Experimental gene therapy aims to fix cystinosis at the source
NCT ID NCT03897361
First seen Jun 24, 2026 · Last updated Aug 07, 2026 · Updated 3 times
Summary
This early-phase trial tested a gene therapy for cystinosis, a rare genetic disorder that causes cystine crystals to build up in cells, damaging organs. Researchers took blood stem cells from 6 patients, added a working copy of the faulty gene, and infused the corrected cells back into the patients. The goal was to see if the treatment is safe and can lower cystine levels, potentially reducing the need for daily medication.
What this could mean
Our plain-language read of the trial. This is informational only — not medical advice or a prediction.
- Active substance
- gene-modified stem cells (CTNS-RD-04)
- What this could lead to
- If successful, this could lead to a one-time treatment that reduces or eliminates the need for daily cystine-lowering medication in people with cystinosis.
- What could go wrong
- This is a very early, small trial with only 6 participants. The gene therapy may not work for everyone, and there are risks from the stem cell transplant procedure, including possible side effects or complications.
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
Locations
-
University of California San Diego
La Jolla, California, 92093, United States
More trials for these conditions
Other studies related to the condition(s) this trial covers.
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