Genetic Diagnosis in Inherited Neurological Disorders
This study aims to evaluate and diagnose inherited neurological disorders by observing participants and collecting genetic information to improve understanding and future research.
Data Collection
Musculoskeletal Diseases+8
+ Congenital, Hereditary, and Neonatal Diseases and Abnormalities
+ Nervous System Diseases
Family-Based
Studying health outcomes within families in order to identify genetic or familial contributions to disease.Summary
Study start date: February 18, 2000
Actual date on which the first participant was enrolled.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.
Protocol
This section provides details of the study plan, including how the study is designed and what the study is measuring.3500 patients to be enrolled
Total number of participants that the clinical trial aims to recruit.Family-Based
Eligibility
Researchers look for people who fit a certain description, called eligibility criteria: person's general health condition or prior treatments.Any sex
Biological sex of participants that are eligible to enroll.From 2 to 120 Years
Range of ages for which participants are eligible to join.Healthy volunteers not allowed
If individuals who are healthy and do not have the condition being studied can participate.Conditions
Pathology
Criteria
* 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. INCLUSION CRITERIA: 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. 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.
Study Plan
Find out more about all the medication administered in this study, their detailed description and what they involve.One single intervention group is designated in this study
This study does not include a placebo group
Treatment Groups
Study Objectives
Primary Objectives
Study Centers
These are the hospitals, clinics, or research facilities where the trial is being conducted. You can find the location closest to you and its status.This study has 2 locations
National Institutes of Health Clinical Center
Bethesda, United StatesOpen National Institutes of Health Clinical Center in Google MapsUniversity of Mali
Bamako, Mali