Experimental gene therapy aims to fix cystinosis at the source
NCT ID NCT03897361
First seen Jun 24, 2026 · Last updated Jun 27, 2026 · Updated 1 time
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.
Disclaimer
Read more
Show less
This is a summary of
the original study
.
Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
Get updates
Get notified about this study
Sign up to get updates when this study changes or when new studies for LYSOSOMAL STORAGE DISEASES are added.
By submitting, you agree to our Terms of use
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
Show contact details
Enter your email to view the contact information for this study.
By submitting, you agree to our Terms of use
Locations
-
University of California San Diego
La Jolla, California, 92093, United States