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Study of Inherited Neurological Disorders
This study is currently recruiting participants.
Verified by National Institutes of Health Clinical Center (CC), January 2009
First Received: February 11, 2000   Last Updated: April 24, 2009   History of Changes
Sponsored by: 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

Genetics Home Reference related topics: Friedreich ataxia Marinesco-Sjögren syndrome
MedlinePlus related topics: Muscle Disorders Muscular Dystrophy Neurologic Diseases Peripheral Nerve Disorders
U.S. FDA Resources
Study Type: Observational
Official Title: Clinical and Molecular Manifestations of Inherited Neurological Disorders

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

Estimated Enrollment: 1500
Study Start Date: February 2000
Detailed Description:

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
Criteria
  • INCLUSION CRITERIA:

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.

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
Please refer to this study by its ClinicalTrials.gov identifier: NCT00004568

Contacts
Contact: Patient Recruitment and Public Liaison Office (800) 411-1222 prpl@mail.cc.nih.gov
Contact: TTY 1-866-411-1010

Locations
United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike Recruiting
Bethesda, Maryland, United States, 20892
Mali
Point G Hospital Recruiting
Bamako, Mali
Sponsors and Collaborators
  More Information

Additional Information:
No publications provided

Study ID Numbers: 000043, 00-N-0043
Study First Received: February 11, 2000
Last Updated: April 24, 2009
ClinicalTrials.gov Identifier: NCT00004568     History of Changes
Health Authority: United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):
Peripheral Neuropathies
Myopathy
Muscular Dystrophy
Motor Neuron Disease
Spinocerebellar Degeneration
Neurological Disorders

Study placed in the following topic categories:
Neurodegenerative Diseases
Muscular Dystrophies
Muscular Diseases
Musculoskeletal Diseases
Neuromuscular Diseases
Muscular Disorders, Atrophic
Genetic Diseases, Inborn
Peripheral Nervous System Diseases
Ataxia
Atrophy
Motor Neuron Disease
Spinocerebellar Degenerations
Degenerative Motor System Disease
Muscular Dystrophy

Additional relevant MeSH terms:
Muscular Dystrophies
Muscular Diseases
Genetic Diseases, Inborn
Muscular Disorders, Atrophic
Neuromuscular Diseases
Musculoskeletal Diseases
Peripheral Nervous System Diseases
Nervous System Diseases
Neurodegenerative Diseases
Motor Neuron Disease

ClinicalTrials.gov processed this record on May 07, 2009