Clinical and Molecular Manifestations of Inherited Neurological Disorders

Status: Recruiting
Location: See all (2) locations...
Study Type: Observational
SUMMARY

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; 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.

Eligibility
Participation Requirements
Sex: All
Minimum Age: 2
Maximum Age: 120
Healthy Volunteers: f
View:

⁃ Participants will be eligible if they:

• Have either a known or suspected, inherited neurological disease, OR are an unaffected relative (first-, second-, third, or higher degree relative) of a participant with a genetic neurological disease.

• Have the ability to understand and sign an informed consent or have a parent/legal guardian to do so if they are minor children or a legal guardian to provide consent for adults without consent capacity.

• Aged 2 years and above.

Locations
United States
Maryland
National Institutes of Health Clinical Center
RECRUITING
Bethesda
Other Locations
Mali
University of Mali
COMPLETED
Bamako
Contact Information
Primary
Alice B Schindler
schindlerab@mail.nih.gov
(301) 496-8969
Backup
Christopher Grunseich, M.D.
grunseichc@mail.nih.gov
(301) 402-5423
Time Frame
Start Date: 2000-02-18
Participants
Target number of participants: 3500
Treatments
Inherited Neurological Patients
Includes individuals and families with a known or unknown inherited neurological condition.
Sponsors
Leads: National Institute of Neurological Disorders and Stroke (NINDS)

This content was sourced from clinicaltrials.gov