E.1 Medical condition or disease under investigation |
E.1.1 | Medical condition(s) being investigated |
Fanconi anemia (Subtype A) |
Anemia de Fanconi (Subtipo A) |
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E.1.1.1 | Medical condition in easily understood language |
Fanconi anemia |
Anemia de Fanconi |
|
E.1.1.2 | Therapeutic area | Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] |
MedDRA Classification |
E.1.2 Medical condition or disease under investigation |
E.1.2 | Version | 15.1 |
E.1.2 | Level | LLT |
E.1.2 | Classification code | 10055206 |
E.1.2 | Term | Fanconi's anemia |
E.1.2 | System Organ Class | 100000004850 |
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E.1.3 | Condition being studied is a rare disease | No |
E.2 Objective of the trial |
E.2.1 | Main objective of the trial |
The main objective of this Phase I/II clinical trial is to evaluate the safety and the therapeutic efficacy of a hematopoietic gene therapy procedure with an orphan drug consisting of a lentiviral vector carrying the FANCA gene in patients with Fanconi Anemia Subtype A. |
El objetivo principal de este ensayo clínico abierto de Fase I/II es el de evaluar la seguridad y la eficacia terapéutica de un procedimiento de terapia génica hematopoyética con un medicamento huérfano consistente en un vector lentiviral portador del gen FANCA para pacientes con Anemia de Fanconi del Subtipo A. |
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E.2.2 | Secondary objectives of the trial |
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E.2.3 | Trial contains a sub-study | No |
E.3 | Principal inclusion criteria |
- Patients diagnosed with the Fanconi anemia complementation group-A - At least one of the following parameters must be less than the indicated values?: hemoglobin 8.0 g / dL, neutrophil count: 750/mm3, platelets: 30.000/mm3 - Age> 1 year - Lansky Index> 60% - Mild functional impairment of organs - To provide informed consent in accordance with current legislation - Number of transduced CD34+ cells: At least 3x100000 purified CD34 + / kg body weight |
- Pacientes del grupo de complementación AF-A - Al menos uno de los siguientes parámetros debe ser inferior a los valores indicados: Hemoglobina:8,0 g/dL; Número de neutrófilos: 750/mm3; Número de plaquetas: 30.000/mm3 - Edad> 1 año - Índice de Lansky > 60%. - Alteración funcional de órganos leve. - Otorgar consentimiento informado de acuerdo con la normativa legal vigente. - Número de células a transducir: Al menos 3x100000 CD34+ purificadas/Kg de peso. |
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E.4 | Principal exclusion criteria |
- Patients with HLA-identical family donor. - Evidence of leukemia or myelodysplastic syndrome, or cytogenetic abnormalities in bone marrow aspirates predictive of those. In this case studies performed two months before the entry of the patient in the clinical trial will be considered as valid - Evidence that the patient has signs of somatic mosaicism associated to hematologic improvement. - Any concomitant disease or condition in the investigator's opinion incapacitate the subject for their participation in the study. - Effect on pre-existing sensory or motor> = grade 2 according to the criteria of the National Cancer Institute (NCI). |
- Pacientes con donante familiar HLA idéntico. - Evidencias de síndrome mielodisplásico o leucemia, o anomalías citogenéticas predictivas de las mismas en aspirados de médula ósea. En este caso se darán por válidos los estudios realizados con dos meses de antelación a la entrada del paciente en el ensayo clínico. - Evidencias de que el paciente a infundir tenga signos de mosaicismo somático, con mejoría hematológica. - Toda enfermedad o proceso concomitante que en opinión del investigador incapacite al sujeto para su participación en el estudio. - Afectación sensorial o motora preexistente >= grado 2 según los criterios del National Cancer Institute (NCl) |
