Search / Trial NCT00001452

Defining the Genetic Basis for the Development of Primary Pigmented Nodular Adrenocortical Disease (PPNAD) and the Carney Complex

Launched by EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT (NICHD) · Nov 3, 1999

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Trial Information

Current as of March 02, 2024

Completed

Keywords

Cushing's Syndrome Genetics Pituitary Adenoma Ppnad Carney Complex Natural History

Description

Primary pigmented nodular adrenocortical disease (PPNAD) is a pituitary-independent, primary adrenal form of hypercortisolism characterized by (a) resistance to suppression by dexamethasone and abolition of the normal diurnal rhythm of cortisol secretion, and (b) distinctive, bilateral, histopathologic changes of the adrenal glands, such as the formation of variably sized, pigmented nodular adenomas, loss of normal zonation and atrophy of the extranodular cortex. PPNAD can be associated with a variety of other manifestations, such as myxomas of the skin, heart, breast and other sites, psamm...

Gender

All

Eligibility criteria

  • INCLUSION CRITERIA:
  • All patients with PPNAD and/or Carney Complex by history and their siblings, children and parents. Additional relatives and their families that are suspected to have the same disorder on clinical grounds will be recruited:
  • PPNAD patients will be included if their diagnosis is fully documented. First-degree relatives of patients with the disease will be accepted also for evaluation, or if already conclusively evaluated elsewhere, for DNA linkage analysis only.
  • Patients with suspected Carney complex will be accepted for evaluation and/or DNA analysis for linkage, if they have at least two of the following:
  • cardiac myxoma
  • cutaneous myxoma
  • breast myxoma
  • oral myxoma
  • myxoma of the external ear
  • spotty mucocutaneous pigmentation (lentigines)
  • testicular tumor
  • pituitary growth hormone secreting adenoma
  • nerve tumor, such as psammomatous melanotic schwannoma
  • first-, second-, or third-degree relatives with Carney complex
  • (c) Patients with one of the familial lentiginosis syndromes: Peutz-Jeghers and LEOPARD syndrome, other forms of familial lentiginosis.
  • EXCLUSION CRITERIA:
  • For DNA analysis and linkage study:
  • 1. Unwillingness to participate.
  • For clinical evaluation and DNA analysis/linkage study:
  • Patients with major illnesses, such as severe renal failure, restrictive or obstructive lung disease, cardiac disease, anemia and/or terminal cancer that will not be able to undergo appropriate testing or the stress of hospitalization. Also, patients with Carney complex and a known heart tumor (heart myxoma) will not be able to enter the clinical part of the study until after surgical treatment of their tumor. These patients, however, will be asked to participate in the DNA analysis study.

Attachments

readout_NCT00001452_2024-03-02.pdf

4.5 MB

NCT00001452_study_protocol.pdf

4.5 MB

About company

The National Institute of Allergy and Infectious Diseases (NIAID, /ˈnaɪ.æd/) is one of the 27 institutes and centers that make up the National Institutes of Health (NIH), an agency of the United States Department of Health and Human Services (HHS). NIAID's mission is to conduct basic and applied research to better understand, treat, and prevent infectious, immunologic, and allergic diseases.

Contacts

JC

Jennifer Cobb

Immunology at National Institute of Allergy and Infectious Diseases (NIAID)

Locations

Bethesda, Maryland, United States

Bethesda, Maryland, United States

People applied

Timeline

First submit

Trial launched

Trial updated

Estimated completion

This is an ongoing project

Reviews (48)

4.6

All reviews come from applied patients

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Leslie Alexander
20 September 2023

Duis aute irure dolor in reprehenderit in voluptate velit esse cillum dolore eu fugiat nulla pariatur. Excepteur sint occaecat cupidatat non proident, sunt in culpa qui officia deserunt mollit anim id est laborum?

Michael Foster
20 September 2023

Duis aute irure dolor in reprehenderit in voluptate velit esse cillum dolore eu fugiat nulla pariatur. Excepteur sint occaecat cupidatat non proident, sunt in culpa qui officia deserunt mollit anim id est laborum?

Dries Vincent
20 September 2023

Duis aute irure dolor in reprehenderit in voluptate velit esse cillum dolore eu fugiat nulla pariatur. Excepteur sint occaecat cupidatat non proident, sunt in culpa qui officia deserunt mollit anim id est laborum?

Leslie Alexander
20 September 2023

Duis aute irure dolor in reprehenderit in voluptate velit esse cillum dolore eu fugiat nulla pariatur. Excepteur sint occaecat cupidatat non proident, sunt in culpa qui officia deserunt mollit anim id est laborum?

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