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Nephropathic CystinosisPhase 1/2CYStemNCT06910813

DFT383 in Pediatric Participants With Nephropathic Cystinosis

A Phase 1/2 study testing DFT383 in people with Nephropathic Cystinosis, run by Novartis Pharmaceuticals at 6 sites in United States.

Recruiting

Looking for participants now. Contact the study team or a site below to ask about taking part.

Sites and contacts
Official record
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Trial summary

An open-label, multi-center, phase I/II study to assess the safety, tolerability and efficacy of DFT383 in pediatric participants with nephropathic cystinosis, followed by a long-term extension phase. Read more about this study

Who is it for?
Ages 2 to 5 years
Conditions the study is for
Nephropathic Cystinosis
What is being tested?
DFT383
Could I receive a placebo?
No, everyone receives an active treatment
How many people
30 participants
Where
6 sitesUnited States
Study dates
2 Jun 2025to 28 May 2044
Phase
Phase 1/2
Are there results?
Not yet: the study is under way

Key requirements

Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.

  • Ages 2 to 5 years
  • All sexes
  • No healthy volunteers
  • Child

Who may be able to join

  • Participants eligible for inclusion in this study must meet all the following criteria:
  • Informed consent in writing from parent(s) or legal guardian(s) must be provided
  • 2 to 5 years of age (including 5 years and 364 days old) at Screening
  • Weight-for-stature is ≥ the third percentile, and is ≥ 10 kg
  • Oral cysteamine therapy for at least 6 months
  • Historic clinical diagnosis of nephropathic cystinosis
Show all 9Show fewer
  • Laboratory evidence of of renal fanconi syndrome (RFS)
  • Relatively preserved kidney function (eGFR ≥ 60mL/min/1.73m2)
  • Received all age-appropriate vaccinations

Who cannot join

  • A history of kidney transplantation
  • A prior or planned bone marrow or stem cell transplantation or prior treatment with gene therapy
  • History of malignancy
  • A severe or uncontrolled medical disorder
  • 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.

Trial locations and contacts

6 sites in 1 country. Contact the study team or a site near you to ask about taking part.

Novartis Pharmaceuticals contact

1-888-669-6682

novartis.email@novartis.com

Novartis Pharmaceuticals contact

6 sites in 1 country

United States6 sites, 6 recruiting
  • Emory University School of Medicine - Children's Healthcare of Atlanta (recuiting Cohort 0)

    Atlanta, Georgia, 30322

    Laurence (Larry) Greenbaum, 404-712-6374, lgreen6@emory.edu

    Laurence (Larry) Greenbaum

    Recruiting
  • Baylor College of Medicine - Texas Children's Hospital (recuiting Cohort 0)

    Houston, Texas, 77030

    Ewa Elenberg, 832-824-3800, Email_elenberg@bcm.edu

    Ewa Elenberg

    Recruiting
  • Children's Hospital of Philadelphia (Recruiting Cohort 0)

    Philadelphia, Pennsylvania, 19104

    Melissa Cadnapaphornchai, 215-590-2449

    Melissa Cadnapaphornchai

    Recruiting
  • Phoenix Children's Hospital (Recruiting Cohort 0 and 1)

    Phoenix, Arizona, 85016

    Erica Sieber, 602-933-0171, esieber@phoenixchildrens.com

    Shanna White

    Recruiting
  • University of California at San Diego - Rady Children's Hospital (Recruiting Cohort 0 and 1)

    San Diego, California, 92123

    Mieko Pretlow, 858-966-1700 ext. Ext 226010, mpretlow@rchsd.org

    Nadine Benador nbenador@health.ucsd.edu

    Recruiting
  • Stanford University - Stanford Children's Health (Recruiting Cohort 0 and 1)

    Stanford, California, 94305

    Research Nurse, (650) 725-9032, scgt_clinical_trials_office@lists.stanford.edu

    Alice Bertaina

    Recruiting

Other trials in United States

About this study

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

An open-label, multi-center, phase I/II study to assess the safety, tolerability and efficacy of DFT383 in pediatric participants with nephropathic cystinosis, followed by a long-term extension phase.

