E.1 Medical condition or disease under investigation |
E.1.1 | Medical condition(s) being investigated |
Sanfilippo type A syndrome (also named Mucopolysaccharidosis Type A) |
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MedDRA Classification |
E.1.2 Medical condition or disease under investigation |
E.1.2 | Version | 12.1 |
E.1.2 | Level | LLT |
E.1.2 | Classification code | 10056918 |
E.1.2 | Term | Sanfilippo's syndrome |
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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 assess the tolerance and safety associated to the proposed treatment through a one-year follow up. |
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E.2.2 | Secondary objectives of the trial |
To collect data to define exploratory tests that could become evaluation criteria for further clinical phase III efficacy studies (Brain MRI, neuro- and psychological tests and biological markers) |
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E.2.3 | Trial contains a sub-study | No |
E.3 | Principal inclusion criteria |
• Age: 18 (eighteen) months to end of 6 (six) years
• Onset of clinical manifestations related to MPSIIIA during the first 5 years of life
• SGSH activity in peripheral blood cell and/or cultured fibroblast extracts of less than 10% of controls.
• Patient affiliated to the social security
• Family understanding the procedure and the informed consent
• Signed informed consent
• Vital laboratory parameters within normal range
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E.4 | Principal exclusion criteria |
• Presence of brain atrophy on pre-inclusion MRI judged on a cortico-dural distance of more than 1cm
• No independent walking (Ability to walk without help)
• Any condition that would contraindicate permanently anaesthesia
• Any other permanent medical condition not related to MPSIIIA
• Any vaccination 1 month before treatment
• Receipt of aspirin within one month
• Any medication aiming at modifying the natural course of MPSIIIA given during the 6 months before vector injection
• Any condition that would contraindicate treatment with Prograf®, Cellcept® and Solupred®
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E.5 End points |
E.5.1 | Primary end point(s) |
The safety parameters that will be evaluated are:
• Clinical parameters:
- during the 15 days after vector injection: fever (>38°C), seizure (anytype), headache (grade 3 or more on the pain scale), abnormal somnolence or lethargy, any new unexpected neurological symptoms
- during the one year follow-up: any infectious disease, any new neurological symptom, any liver, spleen or lymph node enlargement, any aphtous lesion, any chronic respiratory symptoms, any abnormal bleeding or paetechia
- after the one year protocol: any unexpected neurological or extra-neurological symptoms including malignancies.
• Radiological parameters:
- on the initial CT scan after surgery: any sign of bleeding
- on subsequent MRI: any hypersignal on T2 weighted images or diffusion images that are not at the points of injection, any necrotic area evaluated through T1-weighted and diffusion imaging as well as modification of lipids in spectroscopy
• Biological parameters: Parameters listed in sections Haematology and Biochemistry §3.2.2.3. In particular: anemia (<8 g/L haemoglobin), leucopenia (<1000 leucocytes/ml)), thrombopenia (< 100000 platelets/ml), liver dysfunction (>X3 normal for transaminases).
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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 | No |
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) | Information not present in EudraCT |
E.8.2.2 | Placebo | Information not present in EudraCT |
E.8.2.3 | Other | Information not present in EudraCT |
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 | No |
E.8.6.2 | Trial being conducted completely outside of the EEA | Information not present in EudraCT |
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 trial corresponds to the last visit of the last subject. |
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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 | 2 |
E.8.9.1 | In the Member State concerned months | 6 |
E.8.9.1 | In the Member State concerned days | 0 |
E.8.9.2 | In all countries concerned by the trial years | 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 |