Pediatric Patients With Metabolic or Other 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.
To recruit a diverse group of pediatric subjects with genetic disorders. To give clinic staff hands-on experience working with these patients.
Children any age with a known or suspected genetic disorder.
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:
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
Participants may have follow-up visits. They may get medical or surgical treatment.
Autism Spectrum Disorder
Fragile X Syndrome
|Study Design:||Observational Model: Other
Time Perspective: Other
|Official Title:||Studies of Pediatric Patients With Metabolic or Other Genetic Disorders|
- Recruit Patients with Suspected or Siagnosed genetic diseases [ Time Frame: Ongoing ]
|Study Start Date:||April 27, 2016|
|Estimated Study Completion Date:||December 31, 2036|
|Estimated Primary Completion Date:||December 31, 2036 (Final data collection date for primary outcome measure)|
Please refer to this study by its ClinicalTrials.gov identifier: NCT02769949
|Contact: Margarita J Raygada, Ph.D.||(301) email@example.com|
|United States, Maryland|
|National Institutes of Health Clinical Center||Recruiting|
|Bethesda, Maryland, United States, 20892|
|Contact: For more information at the NIH Clinical Center contact Patient Recruitment and Public Liaison Office (PRPL) 800-411-1222 ext TTY8664111010 firstname.lastname@example.org|
|Principal Investigator:||Margarita J Raygada, Ph.D.||Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)|