The purpose of this clinical study is to assess safety, tolerability, and efficacy of DFT383 in participants aged 2 to 5 years with nephropathic cystinosis. The study consists of a Core Phase and a long-term Extension Phase. DFT383 is a cellular gene therapy.

This study includes an active arm (Cohort 1) of participants treated with study treatment DFT383 and a concurrent reference arm (Cohort 0). Participants in Cohort 0 will not receive study treatment and will only participate in the Core Phase of the study. The study is not randomized and Cohort 0 aims to collect prospective and concurrent data in this rare disease.

Read the detailed description

This study is an open-label, multi-center, phase I/II study to assess the safety, tolerability, and efficacy of DFT383 in participants aged 2 to 5 years with nephropathic cystinosis, followed by a long-term extension phase.

The study includes two Treatment Groups (Cohort 1 and Cohort 0) and consists of a Core Phase and a long-term Extension Phase.

Participants in Cohort 1 will receive DFT383 and participate in both the Core and Extension Phase. Participants in Cohort 0 will not receive study treatment and will participate in the Core Phase only.

The two cohorts will be run in parallel. Investigational sites may participate in one or both cohorts.

Cohort 1 Approximately 15 participants will receive treatment with DFT383 in 3 (sub) cohorts (1A, 1B and 1C) dosed in a staggered approach. The total study duration for a participant in Cohort 1 will be up to 32 months in the core phase and up to 13 years for the long-term extension phase.

Cohort 0 Approximately 15 participants meeting similar inclusion/exclusion criteria and receiving SoC will be enrolled. The Schedule of Activities will be reduced for this Cohort. This cohort 0 is not a direct control but will provide essential context for interpreting the results observed in the participants receiving DFT383. The total study duration for a participant in Cohort 0 will be up to 24 months.

Being tested
DFT383
Keywords
Cystinosis, Nephropathic cystinosis, Lysosomal storage disorder, CTNS gene, DFT383, Cellular gene therapy, Cysteamine, Renal Fanconi syndrome
Medical subject headings
Cystinosis, Lysosomal Storage Diseases, Fanconi Syndrome

What participants receive

What participants receive. In a randomised study each person is assigned to one group by chance.

  • DFT383Genetic

    DFT383 is an autologous hematopoietic stem cell (HSC) gene therapy.

Study groups in NCT06910813
Study groupRoleWhat they receive
Cohort 1 (DFT383)ExperimentalTreatment with DFT383
Receives: Genetic: DFT383
Cohort 0 (SoC)No interventionNo study treatment, will continue with standard of care (cysteamine).

What is being measured

The primary outcome is the main question the study is designed to answer.

  1. Core Phase - Incidence of adverse events (Cohort 1)

    Number and proportion of participants with adverse events (AEs) and serious adverse events (SAEs)

    Measured: Up to 32 months

  2. Core Phase - Number of participants with hematological reconstitution (Cohort 1)

    Hematological reconstitution by Day 42 post-DFT383 infusion

    Measured: 42 days post DFT infusion

  3. Core Phase - Proportion of participants with reversal of renal Fanconi syndrome (RFS)

    Proportion of participants with reversal of renal Fanconi syndrome (RFS)

    Measured: Up to 32 months

Secondary outcomes (32)
  1. Core Phase - Number of participants independent from cysteamine

    Independence from oral and ophthalmic cysteamine

    Measured: up to 24 months

  2. Core Phase - Health-related quality of life (HRQOL)

    Health-related quality of life (HRQOL) as measured by QUALIFY (cystinosis-specific PRO)- Currently under development

    Measured: Up to 32 months

  3. Core Phase - Time from infusion to reversal of RFS (Cohort 1)

    Time from infusion to reversal of renal Fanconi syndrome (RFS)

    Measured: Up to 24 months

  4. Core Phase - Time from screening to reversal of RFS (Cohort 0)

    Time from screening to reversal of renal Fanconi syndrome (RFS)

