Cause, Development, and Progression of Stiff-Person Syndrome
Tracking Information | |
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First Received Date ICMJE | February 14, 2002 |
Last Updated Date | March 5, 2008 |
Start Date ICMJE | February 2002 |
Primary Completion Date | |
Current Primary Outcome Measures ICMJE | |
Original Primary Outcome Measures ICMJE | |
Change History | Complete list of historical versions of study NCT00030940 on ClinicalTrials.gov Archive Site |
Current Secondary Outcome Measures ICMJE | |
Original Secondary Outcome Measures ICMJE | |
Current Other Outcome Measures ICMJE | |
Original Other Outcome Measures ICMJE | |
Descriptive Information | |
Brief Title ICMJE | Cause, Development, and Progression of Stiff-Person Syndrome |
Official Title ICMJE | Natural History and Immunopathogenesis of Stiff Person Syndrome (SPS) |
Brief Summary | This study will explore the role of various immune factors involved in producing the disease symptoms in stiff-person syndrome (SPS) and follow disease progression in patients. SPS is a progressive disease in which unexpected noises, touches or stressful events set off muscle spasms and stiffness. It is thought to be an autoimmune disease in which the body produces antibodies that attack certain healthy tissues. A better understanding of the disease may help researchers design new therapies. Patients of any age with SPS may be eligible for this study, except those who:
Candidates will be screened with a medical history and physical and neurological examinations to confirm the diagnosis of SPS. After screening, those enrolled in the study will be followed at the NIH Clinical Center every 6 months for 2 years (months 6, 12, 18, and 24) to have the following tests and procedures:
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Detailed Description | Stiff-person syndrome (SPS) is a progressive neurological disorder characterized by stiffness of the trunk or limb muscles and frequent muscle spasms induced by unexpected visual, auditory, or somatosensory stimuli. It is an incapacitating disorder that leads to recurrent falls and impaired ambulation. The cause of the disease is unknown but an autoimmune pathogenesis is implicated based on its association with other autoimmune diseases and auto-antibodies, specific HLA haplotypes and high titer antibodies against GAD, the rate-limiting enzyme for the synthesis of GABA. Understanding the autoimmune mechanisms of SPS is fundamental to refine the diagnostic criteria and develop specific therapies. The goals of this study are: a) define the natural history of SPS in a homogeneous cohort of patients, b) explore a pathogenetic link between SPS and viral infections based on the known peptide homology between GAD and certain viruses and c) establish GAD-specific T-cell clones and search for candidate antigenic epitopes using synthetic peptide libraries. Collected clinical data will be used to delineate the rate of disease progression and the frequency of association with other autoimmune illnesses, auto-antibodies, or malignancies. It is anticipated that the knowledge acquired from the study will help us understand the mechanism of the disease and design antigen-specific therapeutic strategies. This is an investigative study intended to define the natural history and pathogenesis of SPS. No new therapy will be provided except of standard care. |
Study Type ICMJE | Observational |
Study Design ICMJE | |
Biospecimen | |
Sampling Method | |
Study Population | |
Condition ICMJE | Stiff-Person Syndrome |
Intervention ICMJE | |
Study Group/Cohort (s) | |
Publications * | Dalakas MC, Fujii M, Li M, McElroy B. The clinical spectrum of anti-GAD antibody-positive patients with stiff-person syndrome. Neurology. 2000 Nov 28;55(10):1531-5. |
* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline. |
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Recruitment Information | |
Recruitment Status ICMJE | Completed |
Enrollment ICMJE | 40 |
Completion Date | December 2007 |
Primary Completion Date | |
Eligibility Criteria ICMJE |
All patients who fulfill the recently revised clinical criteria for SPS. EXCLUSION CRITERIA: Lack of anti-GAD antibodies in the serum; Very advanced disease state that precludes traveling; Severe cardiovascular, renal, or other end-organ-disease states. |
Gender | Both |
Ages | 25 Years to 80 Years |
Accepts Healthy Volunteers | No |
Contacts ICMJE | Contact information is only displayed when the study is recruiting subjects |
Location Countries ICMJE | United States |
Administrative Information | |
NCT Number ICMJE | NCT00030940 |
Other Study ID Numbers ICMJE | 020122, 02-N-0122 |
Has Data Monitoring Committee | |
Responsible Party | |
Study Sponsor ICMJE | National Institute of Neurological Disorders and Stroke (NINDS) |
Collaborators ICMJE | |
Investigators ICMJE | |
Information Provided By | National Institutes of Health Clinical Center (CC) |
Verification Date | December 2007 |
ICMJE Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP |