Defining the Genetic Basis for the Development of Primary Pigmented Nodular Adrenocortical Disease (PPNAD) and the Carney Complex
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|ClinicalTrials.gov Identifier: NCT00001452|
Recruitment Status : Completed
First Posted : November 4, 1999
Last Update Posted : June 17, 2021
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;
- Resistance to suppression by the drug dexamethasone
- The body is unable to secrete cortisol in a normal rhythm
- 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;
- Define the genetic basis for PPNAD and/or the Carney Complex.
- Determine the molecular changes associated with the development of the tumors.
- Identify carriers of the disease.
- Determine the prognosis for carriers and affected individuals.
- Provide sufficient data for genetic counseling of families with PPNAD and/or Carney Complex.<TAB>
|Condition or disease|
|Cushing's Syndrome Pituitary Adenoma Carney Complex Primary Pigmented Nodular Adrenocortical Disease Peutz-Jeghers Syndrome|
|Study Type :||Observational|
|Actual Enrollment :||1387 participants|
|Official Title:||Definition of the Genotype and Clinical Phenotype of Primary Pigmented Nodular Adrenocortical Disease (PPNAD), Carney Complex, Peutz-Jeghers Syndrome and Related Conditions|
|Actual Study Start Date :||December 14, 1995|
families with PPNAD and/or Carney complex
- Genotype and clinical phenotype correlation in patients with PPNAD, Carney Complex, Peutz-Jeghers Syndrome and related conditions. [ Time Frame: This is an ongoing project ]Genotype and clinical phenotype correlation in patients with PPNAD, Carney Complex, Peutz-Jeghers Syndrome and related conditions.
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00001452
|United States, Maryland|
|National Institutes of Health Clinical Center, 9000 Rockville Pike|
|Bethesda, Maryland, United States, 20892|
|Principal Investigator:||Crystal D Kamilaris, M.D.||Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)|