    Measured: Up to 24 months

  5. Core Phase - Duration of reversal of RFS

    Duration of reversal of renal Fanconi syndrome (RFS)

    Measured: Up to 24 months

  6. Core Phase - Change from baseline on urine protein to creatinine ratio (UPr/CR)

    Change from baseline on urine protein to creatinine ratio (UPr/CR)

    Measured: Up to 27 months

  7. Core Phase - Change from baseline on urine amino acids

    Change from baseline on urine amino acids

    Measured: Up to 27 months

  8. Core Phase - Change from baseline on urinary glucose to creatinine ratio

    Change from baseline on urinary glucose to creatinine ratio

    Measured: Up to 27 months

  9. Core Phase - Change from baseline on tubular maximum reabsorption of Phosphate/Glomerular Filtration Rate ratio (TmP/GFR)

    Change from baseline on tubular maximum reabsorption of Phosphate/Glomerular Filtration Rate ratio

    Measured: Up to 27 months

  10. Core Phase - Change from baseline on urine retinol-binding protein/creatinine ratio (RBP/Cr)

    Change from baseline on urine retinol-binding protein/creatinine ratio

    Measured: Up to 27 months

  11. Core Phase - Number of participants with improvement of proximal tubular function

    Improvement of proximal tubular function as defined by 2-fold change from Baseline of at least 4 out of 5 RFS parameters (urine protein to creatinine ratio, urine amino acids, urinary glucose to creatinine ratio, tubular maximum reabsorption of Phosphate/Glomerular Filtration Rate, urine retinol-binding protein/creatinine ratio). Improvement will also be considered if the change from Baseline is less than 2-fold but the value falls within the definition for normalization.

    Measured: Up to 27 months

  12. Core Phase - Corneal cystine crystal content

    Corneal crystal content by anterior segment optical coherence tomography (AS-OCT)

    Measured: Up to 27 months

  13. Core Phase - Number of participants with clinically significant changes in vital signs, physical examinations, laboratories, and ECG (Cohort 1)

    Vital signs, physical examinations, laboratories (eg., chemistry, hematology, liver function tests), and ECG

    Measured: Up to 27 months

  14. Core Phase - Number of participants with presence/emergence of replication-competent lentivirus (Cohort 1)

    Number of participants with presence/emergence of replication-competent lentivirus

    Measured: Up to 27 months

  15. Core Phase - Number of participants with malignancy (Cohort 1)

    Number of participants with malignancy

    Measured: Up to 27 months

  16. Core Phase - Time to hematological reconstitution (Cohort 1)

    Time to hematological reconstitution

    Measured: Up to 24 months

  17. Core Phase - Time to platelet engraftment (Cohort 1)

    Time to platelet engraftment

    Measured: Up to 24 months

  18. Core Phase - Incidence of Adverse Events (Cohort 0)

    Number and proportion of participants with adverse events (AEs) and serious adverse events (SAEs)

    Measured: up to 24 months

  19. Extension Phase Primary Objective - Incidence of Adverse events (Cohort 1)

    Number and proportion of participants with adverse events (AEs) and serious adverse events (SAEs)

    Measured: Up to 15 years and 8 months

  20. Extension Phase - Number of participants with malignancy (Cohort 1)

    Number of participants with malignancy

    Measured: Up to 15 years and 3 months

  21. Extension Phase - Number of participants with presence/emergence of replication-competent lentivirus (Cohort 1)

    Number of participants with presence/emergence of replication-competent lentivirus

    Measured: Up to 15 years and 3 months

  22. Extension Phase - Number of participants with clinically significant changes in vital signs, physical examinations, laboratories, and ECG (Cohort 1)

    Vital signs, physical examinations, laboratories (eg., chemistry, hematology, liver function tests), and ECG

    Measured: Up to 15 years and 3 months

  23. Extension Phase - Change from baseline on urine protein to creatinine ratio (UPr/CR) (Cohort 1)

    Change from baseline on urine protein to creatinine ratio (UPr/CR)

