Abstract Details

Title Can Certain Baseline Characteristics in Patients with Stiff Person Syndrome (SPS) Predict Disease Burden and Functional Outcomes?

Topic Autoimmune Neurology

Presentation(s) P4 - Poster Session 4 (5:30 PM-6:30 PM)

Poster/Presentation
Number 15-005

Objective To identify if baseline characteristics such as phenotype, body-region involvement and others
can predict disease burden and functional-outcomes in patients with Stiff-Person Syndrome
(SPS).

Background SPS is a neuroimmunological disease that presents with various manifestations and can cause
significant disability. It is not well-known whether there are potential risks-factors for disease-burden and future disability in SPS; especially factors that are present early on that give insight
into worse prognosis.To identify if baseline characteristics such as clinical phenotype and body-region involvement help determine disease-burden and predict future disability/functional-outcomes in patients with Stiff-Person Syndrome(SPS).

Design/Methods Retrospective medical record review from 1997 to 2019 at Johns Hopkins. Clinical phenotypes
were assigned by review of history and examination; classic SPS, stiff-limb syndrome, SPS-
plus(classic SPS+cerebellar/brainstem findings), pure cerebellar(no musculoskeletal
symptoms/signs),and progressive encephalomyelitis with rigidity and myoclonus(PERM). Initial
symptom presentation(stiffness;spasms;cerebellar;brainstem) and stiffness location(limb;trunk/torso;face) were also recorded. We calculated modified-Rankin Scale(mRS) scores
for each clinical visit and a subset had timed 25-foot walk(T25FW) available. We calculated if
SPS phenotype or initial symptoms predicted change in mRS or T25FW over time using mixed
effects models.

Results We identified 186 patients(average age of onset:42y[SD:14.4];73% female;27% non-white)
with SPS-spectrum disorders with moderate-disability(median mRS=3.0; IQR:2-3). Both initial
brainstem/cerebellar symptoms(iBSCeSym) and SPS-plus/cerebellar phenotypes were
associated with high-mRS at baseline(mean difference in mRS for iBSCeSym:0.51; 95%CI:0.13-
0.88;p=0.009; SPS-plus:0.42; 95%CI:0.01-0.82;p=0.05; cerebellar:0.62; 95%CI:0.03-
1.25;p=0.04). iBSCeSym and SPS-plus phenotypes were associated with slower-walking speeds
(n=134; iBSCeSym:63% slower; 20.5-221.1%;p=0.002; SPS-plus:64% slower;18.1-
227.1%;p=0.004). In longitudinal-analyses, SPS-phenotypes and initial symptoms did not predict
change in mRS or T25FW.

Conclusions

We describe a unique observation in the largest cohort of patients with SPS;SPS-plus/cerebellar phenotypes have greater disability at presentation compared to their counterparts. These findings suggest that disease phenotype and/or body-region involved may act as a biomarker for early disease-burden and emphasize the need for earlier diagnosis and considerations of implementing immune-therapies earlier.

Authors/Disclosures
Loulwah Mukharesh, MD (.) PRESENTER	Dr. Mukharesh has nothing to disclose.
Kathryn Fitzgerald, PhD (Johns Hopkins University)	Dr. Fitzgerald has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Setpoint Medical. The institution of Dr. Fitzgerald has received research support from NIH. The institution of Dr. Fitzgerald has received research support from National MS Society.
Yujie Wang, MD (UW Northwest)	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. The institution of Dr. Wang has received research support from uniQure. The institution of Dr. Wang has received research support from NIH/NINDS.
Scott D. Newsome, DO, F�鶹��ýӳ�� (Johns Hopkins Hospital)	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 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 Lundbeck. The institution of Dr. Newsome has received research support from Sanofi. The institution of Dr. Newsome has received research support from Kyverna Therapeutics. 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.

�鶹��ýӳ��

�鶹��ýӳ��