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

  • STATUS
    Recruiting
  • participants needed
    2000
  • sponsor
    Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Updated on 14 September 2022
pituitary
craniopharyngioma
linkage analysis
cushing's syndrome
central nervous system tumors
Accepts healthy volunteers

Summary

There is a variety of tumors affecting the pituitary gland in childhood; some of these tumors (eg craniopharyngioma) are included among the most common central nervous system tumors in childhood. The gene(s) involved in the pathogenesis of these tumors are largely not known; their possible association with other developmental defects or inheritance pattern(s) has not been investigated. The present study serves as a (i) screening/training, and, (ii) a research protocol.

As a screening and training study, this protocol allows our Institute to admit children with tumors of the hypothalamic-pituitary unit to the pediatric endocrine clinics and wards of the NIH Clinical Center for the purposes of

(i)<TAB>training our fellows and students in the identification of genetic defects associated with pituitary tumor formation, and

(ii)<TAB>teaching our fellows and students the recognition, management and complications of pituitary tumors

As a research study, this protocol aims at

(i)<TAB>developing new clinical studies for the recognition and therapy of pituitary tumors; as an example, two new studies have emerged within the context of this protocol: (a) investigation of a new research magnetic resonance imaging (MRI) tool and its usefulness in the identification of pituitary tumors, and (b) investigation of the psychological effects of cortisol secretion in pediatric patients with Cushing disease. Continuation of this protocol will eventually lead to new, separate protocols that will address all aspects of diagnosis of pituitary tumors and their therapy in childhood.

(ii)<TAB>Identifying the genetic components of pituitary oncogenesis; those will be investigated by (a) studying the inheritance pattern of pituitary tumors in childhood and their possible association with other conditions in the families of the patients, and (ii) collecting tumor tissues and examining their molecular genetics. As with the clinical studies, the present protocol may help generate ideas for future studies on the treatment and clinical follow up of pediatric patients with tumors of the pituitary gland and, thus, lead to the development of better therapeutic regimens for these neoplasms.

Description

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 DNA 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 evaluate the cognitive, psychological, and patient-reported health status of mental and social well-being and symptoms of adrenal insufficiency associated with Cushing syndrome in children with this disease.

Endpoints

<TAB>

Primary Endpoint:

Molecular genetic testing, whole exome sequencing

Secondary Endpoints:

Pre-post treatment comparison of research variables related to pituitary/hypothalamic tumors and comorbidities.

Cognitive, behavioral, psychological, and patient-reported outcomes

Details
Condition Panhypopituitarism, Gigantism/Acromegaly, Prolactinoma, Cushing Disease
Clinical Study IdentifierNCT00001595
SponsorEunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Last Modified on14 September 2022

Eligibility

Yes No Not Sure

Inclusion Criteria

Stated willingness to comply with all study procedures and availability for the duration of the study
Male or female, aged 3 years to 70 years
Evidence for the existence of a tumor of the hypothalamic-pituitary unit, as indicated by previously obtained imaging studies or biochemical investigation of the hypothalamohypophyseal function
Family members (any age) of patients with a family history of tumors and who will agree to participate in the DNA/linkage analysis study
Member of a kindred suspected of having an inherited form of pituitary neoplasia, as evidenced by results of a patient enrolled in this protocol
Ability of subject or Legally Authorized Representative (LAR)) to understand and the willingness to sign a written informed consent document

Exclusion Criteria

Pregnancy
Clear my responses

How to participate?

Step 1 Connect with a study center
What happens next?
  • You can expect the study team to contact you via email or phone in the next few days.
  • Sign up as volunteer to help accelerate the development of new treatments and to get notified about similar trials.

You are contacting

Investigator Avatar

Primary Contact

site

0/250

Additional screening procedures may be conducted by the study team before you can be confirmed eligible to participate.

Learn more

If you are confirmed eligible after full screening, you will be required to understand and sign the informed consent if you decide to enroll in the study. Once enrolled you may be asked to make scheduled visits over a period of time.

Learn more

Complete your scheduled study participation activities and then you are done. You may receive summary of study results if provided by the sponsor.

Learn more

Similar trials to consider

Loading...

Browse trials for

Not finding what you're looking for?

Every year hundreds of thousands of volunteers step forward to participate in research. Sign up as a volunteer and receive email notifications when clinical trials are posted in the medical category of interest to you.

Sign up as volunteer

user name

Added by • 

 • 

Private

Reply by • Private
Loading...

Lorem ipsum dolor sit amet consectetur, adipisicing elit. Ipsa vel nobis alias. Quae eveniet velit voluptate quo doloribus maxime et dicta in sequi, corporis quod. Ea, dolor eius? Dolore, vel!

  The passcode will expire in None.
Loading...

No annotations made yet

Add a private note
  • abc Select a piece of text from the left.
  • Add notes visible only to you.
  • Send it to people through a passcode protected link.
Add a private note