An observational study in Androgen Insensitivity Syndrome, Metabolic Parameters in AIS, CAIS, PAIS and MAIS and Tumor Formation in AIS, CAIS, PAIS and MAIS, sponsored by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD). Recruiting at 1 site in United States. Open to participants aged 8 Years to 99 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2026-10-20.
Sponsored by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) · Observational
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Among 29 studies in Bulbo-Spinal Atrophy, X-Linked with a site in United States — 6 open to participants now, 10 under way, 3 of them phase 3. Bulbo-Spinal Atrophy, X-Linked · United States.
Among the 29 studies in Bulbo-Spinal Atrophy, X-Linked with a site in United States, this one is one of 5 that started in 2021, is one of 7 observational ones, and was the 14th registered.
57 studies on the registry are indexed under Bulbo-Spinal Atrophy, X-Linked; 12 are open to participants now.
Browse Bulbo-Spinal Atrophy, X-Linked studies →6 of the 29 studies in Bulbo-Spinal Atrophy, X-Linked with a site in United States are open now. Recruiting first, the newest first:
ORIC Pharmaceuticals · Sites in United States, Puerto Rico
Ages 18+ · Men only
Novartis Pharmaceuticals · Sites in United States, Australia, Brazil and 11 more countries
Ages 18+ · Men only
National Institute of Neurological Disorders and Stroke (NINDS) · Sites in United States
Ages 18–120 · Men only · Healthy volunteers
Massachusetts General Hospital · Sites in United States, Israel, Italy
Ages 18–90
Sanford Health · Sites in United States
A study can be open while its sites in United States have not opened yet or have stopped. Only those recruiting at a site in United States →
Of the 12 Bulbo-Spinal Atrophy, X-Linked studies recruiting now, 5 (42%) set no upper age limit and 2 (17%) stop at 75 or younger; 3 take children under 18; 2 take healthy volunteers.
This study: 8 Years to 99 Years · all sexes · healthy volunteers too.
The full table on the hub →This tab as a report to print or save as PDF → With an account.
29 studies; the count open now beside each. This study's row is marked.
A study in two phases is counted once above. Listed by phase, each with its combined phases: Phase 1 10 · Phase 2 12 · Phase 3 6
First in 2006; this study’s year is marked. 5 started in 2021.
By drug class, each counting the studies that test any of its medicines:
This study's planned enrollment of 650 is above the median of 150 across 13 observational studies indexed under Bulbo-Spinal Atrophy, X-Linked.
Median enrollment 48 across the 22 interventional studies, 71 across the 7 observational. Of the 16 that completed or were terminated, 10 (63%) have results posted.
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13 of 29 have an industry lead sponsor. The 10 most frequent:
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) is the lead sponsor of 422 studies on the registry; 24 are open to participants now.
Of its 14 completed or terminated interventional studies of FDA-regulated products, 11 (79%) have results posted.
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) has 1 study filed under Bulbo-Spinal Atrophy, X-Linked — fewer than ten, so there is no comparison to draw.
2 of the studies in Bulbo-Spinal Atrophy, X-Linked with a site in United States that are under way reach primary completion within a year, 1 of them phase 3. Phase 3 first, then by date:
| Study | Primary completion |
|---|---|
| NCT06764485Phase 3CelgeneA Study to Compare the Efficacy and Safety of BMS-986365 Versus the Investigator's Choice of Therapy in Participants With Metastatic Castration-resistant Prostate Cancer | 2027-09-12 |
| NCT04944940National Institute of Neurological Disorders and Stroke (NINDS)Clinical, Molecular and Imaging Biomarkers in Spinal and Bulbar Muscular Atrophy (SBMA) | 2026-12-30 |
Add all 2 to your calendar (.ics) → With an account.
Among the 29 studies in Bulbo-Spinal Atrophy, X-Linked with a site in United States, from their registry updates:
This tab as a report to print or save as PDF → With an account.
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) is a rare condition in which the body cannot sense the male hormones in the blood or tissue. Both women and men can be affected by AIS. Researchers want to learn more about the health of people with AIS over time.
With a natural history study in individuals with AIS, data and tests may provide information regarding health risks (including the risks and benefits of gonadectomy and best ways to monitor for tumor) and optimal management of individuals with AIS as well as elucidate the role of the androgen receptor in human health. This study does not involve any interventions and we can provide clinical care while collecting data.
Objective:
The objective of this natural history study is to describe and define a comprehensive phenotype (characteristic) of patients with AIS based on confirmed androgen receptor (AR) gene difference. We will evaluate hormones, bone density and markers, cardiovascular and metabolic parameters, as well as quality of life and tumor formation risk and evaluation. The purpose is to obtain a better understanding of the overall health issues that people with AIS may have through the study procedures listed.
Eligibility:
People ages 8-99 with AIS and their adult relatives
Design:
Participants will go through a series of study procedures for data and specimen collection. This will be done to understand how AIS affects individuals since the androgen receptor is found in many tissues in the body including skin, bone, muscle, and the neurologic, immune and metabolic systems. All tests will be performed by skilled and trained study professionals.
Participants will be screened with:
Medical history
Physical exam
Medical record review
Lab tests.
Participants will have physical exams. Their body measurements will be taken. They will have blood and urine tests. They will have electrocardiograms to check heart health. They may complete questionnaires. They may have an Oral Glucose Tolerance Test.
