Dr. Heatwole has received research support from Novartis. The institution of Dr. Heatwole has received research support from MJFF. The institution of Dr. Heatwole has received research support from FARA. The institution of Dr. Heatwole has received research support from NIH. The institution of Dr. Heatwole has received research support from University of Miami. The institution of Dr. Heatwole has received research support from MDA. Dr. Heatwole has received intellectual property interests from a discovery or technology relating to health care.
Christopher Grunseich, MD (National Institutes of Health)	Dr. Grunseich has nothing to disclose.

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