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stiff-person syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Features include very common findings: Anxiety, Excessive sweating (hyperhidrosis), Falls, and Abnormal electrical muscle activity (EMG) (emg abnormality) and others; and common findings: Exaggerated startle response, Muscle stiffness (rigidity), Agoraphobia, and Overactive reflexes (hyperreflexia) and others. 43 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	13	Exaggerated startle response, Muscle stiffness (rigidity), Depression
Muscles	8	Proximal limb muscle stiffness, Asymmetric limb muscle stiffness, Frequent falls
Lab test results	7	Autoimmune antibody positivity, Anti-Amphiphysin antibody, Anti-DPPX antibody
Blood and immune system	3	Autoimmunity, Low red blood cell count (anemia), Autoimmune antibody positivity
Skin	2	Vitiligo, Excessive sweating (hyperhidrosis)
Bones and joints	2	Severe backward arching of the body (opisthotonus), Excessive inward curve of the lower back (lumbar hyperlordosis)
Hormones	2	Diabetes mellitus, Hypothyroidism
Arms and legs	2	Proximal limb muscle stiffness, Asymmetric limb muscle stiffness
Heart and blood vessels	2	Hypertension, Tachycardia
Digestive system	2	Difficulty swallowing (dysphagia), Constipation
Metabolism	1	Fever
Eyes	1	Diplopia
Lungs and breathing	1	Apnea
Ears	1	Vertigo

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for stiff-person syndrome. An additional 2 compounds hold orphan drug designation.

Orphan Drug Designations

While no drugs are FDA-approved specifically for stiff-person syndrome, some of the following designated compounds may be used off-label in clinical practice. Treatment decisions should be made in consultation with a specialist familiar with this condition.

The following drugs have received orphan drug designation from the FDA for stiff-person syndrome. Orphan designation reflects regulatory interest and does not indicate approval for treatment.

Brand Name	Generic Name	Sponsor	Designated	Exclusivity End	Designation Status
autologous T cells transduced with lentiviral vector containing a chimeric antigen receptor directed against CD19	autologous T cells transduced with lentiviral vector containing a chimeric antigen receptor directed against CD19	Kyverna Therapeutics, Inc	2024	—	Designated
Intravenous immune globulin (human) 10%	Intravenous immune globulin (human) 10%	Octapharma USA, Inc.	2008	—	Designated

Gene therapy approaches for stiff-person syndrome have been reported in the published literature.

Clinical Trials

10 trials found

Explore Trials

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

10 clinical trials registered, 2 recruiting. Interventions under study include biologic therapy, drug therapy, other interventions, and procedural interventions. Pipeline includes 1 PHASE3, 3 PHASE2, 3 PHASE1. Research is sponsored by a mix of industry and academic institutions.

NCT ID	Title	Phase	Sponsor	Status
[NCT06502015](https://clinicaltrials.gov/study/NCT06502015)	Biomarkers in Autoimmune Disease of Nervous System	—	Tongji Hospital	RECRUITING
[NCT07403188](https://clinicaltrials.gov/study/NCT07403188)	A Long-Term Follow-Up Study for Participants Previously Treated With KYV-101	—	Kyverna Therapeutics	RECRUITING

166 publications have been identified in PubMed for stiff-person syndrome. Research spans Case Report / Case Series (43%), Review / Meta-Analysis (27%), and Epidemiology / Natural History (7%).

Research Type	Count	% of Total
Patient case studies	72	43%
Research summaries	44	27%
Disease patterns and progression	12	7%
Laboratory research	10	6%
Other research	9	5%
New treatment approaches	7

Recent Publications

Nigro A (2026). [PMID: 42273950](https://pubmed.ncbi.nlm.nih.gov/42273950/). *Vasc Med*. [Other]
Suenaga M (2026). [PMID: 42273282](https://pubmed.ncbi.nlm.nih.gov/42273282/). *JCEM Case Rep*. [Case Report / Case Series]
Svendsen M (2026). [PMID: 41081611](https://pubmed.ncbi.nlm.nih.gov/41081611/). *J Palliat Med*. [Case Report / Case Series]
Wu CC (2026). [PMID: 40916839](https://pubmed.ncbi.nlm.nih.gov/40916839/). *Mov Disord Clin Pract*. [Case Report / Case Series]
Nair BS (2026). [PMID: 41797642](https://pubmed.ncbi.nlm.nih.gov/41797642/). *Ann Indian Acad Neurol*. [Case Report / Case Series]
Calabresi PA (2026). [PMID: 41454463](https://pubmed.ncbi.nlm.nih.gov/41454463/). *Mult Scler*. [Clinical Trial Publication]
Dalakas MC (2026). [PMID: 41526143](https://pubmed.ncbi.nlm.nih.gov/41526143/). *Handb Clin Neurol*. [Review / Meta-Analysis]
Alaeddine L (2026). [PMID: 41669064](https://pubmed.ncbi.nlm.nih.gov/41669064/). *J Orthop Case Rep*. [Case Report / Case Series]
Zhao L (2026). [PMID: 42147223](https://pubmed.ncbi.nlm.nih.gov/42147223/). *Front Oncol*. [Case Report / Case Series]
Friedman AR (2026). [PMID: 41934064](https://pubmed.ncbi.nlm.nih.gov/41934064/). *Best Pract Res Clin Rheumatol*. [Review / Meta-Analysis]

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stiff-person syndrome

Overview

Clinical Presentation

Explore clinical features

Diagnosis

Treatment

Orphan Drug Designations

Clinical Trials

Prognosis

Research Landscape

Recent Publications

Patient Support

Patient Advocacy Groups

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

stiff-person syndrome

Overview

Clinical Presentation

Explore clinical features

Diagnosis

Treatment

Orphan Drug Designations

Clinical Trials

Prognosis

Research Landscape

Recent Publications

Patient Support

Patient Advocacy Groups

Medical References

External Resources

OMIM

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team