Participants may have x-rays and HRpQCT scans taken of the hand, wrist, and other bones.
Participants will have body scans to measure bone thickness.
Participants will have magnetic resonance imaging (MRI) or sonogram of the pelvis. For MRI, they may get a contrast agent via intravenous (IV) catheter.
Adult participants may have the following:
MR elastography. It uses MRI and low-frequency vibrations to map stiffness of body tissues.
MR spectroscopy. It uses MRI to take pictures of chemicals in the liver and body fat.
Cardiac computed tomography scan. It uses x-rays to make pictures of the heart. Participants may get a contrast agent via IV.
Optional genital exam.
Optional one-time vaginal swab.
Participants will have visits every 1-2 years. Participation lasts indefinitely.
Adult relatives will also be invited to participate but will have only 1 visit. It will include some of the above tests.
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 patients with androgen insensitivity (based on confirmed androgen receptor
(AR) gene difference), including hormonal, metabolic, immunologic, and cardiovascular aspects of AIS, as well as quality life and tumor formation risk and evaluation.
Secondary Objectives:
Bone Health:
- Follow a large population of patients with androgen receptor abnormalities for:
Studies to determine bone geometry, strength and shape,
Metabolic and Immune Abnormalities:
- Follow a large population of patients with androgen receptor abnormalities for studies of metabolic abnormalities and auto-immune disease screening
Metabolic syndrome,
Testicular Tumor Risk and Monitoring:
- Follow a large population of patients with androgen receptor abnormalities in order to:
-- Describe the typical and atypical appearance of testes on ultrasound and magnetic resonance imaging (MRI) in young individual with
CAIS.
Evaluate gonadal tumor markers as a tool to assess for gonadal tumor.
- When individuals with androgen receptor abnormalities decide to undergo gonadectomy, perform tissue evaluation in order to:
Quality of Life:
similar ages.
Hormone Replacement:
- Evaluate different types and delivery of hormone replacement therapy on quality of life, sexual function, bone health and metabolic parameters in individual who have undergone gonadectomy
Follow a large population of patients with AIS for referral to future treatment studies.
Endpoints:
Primary Endpoint: Longitudinal evaluation of 500 individuals with AIS.
Secondary:
We will enroll and evaluate 500 patients with confirmed androgen receptor mutations. We will enroll 50 female relatives who are carriers of the AR gene difference and 50 female relatives who are not carriers of the AR gene and 50 healthy male relatives.
Inclusion Criteria for AIS Subjects
In order to be eligible to participate in this study, an individual must meet all the following criteria:
Inclusion Criteria for Relative of AIS Subjects
1) Adult Relatives of patients with AIS
EXCLUSION CRITERIA:
Exclusion Criteria for AIS Subjects
Exclusion Criteria for Relative of AIS Subjects
1) Patients with significant non-endocrine medical conditions.
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
We will enroll 50 female subjects relatives AIS subjects who are carriers of the AR gene difference
We will enroll 50 female subjects relatives of AIS subjects who are not carriers of the AR gene.
We will enroll 50 healthy male subjects of AIS relative subjects
500 Subjects with confirmed androgen receptor mutations
To define and describe a comprehensive phenotype in 500 patients with androgen insensitivity
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
Time frame: End of study
Effects of hormone therapy in individuals with Androgen Insensitivity
Evaluate different types and delivery of hormone replacement therapy on quality of life, sexual function, bone health and metabolic parameters in individuals who have undergone gonadectomy
Time frame: End of study
Quality of life measures (QoL) in individuals with Androgen Insensitivity
Quality of life questionnaires will be administered during each patient visit
Time frame: End of study
Gonadal Tumor evaluation in individuals with Androgen Insensitivity
A) MRI and Ultrasound imaging will be performed to describe the typical appearance of testes on ultrasound and magnetic resonance imaging (MRI) in young individuals with CAIS. B) Evaluate gonadal tumor markers as a tool to assess for gonadal tumor C) Gonadectomy tissue evaluation in order to: Investigate the histology and pathophysiology of gonadal tumor formation and assess the state of spermatogenesis in testis of individuals with androgen receptor abnormalities
Time frame: End of study
Metabolic assessment in individuals with Androgen Insensitivity
Metabolic parameters including laboratory evaluation as well as novel endometabolic imaging will be performed. Imaging will include MR spectography of liver fat and body composition, MR elastography for fibrosis assessment, and coronary wall imaging using CT angiography, and MRI evaluation of endothelial function to evaluate for artherosclerosis
Time frame: End of study
Evaluate Bone Health in individuals with Androgen Insensitivity
DEXA and HRpQCT scans and bone metabolism markers will be evaluated longitudinally in all individuals with AIS and family members. Comparison between family members who are carriers and non-carriers of the AR gene difference, those with mild, partial and complete androgen insensitivity will allow for evaluation of the effect of androgen receptor abnormalities on bone mineral density and growth as well as develop normative data for DEXA and HRpQCT scan interpretation in this population. Physiatry measurements will allow evaluation of muscle skeletal unit inferences.
Time frame: End of study
Plan to share: Undecided
Started Apr 2021 (actual). Primary completion is estimated for Feb 2040, 225 months after the start.
How these figures are worked out, and which studies are left out of them.
From the registry record's own update history. This site started tracking changes on Sep 25, 2026; for anything earlier, see the record history on ClinicalTrials.gov ↗
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