Autism Spectrum Disorder Clinical Trial
Official title:
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.
Status | Recruiting |
Enrollment | 5000 |
Est. completion date | January 1, 2029 |
Est. primary completion date | January 1, 2029 |
Accepts healthy volunteers | No |
Gender | All |
Age group | N/A and older |
Eligibility | - 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 |
Country | Name | City | State |
---|---|---|---|
United States | National Institutes of Health Clinical Center | Bethesda | Maryland |
Lead Sponsor | Collaborator |
---|---|
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) |
United States,
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | Recruit Patients with Suspected or diagnosed genetic diseases | observational/exploratory suspected or diagnosed genetic diseases | Ongoing |
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