Adrenal InsufficiencyNCT02769975
Evaluation of Children With Endocrine and Metabolic-Related Conditions
An observational study of Adrenal Insufficiency and Growth Disorder, run by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 3 months to 100 years
- Conditions the study is for
- Adrenal Insufficiency, Growth Disorder, Endocrine Diseases
- How many people
- 15,000 participants
- Where
- 1 siteUnited States
- Study dates
- 12 Jul 2016to 31 Dec 2030
- Phase
- Observational
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 3 months to 100 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
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.
Who may be able to join
- 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.
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR), 800-411-1222 ext. TTY8664111010, prpl@cc.nih.gov
About this study
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.
Read more
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.
Read the 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
- Keywords
- Endocrinology, Obesity, Pediatric, Growth Disorder, Pubertal Development
- Medical subject headings
- Adrenal Insufficiency, Growth Disorders, Endocrine System Diseases, Metabolic Diseases, Bone Diseases, Metabolic, Obesity
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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 being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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
Measured: Baseline
Secondary outcomes (3)
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.
Measured: 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.
Measured: 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
Measured: Ongoing
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted12 May 2016 (estimated)
- Study start12 Jul 2016
- Primary completion31 Dec 2030 (estimated)
- Study completion31 Dec 2030 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Adrenal InsufficiencyStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Other
- Enrolment
- 15,000 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Catherine M Gordon, M.D., Principal investigator, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02769975
- Sponsor's protocol ID
- 160113
- Other IDs
- 16-CH-0113
- Status last verified
- 19 Oct 2026
- First submitted
- 11 May 2016
- Last updated
- 21 Oct 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: The protocol does not address an IPD plan.