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Protocol Details

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

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number

97-CH-0076

Sponsoring Institute

National Institute of Child Health and Human Development (NICHD)

Recruitment Detail

Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: 3
Max Age: 70

Referral Letter Required

Yes

Population Exclusion(s)

None

Special Instructions

Currently Not Provided

Keywords

Developmental Defect;
Oncogenesis;
Evaluation and Management;
Psychological;
Cushing Disease

Recruitment Keyword(s)

None

Condition(s)

Panhypopituitarism;
Gigantism/Acromegaly;
Prolactinoma;
Cushing Disease

Investigational Drug(s)

None

Investigational Device(s)

None

Intervention(s)

None

Supporting Site

National Institute of Child Health and Human Development

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.

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Eligibility

INCLUSION CRITERIA:

-Patients eligible for the study (3- 70 years old).

-Evidence for the existence of a tumor of the hypothalamic-pituitary unit, as indicated by previously obtained imaging studies or biochemical investigation of the hypothalamo-hypophyseal function.

-Patients may withdraw from the study at any time.

-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 studied under A

(above).

EXCLUSION CRITERIA:

-Children younger than 3 years can not be admitted and treated at the NIH Clinical Center due to lack of specialized infant and small children units; likewise older patients may not be admitted due to lack of appropriate geriatric care.

-Eligibility Checklist based on inclusion/exclusion criteria is included as an attachment.


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Citations:

Trivellin G, Daly AF, Faucz FR, Yuan B, Rostomyan L, Larco DO, Schernthaner-Reiter MH, Szarek E, Leal LF, Caberg JH, Castermans E, Villa C, Dimopoulos A, Chittiboina P, Xekouki P, Shah N, Metzger D, Lysy PA, Ferrante E, Strebkova N, Mazerkina N, Zatelli MC, Lodish M, Horvath A, de Alexandre RB, Manning AD, Levy I, Keil MF, Sierra Mde L, Palmeira L, Coppieters W, Georges M, Naves LA, Jamar M, Bours V, Wu TJ, Choong CS, Bertherat J, Chanson P, Kamenick(SqrRoot)(Omega) P, Farrell WE, Barlier A, Quezado M, Bjelobaba I, Stojilkovic SS, Wess J, Costanzi S, Liu P, Lupski JR, Beckers A, Stratakis CA. Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation. N Engl J Med. 2014 Dec 18;371(25):2363-74. doi: 10.1056/NEJMoa1408028. Epub 2014 Dec 3.

Stratakis CA, Carney JA, Lin JP, Papanicolaou DA, Karl M, Kastner DL, Pras E, Chrousos GP. Carney complex, a familial multiple neoplasia and lentiginosis syndrome. Analysis of 11 kindreds and linkage to the short arm of chromosome 2. J Clin Invest. 1996 Feb 1;97(3):699-705.

Magiakou MA, Mastorakos G, Oldfield EH, Gomez MT, Doppman JL, Cutler GB Jr, Nieman LK, Chrousos GP. Cushing's syndrome in children and adolescents. Presentation, diagnosis, and therapy. N Engl J Med. 1994 Sep 8;331(10):629-36.

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Contacts:

Principal Investigator

Referral Contact

For more information:

Constantine A. Stratakis, M.D.
National Institute of Child Health and Human Development (NICHD)
BG 31 RM 2A46
31 CENTER DR
BETHESDA MD 20814
(301) 594-5984
stratakc@mail.nih.gov

Margaret F. Keil, C.R.N.P.
National Institute of Child Health and Human Development (NICHD)
BG 10-CRC RM 1-3330
10 CENTER DR
BETHESDA MD 20814
(301) 435-3391
keilm@mail.nih.gov

Office of Patient Recruitment
National Institutes of Health Clinical Center (CC)
Building 61, 10 Cloister Court
Bethesda, Maryland 20892
Toll Free: 1-800-411-1222
Local Phone: 301-451-4383
TTY: 1-866-411-1010
PRPL@cc.nih.gov

Clinical Trials Number:

NCT00001595

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