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Evaluation of Children With Endocrine and Metabolic-Related Conditions

NCT02769975 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 15000

Last updated 2026-04-24

No results posted yet for this study

Summary

Background:

Endocrine glands give off hormones. Researchers want to learn more about the disorders that affect these glands in children. These disorders might be caused by changes in genes. Genes contain DNA, which is the blueprint of how a cell works. Researchers want to identify the genes involved in endocrine and metabolic disorders. This might help develop new ways to diagnose and treat the disorders.

Objective:

To study the inheritance of endocrine or metabolism disorders.

Eligibility:

Children ages 3month-18 with known or suspected endocrine or metabolism disorders.

Family members ages 3months-100. They may participate in the DNA part of the study.

Design:

Participants will be screened with a review of their medical records. Their parents or guardians will allow the records to be released.

Participants will have a clinic visit. This may include a physical exam and medical history.

Parents or guardians will give their consent for the study. Participants may have tests, surgery, or other procedures to help diagnose or treat their condition. These could include:

Blood, urine, and saliva tests

Growth hormone test

Pituitary and adrenal function tests

Picture of chromosomes

Imaging tests. These may include X-ray, ultrasound, scans, or a skeletal survey.

Genetic tests

Sleep study

Medical photographs

If surgery is done, a tissue sample will be taken.

Participants may have follow-up visits for diagnosis and treatment.

Participating relatives will have one visit. This will include medical history and blood and saliva tests. The blood and saliva will be used for DNA testing.

Conditions

Sponsors & Collaborators

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

    lead NIH

Principal Investigators

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

Eligibility

Min Age
3 Months
Max Age
100 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2016-07-12
Primary Completion
2030-12-31
Completion
2030-12-31

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 NCT02769975 on ClinicalTrials.gov