Evaluation of Children With Endocrine and Metabolic-Related Conditions

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.

Study Overview

• Status: Recruiting
• Conditions: Bone Diseases, Metabolic; Adrenal Insufficiency; Metabolic Disease; Endocrine Diseases; Growth Disorder

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.

• Study Type: Observational
• Enrollment (Estimated): 15000

Contacts and Locations

• Study Contact: Name: Margaret F Keil, C.R.N.P.; Phone Number: (301) 435-3391; Email: keilm@mail.nih.gov
• Study Contact Backup: Name: Harinder D Raipuria, C.R.N.P.; Phone Number: (301) 496-8368; Email: harinder.raipuria@nih.gov

Study Locations

• United States
  • Maryland
    • Bethesda, Maryland, United States, 20892
      • Recruiting
      • National Institutes of Health Clinical Center
      • Contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR); Phone Number: TTY8664111010 800-411-1222; Email: prpl@cc.nih.gov

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 3 months to 100 years (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

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 to advance the clinical skills of physicians participating in NICHD clinical research and training programs, and to provide stimuli for new clinical research initiatives.

Description

• 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 Plan

How is the study designed?

Design Details

• Observational Models: Case-Only
• Time Perspectives: Other

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort
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

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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.	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.	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...	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 follow-up of p	Baseline

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
All studies or procedures (other than biospecimens/DNA) that are not clinically indicated need to be explicitly described in the protocol or approved by amendment.	All studies or procedures (other than biospecimens/DNA) that are not clinically indicated need to be explicitly described in the protocol or approved by amendment.	Ongoing
Any prospective (including pilot investigations) or retrospective hypothesis driven research for patients enrolled in this protocol must be approved by the NICHD Office of the Clinical Director and NICHD IRB.	Any prospective (including pilot investigations) or retrospective hypothesis driven research for patients enrolled in this protocol must be approved by the NICHD Office of the Clinical Director and NICHD IRB.	Ongoing
Clinical evaluation of children with unusual or challenging endocrine or metabolic conditions may include whole exome sequencing (WES) or other new molecular technologies to identify the molecular genetic etiology	Clinical evaluation of children with unusual or challenging endocrine or metabolic conditions may include whole exome sequencing (WES) or other new molecular technologies to identify the molecular genetic etiology	Ongoing

Collaborators and Investigators

• Sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
• Investigators: Principal Investigator: Margaret F Keil, C.R.N.P., Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

Publications and helpful links

Helpful Links

• NIH Clinical Center Detailed Web Page

Study record dates

Study Major Dates

• Study Start (Actual): July 12, 2016
• Primary Completion (Estimated): December 31, 2030
• Study Completion (Estimated): December 31, 2030

Study Registration Dates

• First Submitted: May 11, 2016
• First Submitted That Met QC Criteria: May 11, 2016
• First Posted (Estimated): May 12, 2016

Study Record Updates

• Last Update Posted (Actual): March 25, 2024
• Last Update Submitted That Met QC Criteria: March 22, 2024
• Last Verified: March 21, 2024

More Information

Terms related to this study

• Keywords: Obesity; Pubertal Development; Pediatric; Endocrinology; Growth Disorder
• Additional Relevant MeSH Terms: Pathologic Processes; Musculoskeletal Diseases; Adrenal Gland Diseases; Bone Diseases; Bone Diseases, Metabolic; Endocrine System Diseases; Metabolic Diseases; Adrenal Insufficiency; Growth Disorders
• Other Study ID Numbers: 160113; 16-CH-0113

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO
• IPD Plan Description: .The protocol does not address an IPD plan.

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No