|
E.5 End points |
E.5.1 | Primary end point(s) |
- Determine the toxicity associated with infusion of CD34 + cells transduced with lentiviral vector therapy in FA-A patients. - Determining the degree of graft associated to infusion o fautologous CD34 + cells transduced with lentiviral vector therapy in FA-A patients. |
- Determinar la toxicidad asociada a la infusión de células CD34+ autólogas transducidas con el vector lentiviral terapéutico en pacientes con anemia de Fanconi del subtipo A. - Determinar el grado de injerto asociado a la infusión de células CD34+ autólogas transducidas con el vector lentiviral terapéutico en pacientes con anemia de Fanconi del subtipo A. |
|
E.5.1.1 | Timepoint(s) of evaluation of this end point |
Up to 2 years after infusion |
Hasta 2 años despues de la infusion |
|
E.5.2 | Secondary end point(s) |
- To determine the clinical response associated to infusion pof autologous CD34 + cells transduced with therapeutic lentiviral vector in FA-A patients |
- Determinar la respuesta clínica asociada a la infusión de células CD34+ autólogas transducidas con el vector lentiviral terapéutico en pacientes con anemia de Fanconi del subtipo A |
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E.5.2.1 | Timepoint(s) of evaluation of this end point |
Up to 2 years after infusion |
Hasta 2años despues de la infusion |
|
E.6 and E.7 Scope of the trial |
E.6 | Scope of the trial |
E.6.1 | Diagnosis | No |
E.6.2 | Prophylaxis | No |
E.6.3 | Therapy | Yes |
E.6.4 | Safety | Yes |
E.6.5 | Efficacy | Yes |
E.6.6 | Pharmacokinetic | No |
E.6.7 | Pharmacodynamic | No |
E.6.8 | Bioequivalence | No |
E.6.9 | Dose response | No |
E.6.10 | Pharmacogenetic | No |
E.6.11 | Pharmacogenomic | No |
E.6.12 | Pharmacoeconomic | No |
E.6.13 | Others | No |
E.7 | Trial type and phase |
E.7.1 | Human pharmacology (Phase I) | Yes |
E.7.1.1 | First administration to humans | Yes |
E.7.1.2 | Bioequivalence study | No |
E.7.1.3 | Other | No |
E.7.1.3.1 | Other trial type description | |
E.7.2 | Therapeutic exploratory (Phase II) | Yes |
E.7.3 | Therapeutic confirmatory (Phase III) | No |
E.7.4 | Therapeutic use (Phase IV) | No |
E.8 Design of the trial |
E.8.1 | Controlled | No |
E.8.1.1 | Randomised | No |
E.8.1.2 | Open | No |
E.8.1.3 | Single blind | No |
E.8.1.4 | Double blind | No |
E.8.1.5 | Parallel group | No |
E.8.1.6 | Cross over | No |
E.8.1.7 | Other | No |
E.8.2 | Comparator of controlled trial |
E.8.2.1 | Other medicinal product(s) | No |
E.8.2.2 | Placebo | No |
E.8.2.3 | Other | No |
E.8.2.4 | Number of treatment arms in the trial | 1 |
E.8.3 |
The trial involves single site in the Member State concerned
| No |
E.8.4 | The trial involves multiple sites in the Member State concerned | Yes |
E.8.4.1 | Number of sites anticipated in Member State concerned | 2 |
E.8.5 | The trial involves multiple Member States | No |
E.8.6 Trial involving sites outside the EEA |
E.8.6.1 | Trial being conducted both within and outside the EEA | No |
E.8.6.2 | Trial being conducted completely outside of the EEA | No |
E.8.7 | Trial has a data monitoring committee | No |
E.8.8 |
Definition of the end of the trial and justification where it is not the last
visit of the last subject undergoing the trial
|
Last visit last patient included |
Ultima visita del ultimo paciente incluido en el estudio |
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E.8.9 Initial estimate of the duration of the trial |
E.8.9.1 | In the Member State concerned years | 10 |
E.8.9.1 | In the Member State concerned months | 0 |
E.8.9.1 | In the Member State concerned days | 0 |
E.8.9.2 | In all countries concerned by the trial months | 0 |
E.8.9.2 | In all countries concerned by the trial days | 0 |