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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.
This long-term follow-up protocol will evaluate the long term safety and efficacy of the infusion of autologous CD34+ cells transduced with lentiviral vector (LV) carrying the FANCA gene.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| 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 |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Safety and efficacy assessments | Other | Long term disease and gene therapy specific safety evaluations and efficacy assessments |
|
| Measure | Description | Time Frame |
|---|---|---|
| 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 |
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Inclusion Criteria:
Exclusion Criteria:
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Subjects with Fanconi anemia subtype A who have been treated with ex vivo gene therapy product in FANCOLEN-I study
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Hospital Infantil Universitario Niño Jesús (HIUNJ) | Madrid | 28009 | Spain |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 39642902 | Derived | 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. |
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| ID | Term |
|---|---|
| D005198 | Fanconi Syndrome |
| D005199 | Fanconi Anemia |
| D000740 | Anemia |
| D000080983 | Bone Marrow Failure Disorders |
| D030342 | Genetic Diseases, Inborn |
| ID | Term |
|---|---|
| D015499 | Renal Tubular Transport, Inborn Errors |
| D007674 | Kidney Diseases |
| D014570 | Urologic Diseases |
| D052776 | Female Urogenital Diseases |
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| ID | Term |
|---|---|
| D012449 | Safety |
| ID | Term |
|---|---|
| D000056 | Accident Prevention |
| D000059 | Accidents |
| D011634 | Public Health |
| D004778 | Environment and Public Health |
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| D005261 | Female Urogenital Diseases and Pregnancy Complications |
| D000091642 | Urogenital Diseases |
| D052801 | Male Urogenital Diseases |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D029502 | Anemia, Hypoplastic, Congenital |
| D000741 | Anemia, Aplastic |
| D006402 | Hematologic Diseases |
| D006425 | Hemic and Lymphatic Diseases |
| D000080984 | Congenital Bone Marrow Failure Syndromes |
| D001855 | Bone Marrow Diseases |
| D049914 | DNA Repair-Deficiency Disorders |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |