Evaluation of Children With Endocrine and Metabolic-Related Conditions

Launched by EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT (NICHD) · May 11, 2016

Keywords

ClinConnect Summary

This clinical trial is focused on understanding conditions that affect the endocrine system, which includes glands that produce hormones in children. Researchers are particularly interested in how these disorders may be linked to genes, as changes in genes can impact how the body functions. By studying these conditions, the goal is to improve ways to diagnose and treat children with issues like adrenal insufficiency, growth disorders, and other metabolic diseases.

To participate in this study, children aged 3 months to 18 years who have known or suspected endocrine or metabolic disorders are eligible. Family members aged 3 months to 100 years can also join if their involvement is needed for genetic testing. Participants can expect to undergo a review of their medical history, physical exams, and possibly some tests like blood and urine tests, imaging scans, or genetic testing. For some, if surgery is needed, a small tissue sample may be taken. This trial is currently recruiting participants and aims to provide valuable insights into these health conditions to enhance future treatments.

Gender

ALL

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.