Study of Inherited Neurological Disorders
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age2-120
SponsorNational Institute of Neurological Disorders and Stroke (NINDS)
About this trial
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 criteria
This trial does not accept healthy volunteersQualifiers
Participants include those with inherited neurological conditions based on the training and research needs of the Neurogenetics Branch program. There is no logical limit; however the total number of participants that can be enrolled in the protocol will be restricted. No more than 3,500 participants with either diagnosed or undiagnosed neurological conditions and their unaffected relatives will be enrolled in this evaluation and diagnostic protocol.
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.
Disqualifiers
None
Trial population
general population
Trial design
Design model
Family-based
Time perspective
Other
Treatments tested in this trial
Not listed
Trial groups
3,500 Participants
are grouped into 1 trial groupGroup A: Inherited Neurological Patients
Trial outcomes
Primary outcomes
1
Genetic disease identification; Deep phenotyping of rare genetic neurological disorders; Training of fellows and students
The primary objective of this protocol is to provide a resource of participants for enrollment into new research protocols throughout the NGB and other NIH laboratories. Evaluating and diagnosing participants will allow the NGB specialists to maintain their expertise and gain additional knowledge of the course of various neurological disorders. The information obtained will allow for the evaluation and diagnosis of the studied neurological diseases. This understanding may lead to ideas for future protocols. In some cases, blood or other biologic samples (including urine, saliva, or a cheek (buccal) swab) will be obtained for future laboratory studies. No formal outcomes will be measured; however, the clinical assessments of enrolled participants can be used to characterize the disease manifestations.
Time frame
Outcome measures assessed at initial visit and ongoing until a genetic diagnosis is made. Duration of study 15 years (per protocol).Sponsors and contacts
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Source ClinicalTrials.gov