Phenotype/Genotype Correlations in Movement Disorders
ConditionMovement Disorder
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age2-100
SponsorNational Institute of Neurological Disorders and Stroke (NINDS)
About this trial
The goal of this protocol is to identify families with inherited movement disorders and evaluate disease manifestations to establish an accurate clinical diagnosis by using newest technological advances and investigate the underlying molecular mechanisms. Studies of inherited movement disorders in large families with good genealogical records are especially valuable. 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 a hope of contributing to the identification of specific disease-causing genes and genetic mechanisms responsible for a specific disorder.
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
Individuals with suspected movement disorders
Family members of movement disorders patients
Ability to give informed consent or have a legally authorized representative able to give consent (for adults without consent capacity) or parent/guardian able to provide informed consent (for a child)
If unable to give informed consent, ability to give assent (for children or adults without consent capacity)
Disqualifiers
Pregnant women
Children less than 2 years of age
Employees of the Parkinson's Disease Clinic, NINDS
Presence of metal in subject s body which would make having an MRI scan unsafe, such as pacemakers, stimulators, pumps, aneurysm clips, metallic prostheses, artificial heart valves, cochlear implants or shrapnel fragments, or if subject was a welder or metal worker, since small metal fragments in the eye may be present.
Trial population
Subjects older than 2 years old with movement disorders and their family members will be enrolled. Patients with diseases of known molecular basis will be genotyped in order to investigate phenotype/genotype correlations. Patients with disease of unknown or incomplete genetic characterization will be studied with a hope of contributing to the identification of specific disease-causing genes and genetic mechanisms and/or peripheral bio-signatures involved in a particular disorder.
Trial design
Design model
Case-only
Time perspective
Prospective
Treatments tested in this trial
Not listed
Trial groups
2,500 Participants
are grouped into 3 trial groupsGroup A: Patients 1
Group B: Patients 2
Group C: Subjects
Trial outcomes
Primary outcomes
1
The primary outcome measure is the phenotypic and genotypic characterizations of patients and family members with movement disorders.
Characterizations to determine their eligibility for inclusion in other NIH protocols.
Time frame
10 YearsSecondary outcomes
1
Identification of disease-specific biomarkers in stem cells derived from patient peripheral blood mononuclear cells or fibroblast lines
Time frame
Study end2
Identification of new genes and/or peripheral blood biomarkers associated with movement disorders
Time frame
Study end3
Identification of new genes and/or peripheral blood biomarkers associated with movement disorders.
Time frame
Study end4
Establishment of a clinical diagnosis (when possible)
Time frame
Study endSponsors and contacts
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Source ClinicalTrials.gov