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

Trial Information

Current as of December 27, 2024

Completed

Keywords

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

ClinConnect Summary

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:
  • 1. 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:
  • 1. 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.
  • 2. 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:
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  • 1. cardiac myxoma
  • 2. cutaneous myxoma
  • 3. breast myxoma
  • 4. oral myxoma
  • 5. myxoma of the external ear
  • 6. spotty mucocutaneous pigmentation (lentigines)
  • 7. testicular tumor
  • 8. pituitary growth hormone secreting adenoma
  • 9. nerve tumor, such as psammomatous melanotic schwannoma
  • 10. 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:
  • 1. For DNA analysis and linkage study:
  • 1. Unwillingness to participate.
  • 2. For clinical evaluation and DNA analysis/linkage study:
  • 1. 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.

Trial Officials

Christina Tatsi, M.D.

Principal Investigator

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

About Eunice Kennedy Shriver National Institute Of Child Health And Human Development (Nichd)

The Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) is a prominent research agency within the National Institutes of Health (NIH), dedicated to advancing the health and well-being of children, families, and individuals across the lifespan. NICHD supports a wide range of clinical trials and research initiatives aimed at understanding the complex biological, behavioral, and environmental factors that influence human development and health. By fostering innovative research and facilitating collaboration among scientists, healthcare professionals, and communities, NICHD plays a vital role in translating scientific discoveries into effective interventions and policies that enhance child health, reproductive health, and the prevention of diseases.

Locations

Bethesda, Maryland, United States

Bethesda, Maryland, United States

People applied

Timeline

First submit

Trial launched

Trial updated

Estimated completion

Not reported

Discussion 0

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