DFT383 in Pediatric Participants With Nephropathic Cystinosis

NCT06910813 | Recruiting Phase 1 DMC FDA Drug

• 1 other identifier: CDFT383A12101
• Study Type: interventional
• Target: 30
• Locations: 1 country
• Sites: 4

Brief 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. 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.

Conditions

Nephropathic Cystinosis

Keywords

Cystinosis; Nephropathic cystinosis; Lysosomal storage disorder; CTNS gene; DFT383; Cellular gene therapy; Cysteamine; Renal Fanconi syndrome

Outcome Measures

Primary Outcomes (3)

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

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

  Up to 32 months

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

  Hematological reconstitution by Day 42 post-DFT383 infusion

  42 days post DFT infusion

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

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

  Up to 32 months

Secondary Outcomes (32)

• Core Phase - Number of participants independent from cysteamine

  up to 24 months

• Core Phase - Health-related quality of life (HRQOL)

  Up to 32 months

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

  Up to 24 months

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

  Up to 24 months

• Core Phase - Duration of reversal of RFS

  Up to 24 months

Study Arms (2)

Cohort 1 (DFT383)

EXPERIMENTAL

Treatment with DFT383

Genetic: DFT383

Cohort 0 (SoC)

NO INTERVENTION

No study treatment, will continue with standard of care (cysteamine).

Interventions

DFT383 GENETIC

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

Cohort 1 (DFT383)

Eligibility Criteria

• Age: 2 Years - 5 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)

You may qualify if:

• Informed consent in writing from parent(s) or legal guardian(s) must be provided
• 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
• Laboratory evidence of of renal fanconi syndrome (RFS)
• Relatively preserved kidney function (eGFR ≥ 60mL/min/1.73m2)
• Received all age-appropriate vaccinations

You may not qualify if:

• 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
• \. Indomethacin within 2 weeks prior to Screening

Sponsors & Collaborators

• Novartis Pharmaceuticals: lead

Study Sites (4)

University of California at San Diego - Rady Children's Hospital

San Diego, California, 92123, United States

RECRUITING

Stanford University - Stanford Children's Health

Stanford, California, 94305, United States

RECRUITING

Emory University School of Medicine - Children's Healthcare of Atlanta (recuiting Cohort 0)

Atlanta, Georgia, 30322, United States

RECRUITING

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

Houston, Texas, 77030, United States

RECRUITING

MeSH Terms

Conditions

Cystinosis; Lysosomal Storage Diseases; Fanconi Syndrome

Condition Hierarchy (Ancestors)

Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases; Renal Tubular Transport, Inborn Errors; Kidney Diseases; Urologic Diseases; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases

Central Study Contacts

Novartis Pharmaceuticals

CONTACT

1-888-669-6682; novartis.email@novartis.com

Novartis Pharmaceuticals

CONTACT

Study Design

• Study Type: interventional
• Phase: phase 1
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: PARALLEL
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 17, 2025
• First Posted: April 4, 2025
• Study Start: June 2, 2025
• Primary Completion (Estimated): March 14, 2031
• Study Completion (Estimated): March 14, 2044
• Last Updated: April 27, 2026

Record last verified: 2026-04

Data Sharing

• IPD Sharing: Will share

Locations

US (4)