Gene therapy for young children with nephropathic cystinosis

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

Phase1; Phase2 Interventional Novartis · NCT06910813

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

PhasePhase1; Phase2
Study typeInterventional
Enrollment30 (estimated)
Ages2 Years to 5 Years
SexAll
SponsorNovartis Industry-sponsored
Locations4 sites (San Diego, California and 3 other locations)
Trial IDNCT06910813 on ClinicalTrials.gov

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.

Who should consider this trial

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.

Not a fit: Patients with a history of kidney transplantation or those who have previously undergone gene therapy may not benefit from this study.

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 performed: 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.

Eligibility criteria

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 this trial is running

San Diego, California and 3 other locations

Study contacts

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions Nephropathic CystinosisCystinosisNephropathic cystinosisLysosomal storage disorderCTNS geneDFT383Cellular gene therapyCysteamine
Last reviewed 2026-06-13 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.