Recruiting

Molecular Genetics Investigation of Pituitary and Hypothalamic Tumors and Related Disorders

Study Aim

This study aims to collect blood and tumor tissue samples from individuals with pituitary and hypothalamic tumors, in order to investigate the molecular genetics and understand the developmental pathways leading to these conditions.

What is being collected

Procedure Data

+ procedure Data

Collected from today forward - Prospective

Procedure

Who is being recruted

Adenoma+25

+ Bone Diseases

+ Bone Diseases, Developmental

From 2 to 70 Years

+6 Eligibility Criteria

See all eligibility criteria

How is the trial designed

Cohort

Tracking disease incidence in order to identify risk factors and understand disease progression over time.

Observational

Study Start: April 1997

See protocol details

Summary

Principal SponsorEunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

Study ContactKa Wing J LamMore contacts

Last updated: September 22, 2026

Sourced from a government-validated database.Claim as a partner

Study start date: April 21, 1997

Actual date on which the first participant was enrolled.

Study Description:<TAB> This protocol aims to evaluate subjects with tumors of the hypothalamic pituitary unit to: identify genetic components of pituitary and hypothalamic oncogenesis, to develop new clinical studies for the recognition and therapy of pituitary tumors, and to investigate the psychological effects of cortisol secretion. Objectives:<TAB> Primary Objective: To collect peripheral blood samples and tumor tissues and examine the molecular genetics of the specimens, in an effort to elucidate developmental pathways leading to pituitary gland oncogenesis and/or other defects. Secondary Objectives: To serve as a screening protocol for future studies on the treatment and clinical follow up of our patients with pituitary tumors; it is our hope that the protocol will continue to be a vehicle for the development of more related clinical studies. To collect biospecimens. To evaluate the cognitive, psychological, and patient-reported health status of mental and social well-being and symptoms of hypercortisolemia and adrenal insufficiency (AI) associated with recovery from Cushing syndrome (CS) in children with this disease. Endpoints: <TAB> Primary Endpoint: Molecular genetic testing Secondary Endpoints: Pre- and/or post- treatment assessment of research variables related to pituitary/hypothalamic tumors and comorbidities. Cognitive, behavioral, psychological, and patient-reported outcomes

NCT00001595

Principal SponsorEunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

Study ContactKa Wing J LamMore contacts

Last updated: September 22, 2026

Sourced from a government-validated database.Claim as a partner

Protocol

This section provides details of the study plan, including how the study is designed and what the study is measuring.

Design Details

2000 patients to be enrolled

Total number of participants that the clinical trial aims to recruit.

Cohort

These studies follow a group of individuals with common characteristics (such as a condition or birth year) over a specific period to study health outcomes or exposures.

Eligibility

Researchers look for people who fit a certain description, called eligibility criteria: person's general health condition or prior treatments.

Conditions

Criteria

Any sex

Biological sex of participants that are eligible to enroll.

From 2 to 70 Years

Range of ages for which participants are eligible to join.

Healthy volunteers allowed

If individuals who are healthy and do not have the condition being studied can participate.

Conditions

Pathology

AdenomaBone DiseasesBone Diseases, DevelopmentalBone Diseases, EndocrineBrain DiseasesCentral Nervous System DiseasesEndocrine System DiseasesEndocrine Gland NeoplasmsHyperpituitarismHypothalamic DiseasesMusculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesNeoplasmsNeoplasms by Histologic TypeNeoplasms by SiteNeoplasms, Glandular and EpithelialNeoplastic ProcessesNervous System DiseasesPathologic ProcessesPituitary DiseasesPituitary NeoplasmsPathological Conditions, Signs and SymptomsCongenital AbnormalitiesAcromegalyGigantismProlactinomaPituitary ACTH HypersecretionCarcinogenesis

Criteria

3 inclusion criteria required to participate

Ability of the subject or LAR to understand and the willingness to sign a written informed consent document

Male or female with: Evidence for the existence of a tumor of the hypothalamic-pituitary unit or related disorder, as indicated by previously obtained imaging studies or biochemical investigation of the hypothalamo-hypophyseal function (aged 2 years to 70 years); or Family members (any age) of patients with a family history of tumors of the hypothalamic-pituitary unit or related disorders as part of the linkage part of the study; or Members (any age) of a kindred suspected of having an inherited form of neoplasia of the hypothalamic-pituitary unit or related disorder, as evidenced by results of a patient enrolled in this protocol, as part of the linkage part of the study

Stated willingness to comply with all study procedures and availability for the duration of the study

3 exclusion criteria prevent from participating

Patients who are critically ill, unstable, or with severe organ failure that may affect/limit the endocrine evaluation and place unsustainable demands on CC or NICHD resources may be excluded

Patients with any medical, physical, psychiatric, or social condition, which, in the opinion of the investigators, would make participation in this protocol not in their best interest, will be excluded from the study

Pregnancy: Pregnancy will be evaluated only in participants of reproductive age (from 10 years old until 60 years of age unless menopause has already occurred per clinical report of the participant). For participants enrolled as external participants or under the Linkage study (where research activities include no more than blood draws), any female who could possibly become pregnant will be screened using clinical criteria (history, with pregnancy testing only if indicated) for exclusion and this information will be documented in the consent process note in EMR. If a participant has initially been registered as external location and then presents on-site, then pregnancy test will be performed if within the reproductive age group

Study Plan

Find out more about all the medication administered in this study, their detailed description and what they involve.

Treatment Groups

Study Objectives

One single intervention group is designated in this study

This study does not include a placebo group

Treatment Groups

Study Objectives

Primary Objectives

Secondary Objectives

Study Centers

These are the hospitals, clinics, or research facilities where the trial is being conducted. You can find the location closest to you and its status.

This study has 1 location

Recruiting

National Institutes of Health Clinical Center

Bethesda, United StatesOpen National Institutes of Health Clinical Center in Google Maps

Recruiting

One Study Center