Status:
RECRUITING
Androgen Receptor, Implications for Health and Wellbeing: Natural History Study of Individuals With Androgen Insensitivity
Lead Sponsor:
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Conditions:
Androgen Insensitivity Syndrome
Metabolic Parameters in AIS, CAIS, PAIS and MAIS
Eligibility:
All Genders
1-99 years
Brief Summary
Background: Androgen effects in humans are usually (but not always) mediated by the androgen receptor which is coded for by the androgen receptor gene (AR gene). Androgen Insensitivity Syndrome (AIS)...
Detailed Description
Study Description: This is a natural history study of individuals with androgen receptor gene abnormalities. Objectives: Primary Objectives: To define and describe a comprehensive phenotype of pati...
Eligibility Criteria
Inclusion
- INCLUSION CRITERIA:
- Inclusion Criteria for AIS subjects
- In order to be eligible to participate in this study, an individual must meet all the following criteria:
- Individuals ages 0-99 years old with known androgen insensitivity based on pathologic androgen receptor gene mutation or based on clinical diagnosis of complete androgen insensitivity (CAIS) based on 46 XY karyotype, presence of testis, absence of uterus, high testosterone without signs of virilization at birth or during puberty and/or multiple members in the family also presenting with clinical CAIS.
- Identify as male or female
- Patients with both complete, partial and mild androgen insensitivity are eligible
- Stated willingness to comply with all study procedures and availability for the duration of the study
- Ability of subject or guardian to understand and the willingness to sign and date a written informed consent document.
- Inclusion Criteria for Relative of AIS subjects
- 1\) Adult Relatives of patients with AIS
- EXCLUSION CRITERIA:
- Exclusion Criteria for AIS subjects
- An individual who meets any of the following criteria will be excluded from participation in this study: Patients with other diagnosis such as partial or complete gonadal dysgenesis, 5-alpha reductase deficiency, and 46 XY. If, following a diagnostic work-up, a patient is determined to have causes for 46 XY DSD other than androgen insensitivity; they will no longer be followed on this protocol. They will have the opportunity to continue care with the team under the Data Collection Protocol or may be referred to an expert or multidisciplinary DSD team in the community.
- Patients with significant non-endocrine medical conditions.
- Exclusion Criteria for Relative of AIS subjects
- 1\) Patients with significant non-endocrine medical conditions.
Exclusion
Key Trial Info
Start Date :
April 29 2021
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
February 1 2040
Estimated Enrollment :
650 Patients enrolled
Trial Details
Trial ID
NCT04708431
Start Date
April 29 2021
End Date
February 1 2040
Last Update
December 26 2025
Active Locations (1)
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1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892