Rare Disease Trial, Recruiting (NCT05528744)

Rare Disease Trial, Recruiting NCT05528744 Sponsor: Boston Children's Hospital Condition: Rare Disease

Printed from Voxsanity (voxsanity.com.au) — NCT05528744 — Data sourced from ClinicalTrials.gov. Verify directly with the trial site before attending. Not medical advice.

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Who may be able to join

AI generated eligibility summary. Written by an AI model from the official source data and checked on a sample basis. It can contain mistakes, so confirm anything important against the original source. How we use AI

Who might be able to join this trial:

You have a change (variant) in a gene called ANKRD17, which has been identified in a previous genetic test report, and that variant is classified as "uncertain significance," "likely pathogenic," or "pathogenic" (confirm with trial site if you are unsure of your classification)
You have been diagnosed with a condition called CAGS and have a genetic report showing a disease-causing variant in the ANKRD17 gene
You have a suspected diagnosis of CAGS, along with a genetic report showing an "uncertain significance" variant in the ANKRD17 gene, and you also show signs or features of CAGS
You have a variant of uncertain significance in the ANKRD17 gene shown on a previous genetic test report

Who may not be able to join:

You do not have any evidence of a disease-causing or potentially disease-causing variant in the ANKRD17 gene on a previous clinical genetic test report

Important: Always verify eligibility with the trial site directly before applying.

Based on publicly available eligibility criteria from ClinicalTrials.gov. Verify directly with the trial site before acting. This is not medical advice.

This is a simplified plain English summary of the eligibility criteria. Full criteria are set by the trial investigators and may include additional requirements not shown here. Never self-exclude from a trial based on this summary. Contact the trial site directly to confirm your eligibility.

Last synced 28 July 2026

This study is not part of the standard drug-approval phase pathway (for example an observational, device, behavioural, or registry study), so a phase success rate does not apply.

Contact this trial

Principal Investigator: Maya Chopra, MBBS, FRACP, Boston Children's Hospital

Phone: 617-919-5214

Contact details sourced from ClinicalTrials.gov. Verify directly with the trial site before attending.

GP referral letter

Print a one-page summary to share with your doctor.

Voxsanity

Clinical trials and treatments, explained plainly · voxsanity.com.au

Date:

To: My Doctor

Re: Clinical trial enquiry

I am writing to enquire about the following clinical trial which may be relevant to my care:

Trial: NCT05528744

Sponsor: Boston Children's Hospital

Phase: Not Applicable

Status: Recruiting

Condition: Rare Disease

Trial contact: 617-919-5214

More information: https://clinicaltrials.gov/study/NCT05528744

Eligibility summary (AI generated)

Written by an AI model from the ClinicalTrials.gov eligibility criteria and checked on a sample basis. Please confirm against the original criteria.

Who might be able to join this trial:

You have a change (variant) in a gene called ANKRD17, which has been identified in a previous genetic test report, and that variant is classified as "uncertain significance," "likely pathogenic," or "pathogenic" (confirm with trial site if you are unsure of your classification)
You have been diagnosed with a condition called CAGS and have a genetic report showing a disease-causing variant in the ANKRD17 gene
You have a suspected diagnosis of CAGS, along with a genetic report showing an "uncertain significance" variant in the ANKRD17 gene, and you also show signs or features of CAGS
You have a variant of uncertain significance in the ANKRD17 gene shown on a previous genetic test report

Who may not be able to join:

You do not have any evidence of a disease-causing or potentially disease-causing variant in the ANKRD17 gene on a previous clinical genetic test report

Important: Always verify eligibility with the trial site directly before applying.

Access in Australia: A treatment being studied in a clinical trial is generally not yet listed on the PBS. Where a medicine is not approved or not available through a trial, the TGA Special Access Scheme may allow a doctor to access unapproved therapeutic goods for individual patients. See voxsanity.com.au/sas-navigator/ for a plain English explainer.

This information was sourced from ClinicalTrials.gov via Voxsanity (data last synced 28 July 2026). It is not medical advice. Please verify the trial's current status directly with the trial site before acting.

Trial details

Status

Recruiting

Phase

Not Applicable

Sponsor

Boston Children's Hospital

Registry

ClinicalTrials.gov

Start date

27 August 2022

Est. completion

1 December 2030

Where this trial is recruiting

🇺🇸 United States

Primary endpoints

Research registry of molecular and phenotypic information related to CAGS; Generation of patient-derived iPSC cell lines

Can't join this trial?

Expanded access pathways

If this trial is not available to you, other access pathways may exist. In Australia, the TGA Special Access Scheme allows access to unapproved therapeutic goods for individual patients.

TGA Special Access Scheme information

Find other recruiting trials on ClinicalTrials.gov

Data last synced from ClinicalTrials.gov: 28 July 2026. Trial status can change. Always verify current status directly with the trial site before making any decision.

Trial recruitment status can change without notice between our nightly data updates. Always contact the trial site directly to confirm current recruitment status before making any decisions or travel arrangements.

View original record on ClinicalTrials.gov