Trial record 2 of 6 for:    Stiff-Person Syndrome

Cause, Development, and Progression of Stiff-Person Syndrome

This study has been completed.
Sponsor:
Information provided by:
National Institutes of Health Clinical Center (CC)
ClinicalTrials.gov Identifier:
NCT00030940
First received: February 14, 2002
Last updated: March 5, 2008
Last verified: December 2007
  Purpose

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 (e.g., 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.

Condition
Stiff-Person Syndrome

Study Type: Observational
Official Title: Natural History and Immunopathogenesis of Stiff Person Syndrome (SPS)

Resource links provided by NLM:


Further study details as provided by National Institutes of Health Clinical Center (CC):

Estimated Enrollment: 40
Study Start Date: February 2002
Estimated Study Completion Date: December 2007
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.

  Eligibility

Ages Eligible for Study:   25 Years to 80 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Criteria
  • INCLUSION CRITERIA:

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.

  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00030940

Locations
United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States, 20892
United States, Pennsylvania
Thomas Jefferson University
Philadelphia, Pennsylvania, United States, 19107-6541
Sponsors and Collaborators
  More Information

Publications:
ClinicalTrials.gov Identifier: NCT00030940     History of Changes
Other Study ID Numbers: 020122, 02-N-0122
Study First Received: February 14, 2002
Last Updated: March 5, 2008
Health Authority: United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):
Antigenic Epitopes
Glutamic Acid Decarboxylase (GAD)
Auto-antibodies
Stiffness Index
SPS
Anti-GAD
MR Spectroscopy
GAD
Stiff Person Syndrome

Additional relevant MeSH terms:
Stiff-Person Syndrome
Syndrome
Autoimmune Diseases
Autoimmune Diseases of the Nervous System
Central Nervous System Diseases
Disease
Immune System Diseases
Nervous System Diseases
Neuromuscular Diseases
Pathologic Processes
Spinal Cord Diseases

ClinicalTrials.gov processed this record on October 23, 2014