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Protocol Details

Evaluation of Children with Endocrine and Metabolic-Related Conditions

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number

16-CH-0113

Sponsoring Institute

National Institute of Child Health and Human Development (NICHD)

Recruitment Detail

Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: 3 Mo
Max Age: 100 Years

Referral Letter Required

No

Population Exclusion(s)

None

Keywords

Endocrinology;
Obesity;
Pediatric;
Growth Disorder;
Pubertal Development

Recruitment Keyword(s)

None

Condition(s)

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

Investigational Drug(s)

None

Investigational Device(s)

None

Intervention(s)

None

Supporting Site

National Institute of Child Health and Human Development

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.

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Eligibility

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.


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Citations:

Not Provided

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Contacts:

Principal Investigator

Referral Contact

For more information:

Catherine M. Gordon, M.D.
National Institute of Child Health and Human Development (NICHD)
NIHBC 10 - CRC BG RM 5-2583
10 CENTER DR
BETHESDA MD 20892
(301) 827-5449
catherine.gordon@nih.gov

Harinder D. Raipuria, C.R.N.P.
National Institute of Child Health and Human Development (NICHD)
NIHBC 10 - CRC BG RM 5-2571
10 CENTER DR
BETHESDA MD 20892
(301) 496-8368
harinder.raipuria@nih.gov

Office of Patient Recruitment
National Institutes of Health Clinical Center (CC)
Building 61, 10 Cloister Court
Bethesda, Maryland 20892
Toll Free: 1-800-411-1222
Local Phone: 301-451-4383
TTY: TTY Users Dial 7-1-1
ccopr@nih.gov

Clinical Trials Number:

NCT02769975

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