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Main
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Note: This record shows only the 20 elements of the WHO Trial Registration Data Set. To view changes that have been made to the source record, or for additional information about this trial, click on the URL below to go to the source record in the primary register. |
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Register:
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ClinicalTrials.gov |
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Last refreshed on:
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29 April 2013 |
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Main ID: |
NCT00001452 |
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Date of registration:
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03/11/1999 |
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Primary sponsor: |
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Public title:
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Defining the Genetic Basis for the Development of Primary Pigmented Nodular Adrenocortical Disease (PPNAD) and the Carney Complex
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Scientific title:
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Definition of the Genotype and Clinical Phenotype of Primary Pigmented Nodular Adrenocortical Disease (PPNAD), Carney Complex, Peutz-Jeghers Syndrome and Related Conditions |
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Date of first enrolment:
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January 1995 |
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Target sample size:
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99999999 |
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Recruitment status: |
Recruiting |
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URL:
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http://clinicaltrials.gov/show/NCT00001452 |
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Study type:
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Observational |
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Study design:
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N/A
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Countries of recruitment
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United States
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Contacts
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Name:
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For more information at the NIH Clinical Center contact Patient Recruitment and Public Liaison Office (PRPL) |
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Address:
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Telephone:
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800-411-1222 |
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Email:
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prpl@mail.cc.nih.gov |
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Affiliation:
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Name:
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Constantine A Stratakis, M.D. |
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Address:
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Telephone:
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(301) 594-5984 |
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Email:
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stratakc@cc1.nichd.nih.gov |
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Affiliation:
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Name:
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Constantine A Stratakis, M.D. |
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Address:
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Telephone:
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Email:
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Affiliation:
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Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) |
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Key inclusion & exclusion criteria
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- 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:
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
3. Patients with one of the familial lentiginosis syndromes: Peutz-Jeghers and
LEOPARD syndrome, other forms of familial lentiginosis.
2. Informed consent, and for children and/ or mentally impaired, parental or
legal custodian's consent and subject assent.
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.
Age minimum:
3 Years
Age maximum:
N/A
Gender:
Both
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Health Condition(s) or Problem(s) studied
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Cushing's Syndrome
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Hereditary Neoplastic Syndrome
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Lentigo
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Neoplasm
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Testicular Neoplasm
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Secondary ID(s)
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95-CH-0059
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950059
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Source(s) of Monetary Support
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Please refer to primary and secondary sponsors
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