Natural History Study of Individuals With Androgen Insensitivity

This study is looking at the health and well-being of people with Androgen Insensitivity Syndrome (AIS). AIS is a rare condition where the body doesn't properly respond to male hormones (androgens). Researchers want to understand how AIS affects different aspects of health, including metabolism, bone health, and the risk of tumor formation. They also want to learn more about sexual function and overall quality of life for individuals with AIS. The study aims to gather information from 650 participants aged 8 to 99 years old who have a confirmed diagnosis of AIS. This is an observational study, meaning researchers will collect information over time without giving any specific treatments.

Study design
This is an observational study aiming to enroll 650 participants. It is a natural history study, meaning researchers will observe participants over time without providing specific interventions.
What's involved
Not specified in the trial record.
Compensation
Not stated in the trial record.
Follow-up
Information will be collected until the end of the study, but the specific duration of follow-up for individual participants is not specified.

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NCT04708431

Androgen Receptor, Implications for Health and Wellbeing: Natural History Study of Individuals With Androgen Insensitivity

Recruiting
Not specifiedAges 8–99Observational
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
~650 participants
Updated 2026-08-13 on ClinicalTrials.gov

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
To define and describe a comprehensive phenotype in 500 patients with androgen insensitivity
Measured over End of study
Androgen Insensitivity Syndrome
Metabolic Parameters in AIS, CAIS, PAIS and MAIS
Tumor Formation in AIS, CAIS, PAIS and MAIS
Sexual Function AIS, CAIS, PAIS and MAIS
1 sites across 1 states
Maryland1
  • Veronica Gomez-Lobo, M.D. · PRINCIPAL_INVESTIGATOR · Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

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  • To define and describe a comprehensive phenotype in 500 patients with androgen insensitivityEnd of study

    Primary Objectives: To define and describe a comprehensive phenotype of patients with androgen insensitivity (based on confirmed androgen receptor (AR) gene difference), including hormonal, metabolic, immunologic, and cardiovascular aspects of the disease, as well as quality life and tumor formation risk and evaluation