The Stiff Person Syndrome Research Foundation

Cycle 2

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Stiff Person Syndrome (SPS) is a neurological disease with autoimmune features. Symptoms include muscle spasms, hyper-rigidity, debilitating pain, and chronic anxiety. Muscle spasms can be so violent they can dislocate joints and even break bones.

Last updated 04/30/2026

Clinical

Disease Class

Neurological diseases

Body Systems

Muscular / Skeletal

Nervous / Sensory

Organs

Muscles

Known Genetic Link

No, the disease is not known to have a genetic basis

Causative Genes

None specified / unknown

Contributory Genes

None specified / unknown

Type of Inheritance

Not specified / unknown

Newborn Screening

Not applicable

Disease Mechanism(s)

Unknown

Age of Onset

Adolescence (12-17)

Adulthood (age 18-64)

Early childhood (age 1+-5)

Elderly (age 65+)

Middle childhood (6-11)

Average Age at Diagnosis

Adulthood (age 18-64)

Life Expectancy

Adulthood (age 18-64)

Elderly (age 65+)

Affected Sex(es)

Female

Male

National Prevalence

1001-10000

Global Prevalence

Unknown

National Incidence

Less than 10

Global Incidence

Less than 10

Populations and/or ancestry with higher prevalence

Some evidence suggest a higher than average prevalence/incidence rate in African Americans

Symptoms / Phenotypes

anemia

diabetes

muscle stiffness

spasticity

thyroiditis

vitamin deficiency

vitiligo

Biomarkers

Diagnostic

· The most common IgG biomarker detected in the Stiff Person Syndrome Spectrum is GAD65 antibody; however, glycine receptor (GlyRa1), DPPX, and amphiphysin antibodies are also found.

Existing Therapies

Off-Label Drug Use

Therapies in Development

Cellular therapies (stem cell transplants, CAR-T therapies, etc.)

Gene therapy

Immunotherapy

Therapeutic Development Stages

In clinical trials (Phase I, II, III, or IV)

Therapeutic Development Role

Focus group participation or coordination

Recruitment and outreach to patients

Recruitment and outreach to trial sites / physicians

Organizational & Research

Cell Lines

None

Cell Lines, Institution

None

Cell Lines, share

N/A

Disease Model

None

Disease Model, share

N/A

Organizational Challenges

Unknown

Clinical Trial Role

Recruitment and outreach, patients

Study material design, review (not protocol)

Clinical Trial Types

Phase 1

Biobank, Institution

COMBINEDBrain

Biobank, Involvement

Consulted

Funded

Center of Excellence, Institution

Johns Hopkins Hospital

Center of Excellence, Involvement

Funded

Registry

Yes, we have a registry that we created

Data Collected, Registry

Electronic health records/electronic medical records

Longitudinal natural history data

Patient contact info

Patient-reported data

Data Entered by, Registry

Patients

Platform, Registry

IAMRARE

Natural History Study

Yes, we have a natural history study that we created

Data Collected, Natural History Study

Clinical endpoints (outcomes)

Electronic health records/electronic medical records

Genetic data

Imaging data

Medication usage

Patient-reported outcomes

Prospective data

Retrospective data

Platform, Natural History Study

IAMRARE

FDA Patient Listening Session

We have taken formal steps to schedule a meeting

FDA Patient-Focused Drug Development (PFDD) Program

ICD Codes

Yes, we have an ICD-10 code specific to our exact disease

Diagnostic Guidelines

In the process of creating formal diagnostic guidelines for publication in a peer-reviewed journal

Science Advisory Board Policies

Yes, willing to share SAB policies

Research Network Policies

Does not have a CRN

Patient Priority Survey

Research Roadmap

We don't have a Research Roadmap

None