Gene Therapy for Fanconi Anemia, Complementation Group A

NCT04248439 | Active Not Recruiting Phase 2 DMC FDA Drug

• 1 other identifier: RP-L102-0319
• Study Type: interventional
• Target: 5
• Locations: 1 country
• Sites: 2

Brief Summary

The objective of this study is to assess the therapeutic efficacy of a hematopoietic cell-based gene therapy for patients with Fanconi anemia, subtype A (FA-A). Hematopoietic stem cells from mobilized peripheral blood of patients with FA-A will be transduced ex vivo (outside the body) with a lentiviral vector carrying the FANCA gene. After transduction, the corrected stem cells will be infused intravenously back to the patient with the goal of preventing bone marrow failure.

Conditions

Fanconi Anemia Complementation Group A

Keywords

anemia; bone marrow failure; gene therapy

Outcome Measures

Primary Outcomes (1)

• Bone Marrow (BM) Colony-Forming Cell (CFC) Mitomycin-C (MMC) resistance

  Bone Marrow (BM) colony-forming cell (CFC) mitomycin-C (MMC) resistance ≥20% at 12 months post-infusion with a confirmatory result at 18 or 21 months (MMC at 10 nM concentration)

  21 months

Secondary Outcomes (10)

• Genetic Correction

  24 months

• Hematologic Stability- Hemoglobin

  24 months

• Hematologic Stability- Neutrophils

  24 months

• Hematologic Stability- Platelets

  24 months

• Phenotypic Correction

  24 months

Study Arms (1)

RP-L102

EXPERIMENTAL

RP-L102 is CD34+ enriched cells from subjects with Fanconi anemia subtype A transduced ex vivo with a lentiviral vector carrying the FANCA gene

Biological: RP-L102

Interventions

RP-L102 BIOLOGICAL

CD34+ enriched cells from subjects with Fanconi anemia subtype A transduced ex vivo with a lentiviral vector carrying the FANCA gene

RP-L102

Eligibility Criteria

• Age: 1 Year+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• Fanconi anemia as diagnosed by chromosomal fragility assay of cultured lymphocytes in the presence of DEB or a similar DNA-crosslinking agent
• Subject of the complementation group FA-A
• Minimum age: 1 year and a minimum weight of 8 kg
• At least 30 CD34+ cells/μL are determined in one bone marrow (BM) aspiration within 3 months prior to CD34+ cell collection OR
• \. Provide informed consent in accordance with current legislation 7. Women of childbearing age must have a negative urine pregnancy test at the baseline visit, and accept the use of an effective contraception method during participation in the trial

You may not qualify if:

• Subjects with an available and medically eligible HLA-identical sibling donor.
• Evidence of myelodysplastic syndrome or leukemia, or cytogenetic abnormalities other than those reported as variant(s) of normal in BM aspirate analysis. This assessment should be made by valid studies conducted within the 3 months before the subject commences the stem cell mobilization/collection procedures of the clinical trial.
• Subjects with somatic mosaicism associated with stable or improved counts in all PB cell lineages. (If T-lymphocyte chromosomal fragility analysis indicates potential mosaicism, a medically significant decrease (≥1 NCI CTCAE grade) in at least one blood lineage over time must be documented to enable eligibility, as should \<5% resistance of bone marrow colony forming cells (CFCs) to 10nM MMC; whenever possible potential mosaicism should also be evaluated by gene sequencing of MMC-resistant CFCs).
• Lansky performance status ≤60%.
• Any concomitant disease or condition that, in the opinion of the Principal Investigator, renders the subject unfit to participate in the study.
• Pre-existing sensory or motor impairment ≥grade 2 according to the criteria of the NCI.
• Pregnant or breastfeeding women.
• Hepatic dysfunction as defined by either:
• Bilirubin \>3.0 × the upper limit of normal (ULN) or
• Alanine aminotransferase (ALT) \> 5.0 × ULN or
• Aspartate aminotransferase (AST) \> 5.0 × ULN
• Renal dysfunction requiring either hemodialysis or peritoneal dialysis.
• Pulmonary dysfunction as defined by either:
• Need for supplemental oxygen during the prior 2 weeks in absence of acute infection or
• Oxygen saturation by pulse oximetry \<90%.

Sponsors & Collaborators

• Rocket Pharmaceuticals Inc.: lead

Study Sites (2)

Stanford University

Stanford, California, 94304, United States

Location

University of Minnesota

Minneapolis, Minnesota, 55454, United States

Location

MeSH Terms

Conditions

Fanconi Syndrome; Anemia; Bone Marrow Failure Disorders

Condition Hierarchy (Ancestors)

Renal Tubular Transport, Inborn Errors; Kidney Diseases; Urologic Diseases; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hematologic Diseases; Hemic and Lymphatic Diseases; Bone Marrow Diseases

Study Officials

• Rajni Agarwal, MD

  Stanford University

  PRINCIPAL INVESTIGATOR

• Margaret MacMillan, MD, MSc

  University of Minnesota

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: phase 2
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 24, 2020
• First Posted: January 30, 2020
• Study Start: July 15, 2020
• Primary Completion: May 5, 2026
• Study Completion: May 5, 2026
• Last Updated: December 22, 2025

Record last verified: 2025-12

Locations

US (2)