Abstract Details

Title Early Predictors of Future Disability in Stiff Person Syndrome Spectrum Disorders

Topic Autoimmune Neurology

Presentation(s) S40 - Autoimmune Neurology: Stiff Person Syndrome/GAD65 Neurological Autoimmunity, CIDP, and MOGAD (3:30 PM-3:42 PM)

Poster/Presentation
Number 001

Background SPSD are rare disorders with an increasing spectrum of phenotypes. There is a paucity of data identifying whether early predictors for future disability exist.

Objective Assess for early predictors of future disability in a large cohort of individuals with stiff person syndrome spectrum disorders (SPSD).

Design/Methods Retrospective review of medical records from 1997-2022 at Johns Hopkins yielded 235 individuals with SPSD. Clinical phenotypes were assigned: classic SPS (torso/back and limb), partial-SPS (limb, trunk), SPS-plus (classic features with cerebellar/brainstem findings), pure cerebellar ataxia (CA, without classic features), and progressive encephalomyelitis with rigidity and myoclonus (PERM). Outcomes were modified Rankin scale (mRS) and use of assistive device for ambulation at last follow-up. Multivariate logistic regression was used to assess for significant predictors of outcomes.

Results Mean age at symptom onset was 44 years (SD 14 years), and the majority were white (69%) and female (75%). Mean follow up was 9.8 years and mean disease duration was 9.7 years. Phenotype breakdown: 154 classic SPS, 45 SPS-plus, 16 PERM, 11 pure CA, and 9 partial-SPS. The mean mRS was 2.5. Over 70% required assistive devices for ambulation. Female sex (OR 2.08, CI 1.06-4.11, p=0.03), initial symptom of brainstem/cerebellar (OR 4.41, CI 1.63-14.33, p=0.006), and no immunotherapy in the first three years from symptom onset (OR 2.22, CI 1.09-4.55, p=0.03) predicted poorer outcome by mRS. Female sex (OR 1.99, CI 1.01-3.01, p=0.05), Black race (OR 4.14, CI 1.79-10.63, p=0.002), initial symptom of brainstem/cerebellar (OR 2.44, CI 1.04-7.19, p=0.04), and no immunotherapy in the first three years from symptom onset (OR 1.27, CI 1.06-1.52, p=0.007) predicted poorer outcome by use of assistive device for ambulation.

Conclusions Our study identified specific clinical and demographic features associated with future disability in SPSD. Further studies are needed to assess if treating subgroups of SPSD more aggressively will help long-term outcomes.

Authors/Disclosures
Yujie Wang, MD (UW Northwest) PRESENTER	Dr. Wang has received personal compensation in the range of $500-$4,999 for serving as a Consultant for TG Therapeutics. The institution of Dr. Wang has received research support from Genentech.
	No disclosure on file
Loulwah Mukharesh, MD	Dr. Mukharesh has nothing to disclose.
Salman Aljarallah, MD	Dr. Aljarallah has received personal compensation in the range of $0-$499 for serving on a Scientific Advisory or Data Safety Monitoring board for Novartis. Dr. Aljarallah has received personal compensation in the range of $0-$499 for serving on a Scientific Advisory or Data Safety Monitoring board for Biogen. Dr. Aljarallah has received personal compensation in the range of $0-$499 for serving on a Speakers Bureau for Sanofi Genzyme.
Maria I. Reyes-Mantilla, MD (Johns Hopkins University, Neurology)	Dr. Reyes-Mantilla has nothing to disclose.
Michael Comisac III	Mr. Comisac has nothing to disclose.
Alexandra R. Balshi	Ms. Balshi has nothing to disclose.
	No disclosure on file
	No disclosure on file
Kathryn Fitzgerald, PhD (Johns Hopkins University)	The institution of Dr. Fitzgerald has received research support from NIH. The institution of Dr. Fitzgerald has received research support from National MS Society.
Scott D. Newsome, DO, FAAN (Johns Hopkins Hospital)	Dr. Newsome has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Biogen. Dr. Newsome has received personal compensation in the range of $10,000-$49,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Genentech. Dr. Newsome has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Novartis. Dr. Newsome has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Bristol Myers Squibb. Dr. Newsome has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for TG Therapeutics. The institution of Dr. Newsome has received research support from Biogen. The institution of Dr. Newsome has received research support from Genentech/Roche. The institution of Dr. Newsome has received research support from Department of Defense. The institution of Dr. Newsome has received research support from Patient Centered Outcomes Research Institute. The institution of Dr. Newsome has received research support from National MS Society. The institution of Dr. Newsome has received research support from The Stiff Person Syndrome Research Foundation. The institution of Dr. Newsome has received research support from Lundbeck. The institution of Dr. Newsome has received research support from Sanofi. Dr. Newsome has received personal compensation in the range of $10,000-$49,999 for serving as a Lead PI for Clinical Trial with Roche.