Actively Recruiting
Clinical and Genetic Study of Tumors and Disorders of the Pituitary and Hypothalamus in Children and Adults
Led by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) · Updated on 2026-08-04
2000
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers are studying tumors of the hypothalamic-pituitary unit in children and adults aged 2 to 70 years, aiming to understand the genetic causes and developmental pathways involved in pituitary gland tumors. This observational study also serves as a training protocol for fellows and students to learn about genetic defects, tumor recognition, management, and complications. The study includes research on new MRI tools and psychological effects of cortisol secretion in pediatric patients with Cushing disease. Participants with tumors or related hypothalamic-pituitary disorders undergo various procedures including MRI scans and tissue specimen collection. The study collects peripheral blood samples and tumor tissues for molecular genetic testing and whole exome sequencing. It also evaluates cognitive, psychological, and patient-reported outcomes related to hypercortisolemia and adrenal insufficiency in children with Cushing syndrome. Participants are assessed through imaging studies, biochemical tests, and genetic analysis. The study monitors psychological and cognitive health and collects patient-reported data on mental and social well-being. This protocol also functions as a screening platform for future clinical studies on diagnosis, treatment, and follow-up of pituitary tumors. Participation involves ongoing evaluation with no specified end date, supporting the development of new therapeutic approaches and research in pituitary tumor biology.
CONDITIONS
Brief Title
An Investigation of Pituitary Tumors and Related Hypothalmic Disorders
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Willingness to comply with all study procedures and availability for the study duration
- Male or female aged 2 to 70 years with evidence of a tumor or disorder of the hypothalamic-pituitary unit based on imaging or biochemical tests
- Family members of patients with a history of tumors or related disorders in the hypothalamic-pituitary unit (any age)
- Members of a family suspected of inherited neoplasia of the hypothalamic-pituitary unit based on a patient enrolled in this study
- Ability to understand and willingness to sign informed consent
You will not qualify if you...
- Pregnancy, assessed in participants aged 10 to 60 years unless menopause has occurred
- Medical, physical, psychiatric, or social conditions that investigators believe make participation not in the participant's best interest
- Critically ill, unstable patients or those with severe organ failure that may affect endocrine evaluation or study resources
Research Team
K
Ka Wing J Lam
D
Deborah P Merke, M.D.
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