E.1 Medical condition or disease under investigation |
E.1.1 | Medical condition(s) being investigated |
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E.1.1.1 | Medical condition in easily understood language |
A type of bone marrow failure syndrome |
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E.1.1.2 | Therapeutic area | Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] |
MedDRA Classification |
E.1.3 | Condition being studied is a rare disease | Yes |
E.2 Objective of the trial |
E.2.1 | Main objective of the trial |
The main objective is to determine the safety of mobilising CD34+ cells after treatment with filgrastim and plerixafor for subsequent use in a gene therapy trial in patients diagnosed with Fanconi anaemia. |
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E.2.2 | Secondary objectives of the trial |
The secondary objectives:
•To determine the efficacy of mobilising CD34+ cells into peripheral blood after treatment with filgrastim and plerixafor in patients diagnosed with Fanconi anaemia. • To determine the efficacy of CD34+ cell collection after treatment with filgrastim and plerixafor in patients diagnosed with Fanconi anaemia. • To determine the efficacy of selecting haematopoietic progenitors (CD34+ cells) from the product of apheresis using an immunomagnetic procedure.
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E.2.3 | Trial contains a sub-study | No |
E.3 | Principal inclusion criteria |
Inclusion criteria • Patients diagnosed with FA confirmed by chromosomal instability test with diepoxybutane or mitomycin C. • Age 1-15 years • At least one of the following parameters must exceed the values indicated: haemoglobin: 8.0 g/dL; neutrophils: 750/mm3; platelets: 30.000/mm3. • Lansky index > 60%. • Left ventricular ejection fraction > 50%. • Provide informed consent in accordance with current legislation. Parent/Guardian consent and assent where appropriate • Women of childbearing potential must have a negative pregnancy test in serum or urine at the screening visit, and accept the use of adequate contraception method from, at least, the 14 days prior to the first dose of mobilisation treatment until 14 days after the last.(N/A for children)
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E.4 | Principal exclusion criteria |
Exclusion criteria • Evidence of myelodysplastic syndrome or leukaemia, or cytogenetic abnormalities predictive of these conditions in bone marrow aspirate analysis. This assessment should be made by valid studies two months before the initial assessment. • Patients with active infectious process or other serious underlying medical condition including malignancy. • Severe (≥ grade 3) functional organ impairment (liver, kidney, respiratory) according to the criteria of the National Cancer Institute (NCI CTCAE v4.03). • Previously received haematopoietic transplantation. • Any concomitant disease or condition that, in the opinion of the investigator, deems the subject unfit to participate in the study. • Patients who, after a psychosocial assessment, are censored as unfit for the procedure. • Patients who have received blood transfusions in the previous three months. • Pregnant or breastfeeding women (N/A for children)
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E.5 End points |
E.5.1 | Primary end point(s) |
The primary outcome measure is to determine the safety of mobilising CD34+ cells after treatment with filgrastim and plerixafor for subsequent use in a gene therapy trial in patients diagnosed with Fanconi anaemia. |
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E.5.1.1 | Timepoint(s) of evaluation of this end point |
Will be discussed with Collaborators |
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E.5.2 | Secondary end point(s) |
- To determine the efficacy of mobilising CD34+ cells into peripheral blood after treatment with filgrastim and plerixafor in patients diagnosed with Fanconi anaemia. - To determine the efficacy of CD34+ cell collection after treatment with filgrastim and plerixafor in patients diagnosed with Fanconi anaemia. - To determine the efficacy of selecting haematopoietic progenitors (CD34+ cells) from the product of apheresis using an immunomagnetic procedure.
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E.5.2.1 | Timepoint(s) of evaluation of this end point |
Will be discussed with Collaborators |
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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 | No |
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) | No |
E.7.1.1 | First administration to humans | No |
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.8.3 |
The trial involves single site in the Member State concerned
| Yes |
E.8.4 | The trial involves multiple sites in the Member State concerned | No |
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 | Yes |
E.8.6.2 | Trial being conducted completely outside of the EEA | No |
E.8.6.3 | If E.8.6.1 or E.8.6.2 are Yes, specify the regions in which trial sites are planned |
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E.8.7 | Trial has a data monitoring committee | Yes |
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
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The end of the study is defined as the last patient’s last scheduled visit according to the protocol, which will be the 1 year followup visit of the last patient entered into the trial. In case the study is ended prematurely, the sponsor will notify Ethics and the MHRA within 15 days, including the reasons for the premature termination |
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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 | 1 |
E.8.9.1 | In the Member State concerned months | 11 |
E.8.9.1 | In the Member State concerned days | 28 |
E.8.9.2 | In all countries concerned by the trial years | 3 |
E.8.9.2 | In all countries concerned by the trial months | 0 |