Rare Disease Trial, Recruiting NCT06595940 Sponsor: National Human Genome Research Institute (NHGRI) Condition: Rare Disease
Back to Rare Disease

Rare Disease Trial, Recruiting

NCT06595940
Recruiting Not Applicable

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 must be willing to follow all study procedures and be available for the full length of the study.
  • You must be over 2 years old, either as the main patient being studied or as a close family member (parent, child, or sibling) of that patient.
  • There must be a reason to think your illness may have a genetic cause, such as a strong family history of the condition, symptoms starting at an unusually young age, or symptoms that are particularly severe or mild.
  • Both people who are affected by the condition and family members who are not affected may be eligible, based on a review of medical records before joining.
  • You (or your parent or guardian, if you are a child) must be able to understand and be willing to sign a consent form agreeing to take part.

Who may not be able to join:

  • Anyone who is not willing to sign a consent form — whether for themselves, for their child, or on behalf of an adult who cannot consent for themselves.
  • People who have already had genetic testing done and received a positive result identifying a genetic condition.
  • People whose symptoms appear to be caused by a condition that is unlikely to have a genetic cause.
  • People who, in the opinion of the study doctor, have a condition that would make it difficult for them to take part in the required evaluations and tests (confirm with trial site).

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 27 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: Neil A Hanchard, M.D., National Human Genome Research Institute (NHGRI)

Phone: (301) 594-2151

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.

Trial details

Status
Recruiting
Phase
Not Applicable
Sponsor
National Human Genome Research Institute (NHGRI)
Registry
ClinicalTrials.gov
Start date
30 July 2026
Est. completion
21 August 2034

Where this trial is recruiting

Mauritius

Primary endpoints

Exhaustion of available genomic interrogation techniques to determine the etiology of unconventional clinical phenotypes.

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: 27 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