Status:

COMPLETED

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

Lead Sponsor:

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

Conditions:

Cushing's Syndrome

Pituitary Adenoma

Eligibility:

All Genders

3-70 years

Brief Summary

Lentiginosis refers to groups of diseases marked by the presence of pigmented spots on the skin. These conditions are most commonly associated with multiple tumors and changes in hormone producing gla...

Detailed 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 abolit...

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.

Key Trial Info

Start Date :

December 14 1995

Trial Type :

OBSERVATIONAL

Allocation :

ACTUAL

End Date :

Estimated Enrollment :

1387 Patients enrolled

Trial Details

Trial ID

NCT00001452

Start Date

December 14 1995

Last Update

May 1 2026

Active Locations (1)

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Page 1 of 1 (1 locations)

1

National Institutes of Health Clinical Center

Bethesda, Maryland, United States, 20892

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