Evaluation of Children With Endocrine and Metabolic-Related Conditions

Part of paid clinical trials in Bethesda, Maryland.

Sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Study ID
NCT02769975
Status
Recruiting
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Conditions

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

Eligibility Criteria

Sex
ALL
Age
3 Months - 100 Years
Healthy Volunteers
Not accepted

Study Details

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.

Key Dates

Start date
Jul 12, 2016
Status verified
Sep 2025
Primary completion
Dec 31, 2030
Completion
Dec 31, 2030

Study Design

Enrollment
15,000 participants (estimated)

Arms

  • Arm: 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 ]

Central Contacts

Locations (1)

FacilityCityStateZIPSite coordinators
National Institutes of Health Clinical CenterBethesdaMaryland20892
For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)
[email protected]
800-411-1222

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By research site
National Institutes of Health Clinical Center· Bethesda, MD

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