Rare Disease Trial, Recruiting
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:
- People who have a specific genetic defect — either two copies of the same mutation, or two different mutations — in the TYMP gene, which affects an enzyme called Thymidine Phosphorylase (confirm with trial site)
- People whose Thymidine Phosphorylase enzyme activity is less than 20% of the normal level (confirm with trial site)
- People who have elevated levels of a substance called Thymidine in their blood, above 3 micromole/L
- People who have elevated levels of another substance called deoxyuridine in their blood, above 7.5 micromole/L
- People who are at least 5 years old
Who may not be able to join:
- People who have taken part in another clinical trial or experimental treatment study within the past month
- People who are not able to travel to the trial site for research visits
- People who are unwilling to sign a consent form agreeing to participate
- People who currently misuse drugs or alcohol
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.
Contact this trial
Principal Investigator: Michio Hirano, MD, Columbia University
Phone: 212-305-6834
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
Where this trial is recruiting
Primary endpoints
Timed Water Swallow
Can't join this trial?
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.