Evaluating Pediatric Patients with Genetic Disorders
Evaluation of Patients With Genetic Disorders
National Institutes of Health Clinical Center (CC) · NCT02769949
This study is looking for children with genetic disorders to help clinic staff learn more while also providing them with medical check-ups and possible treatments.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 5000 (estimated) |
| Ages | 1 Year to 99 Years |
| Sex | All |
| Sponsor | National Institutes of Health Clinical Center (CC) (nih) |
| Locations | 1 site (Bethesda, Maryland) |
| Trial ID | NCT02769949 on ClinicalTrials.gov |
What this trial studies
This observational study aims to recruit a diverse group of pediatric patients with known or suspected genetic disorders to provide hands-on experience for clinic staff. Participants will undergo a thorough medical history review, physical examinations, and may have various lab tests and imaging studies performed. The study seeks to generate hypotheses and collect biospecimens for future research while also allowing for clinical evaluations and potential treatments at the NIH. Family members may also be enrolled to provide additional genetic insights.
Who should consider this trial
Good fit: Ideal candidates include children of any age with known or suspected genetic disorders.
Not a fit: Patients with medical, psychiatric, or social conditions that may complicate participation or increase risk may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could enhance understanding and management of genetic disorders in pediatric patients.
How similar studies have performed: Other studies involving genetic evaluations in pediatric populations have shown promise, indicating that this approach could yield valuable insights.
Eligibility criteria
Show full inclusion / exclusion criteria
* INCLUSION CRITERIA: * Subjects of any age with known or suspected genetic disorder * 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
Where this trial is running
Bethesda, Maryland
- National Institutes of Health Clinical Center — Bethesda, Maryland, United States (RECRUITING)
Study contacts
- Principal investigator: Forbes D Porter, M.D. — Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- Study coordinator: Desiree A Labor, C.R.N.P.
- Email: desiree.labor@nih.gov
- Phone: (240) 678-7868
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions: Genetic Disorder, Asperger Disorder, Autism Spectrum Disorder, Fragile X Syndrome, Developmental Delay, Genetics, Metabolic, Dysmorphic Syndromes