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

NCT00001452 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 1387

Last updated 2026-05-01

No results posted yet for this study

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 glands. The cause of these diseases is unknown, but researchers suggest there may be a level of inheritance involved in their development. Meaning to say that some of these diseases may "run in the family" and be passed down form generation to generation.

Primary pigmented nodular adrenocortical disease (PPNAD) is a pituitary-independent, primary adrenal form of hypercortisolism characterized by;

1. Resistance to suppression by the drug dexamethasone
2. The body is unable to secrete cortisol in a normal rhythm
3. Distinct microscopic changes of both adrenal glands

PPNAD can be associated with tumors (myxomas) of the skin, heart, breast, tumors (swannomas) of the nerve sheaths, pigmented spots (nevi and lentigines) of the skin, growth hormone (GH) producing tumors of the pituitary gland, and tumors of the testicles, ovaries, and thyroid gland. In the presence of these associations the condition is referred to as the Carney Complex. Presently there are no tests for screening of PPNAD and the Carney Complex. In addition, it is unknown how these conditions are genetically transferred from generation to generation.

This study proposes to use standard methods of clinical testing for endocrine and nonendocrine diseases and genetic testing in order to;

1. Define the genetic basis for PPNAD and/or the Carney Complex.
2. Determine the molecular changes associated with the development of the tumors.
3. Identify carriers of the disease.
4. Determine the prognosis for carriers and affected individuals.
5. Provide sufficient data for genetic counseling of families with PPNAD and/or Carney Complex.\<TAB\>

Conditions

  • Cushing's Syndrome
  • Pituitary Adenoma
  • Carney Complex
  • Primary Pigmented Nodular Adrenocortical Disease
  • Peutz-Jeghers Syndrome

Interventions

DRUG

oCRH

Sponsors & Collaborators

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

    lead NIH

Principal Investigators

  • Deborah P Merke, M.D. · Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

Eligibility

Min Age
3 Years
Max Age
70 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
1995-12-14

Countries

  • United States

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT00001452 on ClinicalTrials.gov