Long-Term Follow-up of Subjects With Fanconi Anaemia Subtype A Treated With ex Vivo Gene Therapy

NCT04437771 | Active Not Recruiting

• 1 other identifier: RP-L102-0116-LTFU
• Study Type: observational
• Target: 9
• Locations: 1 country
• Sites: 1

Brief Summary

This is a long-term safety and efficacy follow-up study for subjects with Fanconi Anaemia Subtype A who have been treated with ex vivo gene therapy on the FANCOLEN-I trial. After completion of the FANCOLEN-I study, eligible subjects will be followed for a total of 15 years post gene therapy treatment. No investigational drug product will be administered during this study.

Conditions

Fanconi Anemia Complementation Group A; Fanconi Anemia

Keywords

gene therapy; anaemia; autologous hematopoeitic stem cell transplant; safety; bone marrow failure; genetic diseases; anemia

Outcome Measures

Primary Outcomes (7)

• Monitor long term safety of patients through blood laboratory evaluations and general health status

  Evaluate long term safety following infusion of hematopoietic cells transduced with therapeutic lentiviral vector (LV)

  15 years post-drug product infusion

• Long term genetic correction assessed in bone marrow and blood

  Determine long term persistence of therapeutic LV in hematopoietic cells in bone marrow and blood

  15 years post-drug product infusion

• Replication competent lentivirus (RCL)

  Evaluate RCL in peripheral blood

  15 years post-drug product infusion

• Insertion site analysis in blood

  Determine long term clonality

  15 years post-drug product infusion

• Phenotypic correction

  Determine phenotypic correction of bone marrow and peripheral blood cells by resistance to DNA-damaging agents

  15 years post-drug product infusion

• Assessment for Malignancies

  Monitor for incidence of hematologic malignancies and solid organ tumors

  15 years post-drug product infusion

• Hematologic stabilization

  Monitor for long term stability and normalization of blood counts

  15 years post-drug product infusion

Study Arms (1)

Subjects with Fanconi Anaemia Subtype A (FA-A)

Subjects treated with ex vivo lentiviral gene therapy product in FANCOLEN-I trial and agree to participate in this long-term follow-up (LTFU) study

Other: Safety and efficacy assessments

Interventions

Safety and efficacy assessments OTHER

Long term disease and gene therapy specific safety evaluations and efficacy assessments

Subjects with Fanconi Anaemia Subtype A (FA-A)

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Subjects with Fanconi anemia subtype A who have been treated with ex vivo gene therapy product in FANCOLEN-I study

You may qualify if:

• Enrolled in the FANCOLEN-I study
• Treated with gene therapy in the FANCOLEN-I study
• Able to adhere to the study visit schedule and protocol requirements
• Provided written informed consent and, as applicable, assent to participate

Sponsors & Collaborators

• Rocket Pharmaceuticals Inc.: lead

Study Sites (1)

Hospital Infantil Universitario Niño Jesús (HIUNJ)

Madrid, 28009, Spain

Location

Related Publications (1)

• Rio P, Zubicaray J, Navarro S, Galvez E, Sanchez-Dominguez R, Nicoletti E, Sebastian E, Rothe M, Pujol R, Bogliolo M, John-Neek P, Bastone AL, Schambach A, Wang W, Schmidt M, Larcher L, Segovia JC, Yanez RM, Alberquilla O, Diez B, Fernandez-Garcia M, Garcia-Garcia L, Ramirez M, Galy A, Lefrere F, Cavazzana M, Leblanc T, Garcia de Andoin N, Lopez-Almaraz R, Catala A, Barquinero J, Rodriguez-Perales S, Rao G, Surralles J, Soulier J, Diaz-de-Heredia C, Schwartz JD, Sevilla J, Bueren JA; FANCOLEN-1 gene therapy investigators. Haematopoietic gene therapy of non-conditioned patients with Fanconi anaemia-A: results from open-label phase 1/2 (FANCOLEN-1) and long-term clinical trials. Lancet. 2025 Dec 21;404(10471):2584-2592. doi: 10.1016/S0140-6736(24)01880-4. Epub 2024 Dec 3.

  PMID: 39642902 DERIVED

MeSH Terms

Conditions

Fanconi Syndrome; Fanconi Anemia; Anemia; Bone Marrow Failure Disorders; Genetic Diseases, Inborn

Interventions

Safety

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; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Anemia, Hypoplastic, Congenital; Anemia, Aplastic; Hematologic Diseases; Hemic and Lymphatic Diseases; Congenital Bone Marrow Failure Syndromes; Bone Marrow Diseases; DNA Repair-Deficiency Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases

Intervention Hierarchy (Ancestors)

Accident Prevention; Accidents; Public Health; Environment and Public Health

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 15, 2020
• First Posted: June 18, 2020
• Study Start: June 1, 2020
• Primary Completion (Estimated): January 17, 2034
• Study Completion (Estimated): January 17, 2034
• Last Updated: April 13, 2026

Record last verified: 2026-04

Data Sharing

• IPD Sharing: Will not share

Locations

ES (1)