Evaluation of Children With Endocrine and Metabolic-Related Conditions

NCT ID: NCT02769975

Last Updated: 2025-09-24

Basic Information

• Recruitment Status: RECRUITING
• Total Enrollment: 15000 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2016-07-12
• Study Completion Date: 2030-12-31

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.

Detailed Description

Study Description:

This protocol is designed to allow endocrine-related evaluations of children with known or suspected endocrine or metabolic disorders.

Children with endocrine or metabolic-related condition(s) who may or may not be eligible for a specific NICHD research protocol, may be evaluated under the auspices of this protocol. Standard clinically indicated laboratory or radiological studies may be performed to confirm a diagnosis or to aid in the management of the patient. In some cases, the child participant may receive medical or surgical treatment for their disorder at the National Institutes of Health (NIH) Clinical Center (CC) according to current clinical practice. Family members of children evaluated on this protocol (who have informative meiotic inheritance relationships to the proband or index case) may be enrolled in the genetic/DNA testing part of the protocol.

Objectives:

Primary Objective:

-Comprehensive evaluation of pediatric endocrine diseases and conditions as well as track natural progress of the development of such

conditions in diverse population of pediatric subjects with a known or suspected endocrine or metabolic disorder.

Secondary Objective:

-Samples for molecular genetic or WES testing

Endpoints:

Primary Endpoint:

Appraisal of number and diversity of endocrine related diagnosis of patients evaluated on this protocol.

Secondary Endpoints:

-Number of samples for molecular genetic or WES testing.

Conditions

Adrenal Insufficiency; Growth Disorder; Endocrine Diseases; Metabolic Disease; Bone Diseases, Metabolic

Study Design

• Observational Model Type: CASE_ONLY
• Study Time Perspective: OTHER

Study Groups

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

No interventions assigned to this group

Eligibility Criteria

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.

• Minimum Eligible Age: 3 Months
• Maximum Eligible Age: 100 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

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

NIH

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Catherine M Gordon, M.D.

Role: PRINCIPAL_INVESTIGATOR

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

Locations

National Institutes of Health Clinical Center

Bethesda, Maryland, United States

Site Status: RECRUITING

Countries

United States

Central Contacts

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

Role: CONTACT

harinder.raipuria@nih.gov

(301) 254-2982

Catherine M Gordon, M.D.

Role: CONTACT

catherine.gordon@nih.gov

(301) 827-5449

Facility Contacts

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

Role: primary

prpl@cc.nih.gov

800-411-1222 ext. TTY8664111010

Related Links

https://clinicalstudies.info.nih.gov/cgi/detail.cgi?A_2016-CH-0113.html

NIH Clinical Center Detailed Web Page

Other Identifiers

16-CH-0113

Identifier Type: -

Identifier Source: secondary_id

160113

Identifier Type: -

Identifier Source: org_study_id