NCT02769949 is a clinical trial in Genetic Disorder, sponsored by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD).

What condition does NCT02769949 study?

NCT02769949 studies Genetic Disorder, Asperger Disorder, Autism Spectrum Disorder, Fragile X Syndrome, Developmental Delay.

Is NCT02769949 still recruiting?

NCT02769949 is currently completed. Last updated 2 December 2025.

Last reviewed 2025-12-02 · How we verify

NCT02769949

Name: Drug Landscape Pharmaceutical Database
Creator: Drug Landscape
Published: 2026-01-01
License: https://creativecommons.org/licenses/by/4.0/

Pediatric Patients With Metabolic or Other Genetic Disorders

Completed Last updated 2 December 2025

What this trial tests

trial in Genetic Disorder in 96 participants. Completed in 8 July 2025.

Timeline

3 May 2016

Primary endpoint
8 July 2025

8 July 2025

Quick facts

Lead sponsor	Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Status	Completed
Study type	OBSERVATIONAL
Enrollment	96
Start date	3 May 2016
Primary completion	8 July 2025
Estimated completion	8 July 2025
Sites	1 location across United States

Conditions studied

Genetic Disorder — all drugs for Genetic Disorder →
Asperger Disorder — all drugs for Asperger Disorder →
Autism Spectrum Disorder — all drugs for Autism Spectrum Disorder →
Fragile X Syndrome — all drugs for Fragile X Syndrome →

Sponsor

Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

Who can join

Adults 1 to 99, any sex, with Genetic Disorder or Asperger Disorder. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

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.

Publications & conference data

2 peer-reviewed publications reference this trial (live from Europe PMC):

Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylation.
Dang Do AN, Chang IJ, Jiang X, Wolfe LA, et al · · 2023 · cited 5× · PMID 36719165 · DOI 10.1002/jimd.12595
Characterization of seizures and EEG findings in creatine transporter deficiency due to SLC6A8 mutation.
Abdennadher M, Inati SK, Rahhal S, Khan O, et al · · 2024 · cited 3× · PMID 37850681 · DOI 10.1002/ajmg.a.63418

Verify or expand the search:

Other recruiting trials for Genetic Disorder

Currently open trials in the same condition.

NCT04743466 — Evaluation of Association Between Testosterone Levels, Dementia, and Adverse Mental Health Outcomes · active not recruiting
NCT05212428 — DNA Sequencing in Clinical Practice, Mayo Clinic Health Tapestry Study · NA · active not recruiting
NCT06898307 — Utility of Gene Test Analysis for Diagnosis, Prognosis and Treatment of Patients With Genetic Arrhythmic Heart Disease: · recruiting
NCT06362473 — Lipid Transport Disorder Italian Genetic Record (LIPIGEN) · recruiting
NCT01851447 — Skeletal Muscle Biomarkers in People With Fragile Sarcolemmal Muscular Dystrophy · active not recruiting

Other Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) trials

Trials by the same sponsor.

NCT07502586 — Turner Syndrome: Genetic Considerations · recruiting
NCT07357701 — Identifying Genome Variants in Non-Obstructive Azoospermia (NOA) or Primary Ovarian Insufficiency (POI) · recruiting
NCT06851754 — Hormone Replacement Therapy in Adolescents With Premature Ovarian Insufficiency · Phase 3 · recruiting
NCT05548881 — Implications of Maternal 45,X Mosaicism as a Secondary Genomic Finding Following Cell-Free DNA Sequencing During Pregnan · withdrawn
NCT06749366 — Uncovering Genes Behind Cartilage Tumors and Vascular Anomalies Using Genomic Sequencing · recruiting

Verify against primary sources

ClinicalTrials.gov — authoritative US registry record
WHO ICTRP — international registry index
EU Clinical Trials Register
Sponsor press releases (Google)

Data sources for this page

Trial protocol + status: ClinicalTrials.gov NCT02769949 (US National Library of Medicine, public domain)
Publications: Europe PMC API search by NCT ID, retrieved 10 June 2026
Drug + disease cross-links: matched in real time against Drug Landscape's normalised drug + company + condition tables
Sponsor: as reported to ClinicalTrials.gov by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Last refreshed: 2 December 2025

Drug Landscape aggregates and links these public records for informational use only. Always verify against the primary source before clinical or regulatory decisions. Canonical URL: https://druglandscape.com/trial/NCT02769949.

Primary sources · FDA · ClinicalTrials.gov · EMA · SEC EDGAR · ChEMBL · Wikidata · full sourcing