Actively Recruiting

Age: 2Years - 70Years
All Genders
Healthy Volunteers
ID00001595

A Clinical and Genetic Investigation of Pituitary and Hypothalamic Tumors and Related Disorders

Led by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) · Updated on 2026-06-01

2000

Participants Needed

1

Research Sites

N/A

Total Duration

On this page

AI-Summary

What this Trial Is About

Researchers are investigating tumors affecting the hypothalamic-pituitary unit in children and adults aged 2 to 70 years. The study aims to identify genetic factors involved in the development of these pituitary tumors and related disorders, as well as to develop new clinical studies for their recognition and treatment. It also explores the psychological effects of cortisol secretion in children with Cushing disease and seeks to understand inheritance patterns and associations with other family conditions. Participants undergo procedures including tissue specimen collection and MRI scans to study the molecular genetics of tumors and related developmental pathways. This observational protocol serves as a screening and training platform for medical fellows and students and supports the development of future clinical trials focused on diagnosis and therapy of pituitary tumors. During the study, participants provide peripheral blood and tumor tissue samples for molecular genetic testing. Researchers assess cognitive, psychological, and patient-reported health outcomes related to hypercortisolemia and adrenal insufficiency. The study also monitors clinical and genetic features of pituitary tumors and collects data on mental and social well-being. Participation involves ongoing assessments and follow-up to support future research and clinical care improvements.

CONDITIONS

Brief Title

An Investigation of Pituitary Tumors and Related Hypothalmic Disorders

Who Can Participate

Age: 2Years - 70Years
All Genders
Healthy Volunteers

Eligibility Criteria

Eligible

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 a tumor or related disorder of the hypothalamic-pituitary unit confirmed by imaging or biochemical tests
  • Family members of patients with tumors or related disorders of the hypothalamic-pituitary unit of any age as part of the study linkage
  • Members of families suspected of inherited pituitary or hypothalamic tumors or related disorders
  • Ability to understand and sign informed consent or have a legally authorized representative do so
Not Eligible

You will not qualify if you...

  • Pregnancy in participants of reproductive age (10 to 60 years) unless menopause is confirmed
  • Any medical, physical, psychiatric, or social condition that the investigators believe makes participation not in the participant's best interest
  • Critically ill, unstable patients, or those with severe organ failure that limits endocrine evaluation or study resource use

AI-Screening

AI-Powered Screening

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Your Study Journey

Screening

Duration - 2 to 4 weeks

Participants are screened for eligibility to participate in the trial.

Diagnostic Evaluation

Duration - Varies based on individual evaluation

Participants undergo MRI scans and tissue specimen collection to evaluate tumors of the hypothalamic-pituitary unit and related genetic components.

1 or more visits for imaging and specimen collection depending on clinical needs

Long-term Monitoring

Duration - Ongoing during the study period

Participants are observed over time to evaluate cognitive, psychological, and patient-reported health status related to pituitary tumors and associated disorders.

Trial Site Locations

Total: 1 location

1

National Institutes of Health Clinical Center

Bethesda, Maryland, United States, 20892

Actively Recruiting

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Research Team

K

Ka Wing J Lam

D

Deborah P Merke, M.D.

How is the study designed?

Study Type

OBSERVATIONAL

Masking

N/A

Allocation

N/A

Model

N/A

Primary Purpose

N/A

Number of Arms

1

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Published Research Related To This Trial

Carney complex, a familial multiple neoplasia and lentiginosis syndrome. Analysis of 11 kindreds and linkage to the short arm of chromosome 2.

C A Stratakis, J A Carney, J P Lin...

https://pubmed.ncbi.nlm.nih.gov/8609225

Distinguishing benign from pathogenic duplications involving GPR101 and VGLL1-adjacent enhancers in the clinical setting with the bioinformatic tool POSTRE.

Giampaolo Trivellin, Víctor Sánchez-Gaya, Alexia Grasso...

https://pubmed.ncbi.nlm.nih.gov/41540017

Body Composition and Fat Deposition in Children with Cushing Disease and Associations with Cardiometabolic Risk Factors.

Yetunde B Omotosho, James C Reynolds, Jack A Yanovski...

https://pubmed.ncbi.nlm.nih.gov/41349930

Genetic evaluation of pediatric pituitary adenomas and USP8-related genotype-phenotype correlations in Cushing's disease.

Rida Zainab, Sukhvir Kaur, Justin Lack...

https://pubmed.ncbi.nlm.nih.gov/40813536

Rare Germline DICER1 Variants in Pediatric Patients With Cushing's Disease: What Is Their Role?

Idoia Martínez de LaPiscina, Laura C Hernández-Ramírez, Nancy Portillo...

https://pubmed.ncbi.nlm.nih.gov/32714280