- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT02769949
Pediatric Patients With Metabolic or Other Genetic Disorders
Evaluation of Patients With Genetic Disorders
Background: Some patients with unusual genetic conditions are referred to the National Institutes of Health (NIH). They may not be eligible to join current research studies. Testing such patients is a good way to improve the skills of research staff. The findings could lead to new processes and research.
Objectives:
To recruit a diverse group of pediatric subjects with genetic disorders. To give clinic staff hands-on experience working with these patients.
Eligibility:
Children any age with a known or suspected genetic disorder.
Design:
Participants will be screened with medical history and physical exam. They may have lab and other tests.
Family members may give DNA samples.
Participants will have:
Medical history
Physical exam
Height, weight, and other measurements taken.
A clinical evaluation of their disorder.
They may have:
Blood, urine, and saliva samples taken
Imaging tests. These may include x-rays, scans, ultrasound, or skeletal survey.
A sleep study
A visit with other specialists at NIH
A genetic test from a commercial lab
Medical photographs taken
Other tests
Participants may have follow-up visits. They may get medical or surgical treatment.
Study Overview
Status
Detailed Description
Study Type
Enrollment (Estimated)
Contacts and Locations
Study Contact
- Name: John R Perreault, C.R.N.P.
- Phone Number: (301) 827-9235
- Email: john.perreault@nih.gov
Study Locations
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Maryland
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Bethesda, Maryland, United States, 20892
- Recruiting
- National Institutes of Health Clinical Center
-
Contact:
- For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)
- Phone Number: TTY8664111010 800-411-1222
- Email: prpl@cc.nih.gov
-
-
Participation Criteria
Eligibility Criteria
Ages Eligible for Study
- Child
- Adult
- Older Adult
Accepts Healthy Volunteers
Sampling Method
Study Population
Description
- INCLUSION CRITERIA:
- Subjects of any age with known or suspected genetic disorder
- Subjects determined by a study investigator to be appropriate for clinical training
- Subject engaged in care with a community-based healthcare provider
For relatives of subjects with a genetic disorder:
- Subject is a family member of the proband
EXCLUSION CRITERIA:
-Presence of a medical, psychiatric, or social condition which, in the opinion of the investigator, would place undue burden on the subject, NIH resources, or increase risk of participation
Study Plan
How is the study designed?
Design Details
- Observational Models: Other
- Time Perspectives: Other
Cohorts and Interventions
Group / Cohort |
---|
Family members
Family members (adult and pediatric; affected and unaffected) may be enrolled for the purpose of determining the molecular lesion(s) responsible for genetic disorders.
|
Genetic disorders
subjects with genetic disorders
|
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Recruit Patients with Suspected or diagnosed genetic diseases
Time Frame: Ongoing
|
observational/exploratory suspected or diagnosed genetic diseases
|
Ongoing
|
Collaborators and Investigators
Investigators
- Principal Investigator: John R Perreault, C.R.N.P., Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Publications and helpful links
Helpful Links
Study record dates
Study Major Dates
Study Start (Actual)
Primary Completion (Estimated)
Study Completion (Estimated)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Estimated)
Study Record Updates
Last Update Posted (Estimated)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Keywords
Additional Relevant MeSH Terms
- Mental Disorders
- Nervous System Diseases
- Neurologic Manifestations
- Neurobehavioral Manifestations
- Congenital Abnormalities
- Genetic Diseases, X-Linked
- Mental Retardation, X-Linked
- Intellectual Disability
- Heredodegenerative Disorders, Nervous System
- Neurodevelopmental Disorders
- Child Development Disorders, Pervasive
- Chromosome Disorders
- Sex Chromosome Disorders
- Autism Spectrum Disorder
- Fragile X Syndrome
- Genetic Diseases, Inborn
- Asperger Syndrome
Other Study ID Numbers
- 160103
- 16-CH-0103
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Studies a U.S. FDA-regulated device product
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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