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Sponsored by: |
National Institute of Neurological Disorders and Stroke (NINDS) |
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Information provided by: | National Institutes of Health Clinical Center (CC) |
ClinicalTrials.gov Identifier: | NCT00132366 |
This study will measure brain excitability in patients with succinic semialdehyde dehydrogenase (SSADH) deficiency, and in their parents. SSADH is a rare inherited disease in which changes in certain brain chemicals affect brain cell activity. Symptoms vary greatly among patients, and may include mental retardation, impaired ability to coordinate movements, and delays in language and speech development. Other symptoms may include poor muscle tone, uncontrolled seizures and other neurological or behavioral abnormalities. Test findings in patients and their parents will be compared with those of healthy normal volunteers.
The following individuals may be eligible for this study: patients with SSADH who are between 5 and 24 years of age; parents of patients who are between 18 and 55 years of age; healthy normal children who are between 10 and 17 years of age; and healthy normal adults who are between 18 and 55 years of age. Candidates are screened with blood and urine tests.
All participants undergo the following:
In addition to the above, patients and their parents may also undergo the following tests:
Condition |
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Succinic Semialdehyde Dehydrogenase Deficiency Diseases |
Study Type: | Observational |
Official Title: | Cortical Excitability in Succinic Semialdehyde Dehydrogenase Deficiency |
Estimated Enrollment: | 60 |
Study Start Date: | August 2005 |
Objective: To study cortical excitability, electroencephalography patterns, nerve conduction velocity, and sleep patterns, in succinic semialdehyde dehydrogenase (SSADH) deficiency, a rare autosomal recessive pediatric neurotransmitter disease associated with elevated levels of brain gamma aminobutyric acid (GABA), the major inhibitory neurotransmitter. The clinical phenotype includes mental retardation, epilepsy, and neuropsychiatric manifestations.
Study Population: Patients with SSADH deficiency, parents of patients (who are obligate heterozygotes), and healthy volunteers.
Design: This is a natural history study in which subjects will have a series of neurophysiological tests. Transcranial magnetic stimulation (TMS) is a non-invasive technique that allows for measures of cortical excitation and inhibition. Electroencephalography (EEG) measures baseline brain electrical activity. Nerve conduction studies measure the speed of conduction of impulses by peripheral nerves. Polysomnography records sleep cycles and associated eye movements, muscle potentials, heart rate, and respiration.
Outcome measures: Motor cortex excitability threshold, paired pulse facilitation, and paired pulse inhibition on TMS will be the main outcome measures. Values will be compared across the 4 groups of patients, carriers, adult and child healthy volunteers. Additional measures will include nerve conduction velocity, EEG frequency, and sleep patterns.
Ages Eligible for Study: | 5 Years to 55 Years |
Genders Eligible for Study: | Both |
Accepts Healthy Volunteers: | Yes |
Patients
Patients will be aged 5-24
Parents will be aged 18-55
Adult Healthy Volunteers will be aged 18-55
Child Healthy Volunteers will be aged 10-17
EXCLUSION CRITERIA
Contact: Patient Recruitment and Public Liaison Office | (800) 411-1222 | prpl@mail.cc.nih.gov |
Contact: TTY | 1-866-411-1010 |
United States, District of Columbia | |
Childrens National Medical Center | Recruiting |
Washington, District of Columbia, United States |
Study ID Numbers: | 050224, 05-N-0224 |
Study First Received: | August 18, 2005 |
Last Updated: | July 18, 2008 |
ClinicalTrials.gov Identifier: | NCT00132366 |
Health Authority: | United States: Federal Government |
Neurotransmission Cortical Excitability GABA Seizures |
Succinic Semialdehyde Dehydrogenase Deficiency SSADH Healthy Volunteer HV |
Seizures Healthy |