Pediatric Patients With Metabolic or Other Genetic Disorders

NCT02769949 | Completed

• 2 other identifiers: 16010316-CH-0103
• Study Type: observational
• Target: 96
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Genetic Disorder; Asperger Disorder; Autism Spectrum Disorder; Fragile X Syndrome; Developmental Delay

Keywords

Genetics; Metabolic; Dysmorphic Syndromes; Developmental Delay; Genetic Counseling; Natural History

Outcome Measures

Primary Outcomes (1)

• Recruit Patients with Suspected or diagnosed genetic diseases

  observational/exploratory suspected or diagnosed genetic diseases

  Ongoing

Study Arms (2)

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

Participants with genetic disorders

Eligibility Criteria

• Age: 1 Year - 99 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Community dwelling participants with genetic disorders

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

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

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

Location

Related Publications (1)

• Abdennadher M, Inati SK, Rahhal S, Khan O, Bartolini L, Thurm A, Theodore W, Miller JS, Porter FD, Bianconi S. Characterization of seizures and EEG findings in creatine transporter deficiency due to SLC6A8 mutation. Am J Med Genet A. 2024 Feb;194(2):337-345. doi: 10.1002/ajmg.a.63418. Epub 2023 Oct 18.

  PMID: 37850681 DERIVED

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

Genetic Diseases, Inborn; Asperger Syndrome; Autism Spectrum Disorder; Fragile X Syndrome; Learning Disabilities

Condition Hierarchy (Ancestors)

Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Child Development Disorders, Pervasive; Neurodevelopmental Disorders; Mental Disorders; X-Linked Intellectual Disability; Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Sex Chromosome Disorders; Chromosome Disorders; Congenital Abnormalities; Genetic Diseases, X-Linked; Heredodegenerative Disorders, Nervous System; Communication Disorders; Signs and Symptoms; Pathological Conditions, Signs and Symptoms

Study Officials

• Forbes D Porter, M.D.

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

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: OTHER
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 11, 2016
• First Posted: May 12, 2016
• Study Start: May 3, 2016
• Primary Completion: July 8, 2025
• Study Completion: July 8, 2025
• Last Updated: December 2, 2025

Record last verified: 2025-09-24

Locations

US (1)