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Pediatric Patients With Metabolic or Other Genetic Disorders

NCT02769949 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 96

Last updated 2025-12-02

No results posted yet for this study

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

Sponsors & Collaborators

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

    lead NIH

Principal Investigators

  • Forbes D Porter, M.D. · Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

Eligibility

Min Age
1 Year
Max Age
99 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2016-05-03
Primary Completion
2025-07-08
Completion
2025-07-08

Countries

  • United States

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02769949 on ClinicalTrials.gov