E.1 Medical condition or disease under investigation |
E.1.1 | Medical condition(s) being investigated |
Pelizaeus-Merzbacher disease |
|
E.1.1.1 | Medical condition in easily understood language |
A severe brain disease precluding normal brain development and leading to severe multiple handicaps |
|
E.1.1.2 | Therapeutic area | Diseases [C] - Nervous System Diseases [C10] |
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 |
to study the effect of deferiprone on gross motor function in children with PMD |
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E.2.2 | Secondary objectives of the trial |
• Quantitative brain MRI parameters: Diffusion Tensor Imaging (DTI) Chemical Shift Imaging (CSI) Neurite Orientation Dispersion and Density Imaging (NODDI) Myelin Water Fraction Imaging (MWFI) • Clinical parameters: General health and quality of life: Health Utility Index (HUI) Hand function: Manual Ability Classification System (MACS) Communication: Communication Function Classification System (CFCS) Swallowing function: Eating and Drinking Ability Classification System (EDACS) • Electrophysiological parameters EEG Exploratory endpoints • Exploratory search for biomarkers in body fluids |
|
E.2.3 | Trial contains a sub-study | No |
E.3 | Principal inclusion criteria |
Genetically proven PMD with a clinically relevant mutation in PLP1 (missense mutation or duplication/triplication) and an MRI compatible with the diagnosis, in a male child. Present age between 6 months and 8 years of age. Connatal or classic form of the disease (defined as not being able to sit without support and/or a mutation predicting this form - known missense mutations associated with severe forms). |
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E.4 | Principal exclusion criteria |
- important comorbidity as another genetic disease - liver or kidney disease - neutropenia in patient's history - severe iron deficiency |
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E.5 End points |
E.5.1 | Primary end point(s) |
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E.5.1.1 | Timepoint(s) of evaluation of this end point |
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E.5.2 | Secondary end point(s) |
• Quantitative brain MRI parameters: Diffusion Tensor Imaging (DTI) Chemical Shift Imaging (CSI) Neurite Orientation Dispersion and Density Imaging (NODDI) Myelin Water Fraction Imaging (MWFI) • Clinical parameters: General health and quality of life: Health Utility Index (HUI) Hand function: Manual Ability Classification System (MACS) Communication: Communication Function Classification System (CFCS) Swallowing function: Eating and Drinking Ability Classification System (EDACS) • Electrophysiological parameters EEG Exploratory endpoints • Exploratory search for biomarkers in body fluids. |
|
E.5.2.1 | Timepoint(s) of evaluation of this end point |
0, 6 and 12 months for clinical parameters 0 and 12 for MRI and biomarkers |
|
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 | No |
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 | Yes |
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
| 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
|
|
E.8.9 Initial estimate of the duration of the trial |
E.8.9.1 | In the Member State concerned years | 2 |
E.8.9.1 | In the Member State concerned months | 0 |
E.8.9.1 | In the Member State concerned days | 0 |