Recruiting

Observational Study

Sponsor:

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

Code:

NCT02769975

Conditions

Adrenal Insufficiency

Growth Disorder

Endocrine Diseases

Metabolic Disease

Bone Diseases, Metabolic

Eligibility Criteria

Sex: All

Age: 0 - 70+

Healthy Volunteers: Not accepted

Study Details

Brief 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

Adrenal Insufficiency

Growth Disorder

Endocrine Diseases

Metabolic Disease

Bone Diseases, Metabolic

Study ID

NCT02769975

Start date

Jul 12, 2016

Status verified date

Jul 31, 2026

Completion date

Dec 31, 2030

Anticipated

Primary completion date

Dec 31, 2030

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0 - 70+

Healthy Volunteers: Not accepted

  • INCLUSION CRITERIA:

In order to be eligible to participate in this study, an individual must meet all of the following criteria:

  • Participants with known or suspected endocrine disorder age 3 months-18 years are eligible for this protocol.
  • Relatives ages 3 months-100 years may be enrolled if clinically indicated for the diagnosis of a proband.

EXCLUSION CRITERIA:

An individual who meets any of the following criteria will be excluded from participation in this study:

  • Lack of suspected endocrine disorders.
  • Any medical, physical, psychiatric, or social conditions, which, in the opinion of the investigators, would make participation in this protocol not in the best interest of the patient, will exclude participation. Patients who are critically ill, unstable, or with severe organ failure that may affect/limit the endocrine evaluation and place unsustainable demands on Clinical Center or NICHD resources will be excluded.

Study Design

Enrollment

15000 participants

Anticipated

Interventions and Outcome Measures

Arms

Case Only

Children ages 3 months to 100 with known or suspected endocrine or metabolism disorders. Family members ages 3 months to 100. They may participate in the DNA part of the study

Primary outcome measure

  • Provide an option for patients with unusual or challenging endocrine or metabolic conditions, who may or may not be eligible for an existing research protocol, to be evaluated at NIH. [ Time Frame: Baseline ]
  • Recruit a diverse population of pediatric subjects with a known or suspected endocrine or metabolic disorder in order to provide NICHD investigators and trainees with hands-on experience related to the diagnosis, management, treatment, and follo... [ Time Frame: Baseline ]

Central Contacts and Locations

Central contacts

Harinder D Raipuria, C.R.N.P.

(301) 254-2982harinder.raipuria@nih.gov

Catherine M Gordon, M.D.

(301) 827-5449catherine.gordon@nih.gov

Locations

National Institutes of Health Clinical Center

Recruiting

Bethesda, Maryland, United States, 20892

Contacts

For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)

800-411-1222prpl@cc.nih.gov

More Information

Sponsor

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

Last update posted

Aug 13, 2026

Last verified

Jul 31, 2026

Keywords

  • Endocrinology
  • Obesity
  • Pediatric
  • Growth Disorder
  • Pubertal Development

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) on 2026-08-13.