Stiff Person Syndrome Spectrum Disorders Global Registry

The SPSD Global Registry collects natural history study (NHS) data about individuals with confirmed or suspected stiff person syndrome spectrum disorders (SPSD), with the goal of improving the understanding of SPSD, advancing research and informing treatment development. The study objectives of the Registry are:

• To provide a convenient online platform for Participants (or their authorized representatives) to self-report diagnoses documented by a physician of definite or suspected (probable or possible) Stiff Person Syndrome Spectrum Disorders (SPSD);
• To develop a contact registry within the SPSD Global Registry (e.g., to notify Participants of research studies and clinical trials);
• To characterize and describe the population affected by SPSD as a whole, enhancing the understanding of disease prevalence, phenotype, and the rate of progression of signs and symptoms over time;
• To identify symptoms most impactful to daily living for patients;
• To better understand the misdiagnosis of SPSD;
• To support standard diagnostic criteria research initiatives for SPSD;
• To encourage and support research collaborations; and
• To help the SPSD community develop recommendations and standards of care.

Registry questionnaires were built from common data element standards and cover the following topics:

• Eligibility (confirmed or suspected SPSD)
• Socio-demographics
• Lifestyle
• Family History
• Medical History
• Women’s Health
• SPSD Diagnosis and Testing
• Research and Biorepository
• SPSD Symptoms
• SPSD Treatments
• Quality of life
• Medical Records Uploads

The Registry also integrates with The SPSRF’s SPSD diagnostic criteria and biorepository research initiatives. The NHS can provide real-world data reported first-hand from patients and their LARs to inform research on standardizing diagnostic criteria for SPSD. Participants’ information can also be shared via interoperable data sets and GUIDs to link biosamples with clinical data. The Foundation partners with COMBINEDBrain to obtain blood donations from patients and controls to conduct plasma and Peripheral Blood Mononuclear Cell analysis.

The SPSRF is interested in collaborating on research initiatives and sharing data with you! If you would like access to the SPSD Global Registry data for a research project, please contact our registry administrator at spsddglobalregistry@stiffperson.org