An observational study in Motor Neuron Disease, Muscular Disease and Muscular Dystrophy, sponsored by National Institute of Neurological Disorders and Stroke (NINDS). Recruiting at 2 sites in 2 countries. Open to participants aged 2 Years to 120 Years. Per ClinicalTrials.gov, last updated 2026-10-27.
Sponsored by National Institute of Neurological Disorders and Stroke (NINDS) · Observational
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.
The Neurogenetics Branch (NGB) within the National Institute of Neurological Disorders and Stroke (NINDS) is conducting a study to evaluate and provide genetic diagnosis to participants with various diagnosed and undiagnosed neurological conditions.
OBJECTIVES:
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, cheek (buccal) swab, skin biopsy and muscle biopsy) will be obtained for future laboratory studies.
STUDY POPULATION
The number of participants to be enrolled will be set to 3,500 participants with neurological diseases and their unaffected relatives.
DESIGN:
This is an observational diagnostic study of multiple neurological diseases and their progression and pathophysiology.
OUTCOME MEASURES:
No formal outcomes will be measured; however, the clinical assessments of enrolled participants can be used to characterize the disease manifestations. In addition, DNA samples obtained may be used to identify and verify causative mutations as well as identify novel genes, which may help establish pathogenic mechanisms and genotype-phenotype correlations.
224 studies on the registry are indexed under Muscular Dystrophies; 48 are open to participants now.
This study's planned enrollment of 3,500 is above the median of 111 across 74 observational studies indexed under Muscular Dystrophies.
Browse Muscular Dystrophies studies →National Institute of Neurological Disorders and Stroke (NINDS) is the lead sponsor of 601 studies on the registry; 56 are open to participants now.
Of its 18 completed or terminated interventional studies of FDA-regulated products, 8 (44%) have results posted.
Compared within Muscular Dystrophies, this study's primary condition as ClinicalTrials.gg classifies it; the registry's first condition term is Motor Neuron Disease. The counts are of registry records indexed under each term, refreshed daily. How we classify →
general population
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
INCLUSION CRITERIA:
Participants will be eligible if they:
EXCLUSION CRITERIA:
Participants will not be eligible if they:
-Have a systemic disease that compromises the ability to provide adequate neurologic examination or diagnosis. An example of this would be a contagious disease that would compromise our ability to do an adequate neurological exam.
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Includes individuals and families with a known or unknown inherited neurological condition.
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).
Not enrolling at this site.
Plan to share: No
From the registry record's own update history. This site started tracking changes on Sep 25, 2026; for anything earlier, see the record history on ClinicalTrials.gov ↗
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National Institute of Neurological Disorders and Stroke (NINDS) →