Abstract Details

Title Not One-in-a-million: A Single-Center Case Series of Patients with Stiff Person Syndrome

Topic Autoimmune Neurology

Presentation(s) C12 - Autoimmune Movement Disorders (11:11 AM-11:18 AM)
P2 - Poster Session 2 (2:45 PM-3:45 PM)

Poster/Presentation
Number 043

Background

SPS is a rare autoimmune disorder characterized by progressive muscle stiffness and painful spasms estimated to occur in 1-2 per million people within the US, although large, population-based epidemiological studies are lacking. While proposed diagnostic criteria exist, there are no standardized international consensus criteria.

Objective

Describe the epidemiology of stiff person syndrome (SPS) patients seen at a large academic health system.

Design/Methods

We queried Health Data Compass, a linked dataset connecting EHRs from a single academic health care system with the Colorado All Payers Claim Database from 2012 through 2022 for all patients ≥ 18-year-old with ICD-10 codes pertaining to Stiff Person Syndrome [G25.82] with subsequent record review for diagnostic confirmation. Proposed diagnostic criteria applied to understand the sensitivity of these criteria in our cohort and to evaluate the agreement among criteria.

Results

273 patients met initial inclusion criteria using ICD-10 codes. 66 patients were confirmed to have SPS based on chart review. The database population over the interval was 2,802,246 persons. Prevalence for SPS was 2.36 per 100,000 persons (95% CI:(8.18405, 10.4439)). The mean age of patients was 51.1 years (SD=13.4), 60.6% were female, and 78.8% Caucasian, 12.1% Black, and 10 % other. 62% were considered antibody positive (either serum GAD 65 IgG > 20 nmol/L, serum GAD 65 IgG > 10,000 IU/mL, CSF GAD 65 IgG positive, GlyR IgG positive, or amphiphysin IgG positive). Estimated prevalence of SPS within this cohort is 2.36 (95% CI 1.79-2.92) per 100,000 persons. Accounting for differences in diagnostic criteria, the estimated prevalence ranges from 1.28 (95% CI 0.87-1.70) to 2.36 (95% CI 1.79-2.92) per 100,000 persons.

Conclusions

Understanding the true disease burden of SPS is fundamental to ensuring optimal patient care, allocating appropriate system resources, and to improve upon current treatment standards. We identified a prevalence of 2.36 per 100,000 persons, greatly exceeding previous descriptions.

Authors/Disclosures
Paul D. Crane, MD (University of Colorado) PRESENTER	Dr. Crane has nothing to disclose.
Stefan Sillau	No disclosure on file
Renee Dreher	No disclosure on file
Rikki Fix	Ms. Fix has nothing to disclose.
Phillip Winters	Mr. Winters has nothing to disclose.
Russell J. Van Coevering III, MD (Renown Medical Center)	Dr. Van Coevering has nothing to disclose.
Eric Engebretson (University of Colorado Denver)	Mr. Engebretson has nothing to disclose.
Brooke Valdez (University of Colorado)	Brooke Valdez has nothing to disclose.
Kavita Nair, PhD, FAAN (University of Colorado)	Dr. Nair has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Bristol Meyers Squibb. Dr. Nair has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Novartis. Dr. Nair has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for PhRMA Foundation. Dr. Nair has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Genentech. Dr. Nair has received personal compensation in the range of $500-$4,999 for serving as a Consultant for TG Therapeutics. Dr. Nair has received personal compensation in the range of $500-$4,999 for serving as a Consultant for MJH Healthcare. Dr. Nair has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Sanofi. Dr. Nair has received personal compensation in the range of $500-$4,999 for serving as a Consultant for EMD Serono. Dr. Nair has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Horizon. Dr. Nair has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Anylam . Dr. Nair has received personal compensation in the range of $10,000-$49,999 for serving on a Speakers Bureau for Sanofi-Genzyme. The institution of Dr. Nair has received research support from Genentech. The institution of Dr. Nair has received research support from Novartis. The institution of Dr. Nair has received research support from Genentech. The institution of Dr. Nair has received research support from Phrma Foundation. The institution of Dr. Nair has received research support from Bristol Meyers Squibb. The institution of Dr. Nair has received research support from Novartis. The institution of Dr. Nair has received research support from NINDS.
Aaron M. Carlson, MD (University of Colorado, School of Medicine, Department of Neurology)	Dr. Carlson has received research support from Horizon Therapeutics (Amgen).
Amanda L. Piquet, MD, FAAN (University of Colorado)	The institution of Dr. Piquet has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Genentech. The institution of Dr. Piquet has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Alexion. The institution of Dr. Piquet has received personal compensation in the range of $0-$499 for serving as a Consultant for UCB. The institution of Dr. Piquet has received personal compensation in the range of $0-$499 for serving as a Consultant for EMD Serono. Dr. Piquet has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Genentech. Dr. Piquet has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Alexion. The institution of Dr. Piquet has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Genentech. The institution of Dr. Piquet has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Kyverna. Dr. Piquet has received personal compensation in the range of $10,000-$49,999 for serving as an Expert Witness for Sands Anderson PC. Dr. Piquet has received personal compensation in the range of $5,000-$9,999 for serving as an Expert Witness for Joe Jones Law Firm. The institution of Dr. Piquet has received research support from Rocky Mountain MS Center. The institution of Dr. Piquet has received research support from Novartis. The institution of Dr. Piquet has received research support from Abbvie. The institution of Dr. Piquet has received research support from Roche/Genentech. The institution of Dr. Piquet has received research support from NYU. The institution of Dr. Piquet has received research support from Anokion. The institution of Dr. Piquet has received research support from UCB . The institution of Dr. Piquet has received research support from Foundation for Sarcoidosis. Dr. Piquet has received publishing royalties from a publication relating to health care. Dr. Piquet has received publishing royalties from a publication relating to health care. Dr. Piquet has received personal compensation in the range of $10,000-$49,999 for serving as a Litigative Consultant with US-Dept HHS/DICP. Dr. Piquet has a non-compensated relationship as a Medical Advisory Board Member with Autoimmune Encephalitis Alliance (AEA) that is relevant to AAN interests or activities. Dr. Piquet has a non-compensated relationship as a Medical Advisory Board Member with Stiff Person Syndrome Research Foundation (SPSRF) that is relevant to AAN interests or activities.