Clinical and Molecular Manifestations of Inherited Neurological Disorders
Study Purpose:
This study is designed to learn more about the natural history of inherited neurological disorders and the role of heredity in their development. 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.
Disease:
Familial ALSStudy Type:
Observational StudyStudy Category:
Biomarkers/ImagingStudy Status:
EnrollingPhase:
Not ApplicableStudy Chair(s)/Principal Investigator(s):
Principle Investigator (National Institute of Neurological Disorders and Stroke)
Clinicaltrials.gov ID (11 digit #):
NCT00004568Neals Affiliated?
NoCoordinating Center Contact Information
National Institutes of Health Clinical CenterAlice B Schindler / .(JavaScript must be enabled to view this email address) / 301-496-8969
Christopher Grunseich, M.D. / .(JavaScript must be enabled to view this email address) / 301-402-5423
9000 Rockville Pike
Bethesda, Maryland 20892 United States
Full Study Summary:
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.
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.