    Measured: Up to 15 years and 3 months

  24. Extension Phase - Change from baseline on urine amino acids (Cohort 1)

    Change from baseline on urine amino acids

    Measured: Up to 15 years and 3 months

  25. Extension Phase - Change from baseline on urinary glucose to creatinine ratio (Cohort 1)

    Change from baseline on urinary glucose to creatinine ratio

    Measured: Up to 15 years and 3 months

  26. Extension Phase - Change from baseline on tubular maximum reabsorption of Phosphate/Glomerular Filtration Rate ratio (TmP/GFR) (Cohort 1)

    Change from baseline on tubular maximum reabsorption of Phosphate/Glomerular Filtration Rate ratio

    Measured: Up to 15 years and 3 months

  27. Extension Phase - Change from baseline on urine retinol-binding protein/creatinine ratio (RBP/Cr) (Cohort 1)

    Change from baseline on urine retinol-binding protein/creatinine ratio

    Measured: Up to 15 years and 3 months

  28. Extension Phase - Duration of reversal of RFS (Cohort 1)

    Duration of reversal of renal Fanconi syndrome (RFS)

    Measured: Up to 15 years

  29. Extension Phase - Number of participants with kidney failure (Cohort 1)

    Number of participants with kidney failure

    Measured: Up to 15 years

  30. Extension Phase - Number of participants independent from cysteamine (Cohort 1)

    Independence from oral and ophthalmic cysteamine

    Measured: Up to 15 years

  31. Extension Phase - Corneal cystine crystal content (Cohort 1)

    Corneal crystal content by anterior segment optical coherence tomography (AS-OCT)

    Measured: Up to 15 years and 3 months

  32. Extension Phase - Health-related quality of life (HRQOL) (Cohort 1)

    Health-related quality of life (HRQOL) as measured by QUALIFY (cystinosis-specific PRO)- Currently under development

    Measured: Up to 15 years and 8 months

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

  1. First posted4 Apr 2025
  2. Study start2 Jun 2025
  3. Primary completion28 May 2031 (estimated)
  4. Study completion28 May 2044 (estimated)

Resources

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.

Study design
Study type
Interventional
Phase
Phase 1/2
Primary purpose
Treatment
Allocation
Non-randomised
Intervention model
Parallel groups
Masking
None (open label)
Enrolment
30 participants (estimated)
IDs, dates and publications
ClinicalTrials.gov ID
NCT06910813
Sponsor's protocol ID
CDFT383A12101
Acronym
CYStem
Status last verified
Oct 2026
First submitted
17 Mar 2025
Last updated
16 Oct 2026
Results posted
No
Data monitoring committee
Yes
FDA-regulated drug
Yes
FDA-regulated device
No
Individual data sharing
Yes

Questions about this trial

What is this clinical trial studying?

A Phase 1/2 study testing DFT383 in people with Nephropathic Cystinosis, run by Novartis Pharmaceuticals at 6 sites in United States.

The full registered description is in the About this study section and the official record.

Who may be eligible to take part?

The sponsor lists 9 inclusion and 8 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.

Is this clinical trial currently recruiting?

The record says: looking for participants now, as of the sponsor's last update on 16 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 6 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.

What are the possible benefits and risks?

They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.

What does this combined phase mean?

Phase 1 studies test a treatment in a small group of people for the first time or in a new way, mainly to check safety and find the right dose.

Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.

Not every study follows the same path, and some studies (observational studies, device studies) have no phase.

Are results available for this study?

This study is still under way. Results are not available in the source record yet.

How can a doctor refer a patient or contact the research team?

Contact Novartis Pharmaceuticals (1-888-669-6682, novartis.email@novartis.com), or a site near the patient. AzTrials does not enrol participants or take referrals.

What does the primary outcome measure?

Core Phase - Incidence of adverse events (Cohort 1) (time frame: Up to 32 months). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.

Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?

No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.

How often is this information updated?

AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 16 Oct 2026.

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