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 May 2024

Clinical
Disease Class
Rare immunological diseases
Rare neurological diseases
Body Systems
Muscular / Skeletal
Nervous / Sensory
Organs
Muscles
Genes
GLRA1
Type of Inheritance
Not specified / unknown
Disease Mechanism(s)
Autoimmune
Age of Onset
Adulthood (age 18-64)
Incidence
Less than 10
Prevalence
101-1000
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
Alternative treatments (eg. nutritional supplements)
· medical marijuana, nutritional supplements, dietary adjustments, aqua therapy, physical therapy
Drugs approved for the symptoms
Drugs used off-label
· immunotherapy: IVIG
Other
· Plasmapheresis, Rituximab, Botox
Organizational & Research
Cell Lines
Not specified / unknown
Cell Lines, location
Not specified
Cell Lines, share
N/A
Disease Model
None
Disease Model, location
None
Disease Model, share
N/A
Clinical Trial Role
Not involved
Biobank
None
Center of Excellence
None
Registry
No, we do not have a registry, but we plan to create one
Natural History Study
No, we do not have a natural history study, but we plan to create or collaborate on one
FDA Patient Listening Session
No
FDA Patient-Focused Drug Development (PFDD) Program
No
ICD Codes
Yes, we have an ICD-10 code specific to our exact disease
Yes, we have an ICD-11 code specific to our exact disease
Diagnostic Guidelines
In the process of creating diagnostic guidelines
Clinical/Treatment Guidelines
No
Organizational Roles
No full-time staff
Science Advisory Board Policies
Yes, willing to share SAB policies
Research Network Policies
Does not have a CRN
Research Roadmap
We don't have a Research Roadmap
International Chapters
None
International Partners
None