|
|
Home
Search
Study Topics
Glossary
|
 |
|
|
|
|
|
|
|
|
|
|
|
|
||||||||||||||||||||||||||||||||||||
| Sponsor: | National Institute of Neurological Disorders and Stroke (NINDS) |
|---|---|
| Information provided by: | National Institutes of Health Clinical Center (CC) |
| ClinicalTrials.gov Identifier: | NCT00004568 |
Purpose
This study is designed to learn more about the natural history of inherited neurological disorders and the role of heredity in their development. It will examine the genetics, symptoms, disease progression, treatment, and psychological and behavioral impact of diseases in the following categories: hereditary peripheral neuropathies; hereditary myopathies; muscular dystrophies; hereditary motor neuron disorders; mitochondrial myopathies; ataxias; hereditary neurocognitive disorders; inherited neurological disorders without known diagnosis; and others. Many of these diseases, which affect the brain, spinal cord, muscles, and nerves, are rare and poorly understood.
Children and adults of all ages with various inherited neurological disorders may be eligible for this study. Participants will undergo a detailed medical and family history, and a family tree will be drawn. They will also have a physical and neurological examination that may include blood test and urine tests, an EEG (brain wave recordings), psychological tests, and speech and language and rehabilitation evaluations. A blood sample or skin biopsy may be taken for genetic testing. Depending on the individual patient's symptoms, imaging tests such as X-rays, CT or MRI scans and muscle and nerve testing may also be done.
Information from this study may provide a better understanding of the genetic underpinnings of these disorders, contributing to improved diagnosis, treatment, and genetic counseling, and perhaps leading to additional studies in these areas.
...
| Condition |
|---|
|
Ataxia Motor Neuron Disease Muscular Disease Muscular Dystrophy Peripheral Nervous System Disease |
| Study Type: | Observational |
| Official Title: | Clinical and Molecular Manifestations of Inherited Neurological Disorders |
| Estimated Enrollment: | 2000 |
| Study Start Date: | February 2000 |
Individuals and their families affected by neurological disorders with a potential genetic basis will be the focus of this screening and repository protocol. The goals of the protocol will be to contribute to both the clinical and molecular understanding of inherited neurological disorders. Clinical issues to be addressed will include disease manifestations, natural history, management and psychological/behavioral impact of disease. Patients with diseases of known molecular basis will be genotyped in order to investigate phenotype-genotype correlation. Patients with disease of unknown or incomplete genetic characterization will be studied with hopes of contributing to the identification of specific genes responsible for disease. It is anticipated that additional protocols will be generated from preliminary data gathered in this study. The study will also facilitate the training of fellows and students in neurology, neuroscience and genetics.
Eligibility| Genders Eligible for Study: | Both |
| Accepts Healthy Volunteers: | Yes |
Patients of all ages will be considered for the study. The general health and well being of each potential participant must be sufficient to allow for travel to the NIH, blood drawing, and as indicated, skin or muscle biopsy, pulmonary and cardiac evaluations, physical therapy assessments, and magnetic resonance imaging, studies if necessary under monitored sedation.
In particular, families with more than one affected relative or families with known consanguinity will be sought, as the incidence of a recessive disorder is increased in such a setting.
For the off-site study, the general health and well being of potential patients must be sufficient to allow for travel to the neurology clinic in Bamako, blood drawing, and as indicated, skin, nerve or muscle biopsy, EEG, CT scan, lumbar puncture, and cardiac evaluations.
For the homozygosity study, subjects will have to be healthy and not affected by neurological disease. A buccal sample only will be taken, and those from the Fulani, Sarakole, and Bambara population subsets will not have to travel to the clinic in Bamako. For the urban population subset, patients from another clinic, other than the neurology clinic, will give a buccal sample.
EXCLUSION CRITERIA:
Subjects without a suspected inherited neurological disorder will be excluded from this study.
For positional cloning and the homozygosity study in Mali, samples from healthy controls will be requested.
Contacts and Locations| Contact: Patient Recruitment and Public Liaison Office | (800) 411-1222 | prpl@mail.cc.nih.gov |
| Contact: TTY | 1-866-411-1010 |
| United States, Maryland | |
| National Institutes of Health Clinical Center, 9000 Rockville Pike | Recruiting |
| Bethesda, Maryland, United States, 20892 | |
| Sub-Investigator: Patient Recruitment and Public Liaison Office (PRPL) For more information at the NIH Clinical Center contact | |
| Mali | |
| Point G Hospital | Recruiting |
| Bamako, Mali | |
More Information
| ClinicalTrials.gov Identifier: | NCT00004568 History of Changes |
| Other Study ID Numbers: | 000043, 00-N-0043 |
| Study First Received: | February 11, 2000 |
| Last Updated: | December 22, 2011 |
| Health Authority: | United States: Federal Government |
|
Peripheral Neuropathies Myopathy Muscular Dystrophy |
Motor Neuron Disease Spinocerebellar Degeneration Neurological Disorders |
|
Ataxia Muscular Diseases Muscular Dystrophies Nervous System Diseases Peripheral Nervous System Diseases Motor Neuron Disease Dyskinesias |
Neurologic Manifestations Signs and Symptoms Musculoskeletal Diseases Neuromuscular Diseases Muscular Disorders, Atrophic Genetic Diseases, Inborn Neurodegenerative Diseases |
