Ignite Creation Date:
2024-05-05 @ 11:25 AM
Last Modification Date:
2024-10-26 @ 9:07 AM
Study NCT ID:
NCT00030940
Status:
COMPLETED
Last Update Posted:
2017-07-02
First Post:
2002-02-14
Brief Title:
Cause Development and Progression of Stiff-Person Syndrome
Sponsor:
National Institute of Neurological Disorders and Stroke NINDS
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Natural History and Immunopathogenesis of Stiff Person Syndrome SPS
Status:
COMPLETED
Status Verified Date:
2007-12-28
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
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
Lack of serum anti-GAD antibodies
Have very advanced disease that precludes traveling
Have severe cardiovascular renal or other end-organ-disease states
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
Physical and neurological examinations and review of symptoms every visit
Blood draw for routine tests and for research studies every visit
Stiffness assessment every visit - Patients are asked a series of questions about their stiffness which physicians rate according to the number of stiff areas eg 0-no stiff areas 1-stiffness of the lower trunk 2-stiffness of the upper trunk etc
Lymphapheresis at the beginning of the study and at 12 months - This is a procedure for collecting large quantities of white blood cells A needle is placed in a vein in the arm Blood flows from the vein through a plastic tube catheter into a machine that spins the blood separating it into its components The white blood cells lymphocytes are removed and the rest of the blood-plasma red cells and platelets-is returned to the body through a second needle placed in the other arm
Electrophysiologic studies - These studies include electromyography and nerve conduction testing For electromyography a small needle is inserted into a few muscles and the patient is asked to relax or to contract the muscles The electrical activity of the muscle cells is recorded and analyzed by a computer For nerve conduction testing nerves are stimulated through small wire electrodes attached to the skin and the response is recorded and analyzed
Lumbar puncture at the beginning of the study and at 12 months - This procedure is done to examine the cerebrospinal fluid CSF which bathes the brain and spinal cord After a local anesthetic is administered a needle is inserted in the space between the bones in the lower back where the CSF circulates below the spinal cord About 2 tablespoons of fluid is collected through the needle
Patients of any age with SPS may be eligible for this study except those who
Lack of serum anti-GAD antibodies
Have very advanced disease that precludes traveling
Have severe cardiovascular renal or other end-organ-disease states
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
Physical and neurological examinations and review of symptoms every visit
Blood draw for routine tests and for research studies every visit
Stiffness assessment every visit - Patients are asked a series of questions about their stiffness which physicians rate according to the number of stiff areas eg 0-no stiff areas 1-stiffness of the lower trunk 2-stiffness of the upper trunk etc
Lymphapheresis at the beginning of the study and at 12 months - This is a procedure for collecting large quantities of white blood cells A needle is placed in a vein in the arm Blood flows from the vein through a plastic tube catheter into a machine that spins the blood separating it into its components The white blood cells lymphocytes are removed and the rest of the blood-plasma red cells and platelets-is returned to the body through a second needle placed in the other arm
Electrophysiologic studies - These studies include electromyography and nerve conduction testing For electromyography a small needle is inserted into a few muscles and the patient is asked to relax or to contract the muscles The electrical activity of the muscle cells is recorded and analyzed by a computer For nerve conduction testing nerves are stimulated through small wire electrodes attached to the skin and the response is recorded and analyzed
Lumbar puncture at the beginning of the study and at 12 months - This procedure is done to examine the cerebrospinal fluid CSF which bathes the brain and spinal cord After a local anesthetic is administered a needle is inserted in the space between the bones in the lower back where the CSF circulates below the spinal cord About 2 tablespoons of fluid is collected through the needle
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 Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 02-N-0122 | None | None | None |