Completed

NCT Number: NCT02769949

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.

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.

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Key information

Conditions

Genetic Disorder Asperger Disorder Asperger Syndrome Autism Spectrum Disorder Child Development Disorders, Pervasive Chromosome Disorders Communication Disorders Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Developmental Delay Fragile X Syndrome Genetic Diseases, Inborn Genetic Diseases, X-Linked Heredodegenerative Disorders, Nervous System Intellectual Disability Learning Disabilities Mental Disorders Nervous System Diseases Neurobehavioral Manifestations Neurodevelopmental Disorders Neurologic Manifestations Pathological Conditions, Signs and Symptoms Sex Chromosome Disorders Signs and Symptoms X-Linked Intellectual Disability

Age range

1 year–99 year

Sex eligibility

All sexes

Study type

Observational

Primary location

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

About this study

The aim of this protocol is to allow genetic-related evaluations for patients with a variety of known or suspected genetic disorders.) If not eligible for a specific NICHD research protocol, patients with genetic-related conditions may be evaluated under the auspices of this protocol to provide stimuli for new clinical research initiatives. Standard medically-indicated laboratory or radiological studies may be performed to confirm a diagnosis or to aid in the management of the patient. Clinical data and excess biospecimens collected as part of clinical care will be analyzed for research purposes. In some cases, the subjects may receive medical or surgical treatment for their disorder at the NIH CC according to current clinical practice. The overall purpose of genetic evaluations under this protocol is to support our research missions, generate hypotheses bank specimens for analysis or future use as controls. Family members of subjects evaluated on this protocol (who have informative meiotic inheritance relationships to the proband or index case) may also be enrolled.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

Recruit Patients with Suspected or diagnosed genetic diseases

Time frame: Ongoing

observational/exploratory suspected or diagnosed genetic diseases

Sponsors and collaborators

Lead sponsor

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

Nih

Registry information

Official study title

Evaluation of Patients With Genetic Disorders

Important dates

Study start: 2016
Primary completion: 2025
Study completion: 2025
First posted: May 12, 2016
Registry last updated: Dec 2, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed