Abstract Details

Title Successful Autologous Hematopoietic Stem Cell Transplant in a Case of Stiff Person Spectrum Disorder with a positive Glycine Receptor antibody

Topic Autoimmune Neurology

Presentation(s) P4 - Poster Session 4 (8:00 AM-9:00 AM)

Poster/Presentation
Number 6-019

Objective To present a case of glycine receptor (GlyR) antibody-positive Stiff Person Syndrome Spectrum Disorder (SPSD) treated with autologous hematopoietic stem cell transplant (aHSCT).

Background

SPSD is an autoimmune disease with progressive neurologic symptoms and in some cases severe disability. The exact pathophysiology of SPSD is unknown and treatment response to immunotherapy is variable. Autoantibodies against glutamic acid decarboxylase epitope 65 (GAD65) and GlyR antibody are commonly associated with SPSD. While large studies using aHSCT are currently lacking and greatly needed, this is a promising treatment approach for refractory SPSD with the potential of significant symptom improvement and perhaps clinical remission from disease. While cases of successful aHSCT in GAD65+ SPSD have been reported, to our knowledge only one other GlyR antibody-positive patient in the setting of progressive encephalomyelitis with rigidity and myoclonus (PERM) has been described.

Design/Methods

Case report

Results A 59-year-old patient with GlyR antibody-positive SPSD was treated with immunotherapy including IVIG, plasma exchange (PLEX), Rituximab, and Mycophenolate Mofetil but continued to have neurological disability. Despite an initial response to PLEX with improved stiffness, muscle spasms, dysautonomia, and mobility, this improvement was not sustained. The patient continued to progress over two years despite immunotherapy, leading to the decision for aHSCT. Nine months after aHSCT, he showed significant clinical amelioration. Comparison of pre- to 21 weeks post-aHSCT findings included a 25-foot walk time reduction from 28.4 seconds to 15 seconds and a stiffness index reduction from 4/6 to 2/6. The patient also had improved gait, phonation, and reduced pain.

Conclusions We report a case of symptomatic improvement, evidenced by reduced walk time and stiffness index, after aHSCT in an anti-GlyR positive SPSD patient. Nine months after the transplant the patient had further improved symptoms, indicating aHSCT as a beneficial therapy for this patient and potentially others with similar presentations.

Authors/Disclosures
Sofia I. I Celli PRESENTER	Mrs. I Celli has nothing to disclose.
Richard Nash (CBCI)	No disclosure on file
Constance McMenamin, NP (University of Colorado/ MS Clinic)	Ms. McMenamin has nothing to disclose.
Madeline Garza, MD	Dr. Garza has nothing to disclose.
Gloria Von Geldern, MD, FAAN (University of Washington)	The institution of Dr. Von Geldern has received research support from Novartis. The institution of Dr. Von Geldern has received research support from Contineum Therapeutics. Dr. Von Geldern has received personal compensation in the range of $0-$499 for serving as a DSMB member with NIH, NINDS. Dr. Von Geldern has a non-compensated relationship as a editorial board member with MS and Related Disorders Journal that is relevant to AAN interests or activities.
	No disclosure on file
Amanda L. Piquet, MD, FAAN (University of Colorado)	The institution of Dr. Piquet has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Genentech/Roche. 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 $5,000-$9,999 for serving as a Consultant for Kyverna . The institution of Dr. Piquet has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Genentech/Roche. The institution of Dr. Piquet has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Kyverna. The institution of Dr. Piquet has received personal compensation in the range of $10,000-$49,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Alexion. 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. Dr. Piquet has received personal compensation in the range of $500-$4,999 for serving as an Expert Witness for Cortez & Associates. Dr. Piquet has received personal compensation in the range of $500-$4,999 for serving as an Expert Witness for Falk Waas. The institution of Dr. Piquet has received research support from Rocky Mountain MS Center. 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. The institution of Dr. Piquet has received research support from Kyverna . 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.

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