Gene therapy for young children with nephropathic cystinosis
Official title: An Open-label, Multi-center, Phase I/II Study to Assess Safety, Tolerability and Efficacy of DFT383 in Pediatric Participants With Nephropathic Cystinosis, Followed by a Long-term Extension Phase
Run by Novartis · NCT06910813 · Data updated 2026-11-12
This study is testing a new gene therapy for young children aged 2 to 5 with nephropathic cystinosis to see if it works better than the usual treatment.
Quick facts
| Phase | Phase1; Phase2 |
|---|---|
| Study type | Interventional |
| Ages | 2 Years to 5 Years |
| Sex | All |
| Enrollment | 30 (estimated) |
| Sponsor | Novartis Industry-sponsored |
| Locations | 6 sites (Phoenix, Arizona and 5 other locations) |
| Status | Recruiting |
| Started | June 2, 2025 |
| Main results expected | May 28, 2031 |
| Study ends | May 28, 2044 |
| Registry record updated | October 16, 2026 |
| Trial ID | NCT06910813 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates for this study are children aged 2 to 5 years with a clinical diagnosis of nephropathic cystinosis who have been on oral cysteamine therapy for at least 6 months.
✕Probably not a fit
Patients with a history of kidney transplantation or those who have previously undergone gene therapy may not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This clinical study evaluates the safety, tolerability, and efficacy of DFT383, a cellular gene therapy, in pediatric participants aged 2 to 5 years with nephropathic cystinosis. The study consists of two cohorts: Cohort 1, which receives DFT383, and Cohort 0, which receives standard of care. Both cohorts will run in parallel, with approximately 15 participants in each, allowing for a comparison of outcomes. The total duration for participants in Cohort 1 is up to 32 months, while those in Cohort 0 will be followed for up to 24 months.
Why it matters
Potential benefit: If successful, this therapy could significantly improve the management and outcomes for children suffering from nephropathic cystinosis.
How similar studies have gone: While gene therapy approaches for lysosomal storage disorders are emerging, this specific application in nephropathic cystinosis is novel and has not been extensively tested in prior studies.
Who can join: the full rules
Show full inclusion / exclusion criteria
Key Inclusion Criteria: Participants eligible for inclusion in this study must meet all the following criteria: 1. Informed consent in writing from parent(s) or legal guardian(s) must be provided 2. 2 to 5 years of age (including 5 years and 364 days old) at Screening 3. Weight-for-stature is ≥ the third percentile, and is ≥ 10 kg 4. Oral cysteamine therapy for at least 6 months 5. Historic clinical diagnosis of nephropathic cystinosis 6. Laboratory evidence of of renal fanconi syndrome (RFS) 7. Relatively preserved kidney function (eGFR ≥ 60mL/min/1.73m2) 8. Received all age-appropriate vaccinations Key exclusion Criteria for Cohort 1 and 0 1. A history of kidney transplantation 2. A prior or planned bone marrow or stem cell transplantation or prior treatment with gene therapy 3. History of malignancy 4. A severe or uncontrolled medical disorder 5. Major surgery within 90 days Additional Key exclusion criteria for Cohort 1 - The following exclusion criterion applies to Cohort 1 only as it is related to DFT383 treatment: 1\. Indomethacin within 2 weeks prior to Screening Other protocol-defined inclusion/exclusion criteria may apply.
Where it's running
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Phoenix Children's Hospital (Recruiting Cohort 0 and 1)
Phoenix, Arizona, United States Recruiting -
University of California at San Diego - Rady Children's Hospital (Recruiting Cohort 0 and 1)
San Diego, California, United States Recruiting -
Stanford University - Stanford Children's Health (Recruiting Cohort 0 and 1)
Stanford, California, United States Recruiting -
Emory University School of Medicine - Children's Healthcare of Atlanta (recuiting Cohort 0)
Atlanta, Georgia, United States Recruiting -
Children's Hospital of Philadelphia (Recruiting Cohort 0)
Philadelphia, Pennsylvania, United States Recruiting -
Baylor College of Medicine - Texas Children's Hospital (recuiting Cohort 0)
Houston, Texas, United States Recruiting
Study contacts
- Study coordinator: Novartis Pharmaceuticals
- Email: novartis.email@novartis.com
- Phone: 1-888-669-6682
Similar studies
Other studies for the same condition or treatment. Recruiting studies are listed first.
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Registry for patients with rare diseases
This study is creating a central registry for people with rare diseases to help connect them with researchers and improve treatments.
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.