E.1 Medical condition or disease under investigation |
E.1.1 | Medical condition(s) being investigated |
Molybdenum CoFactor Deficiency (MoCD) Type A |
Déficit en molybdène (MoCoD) de type A |
|
E.1.1.1 | Medical condition in easily understood language |
Molybdenum CoFactor Deficiency |
Déficit en molybdène |
|
E.1.1.2 | Therapeutic area | Diseases [C] - Nutritional and Metabolic Diseases [C18] |
MedDRA Classification |
E.1.2 Medical condition or disease under investigation |
E.1.2 | Version | 19.0 |
E.1.2 | Level | PT |
E.1.2 | Classification code | 10069687 |
E.1.2 | Term | Molybdenum cofactor deficiency |
E.1.2 | System Organ Class | 10010331 - Congenital, familial and genetic disorders |
|
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 evaluate the safety and efficacy of ALXN1101 in neonate patients with MoCD Type A |
Evaluer l'efficacité et la sécurité d'emploi de l'ALXN1101 chez les nouveau-nés atteints de MoCoD de type A |
|
E.2.2 | Secondary objectives of the trial |
- To evaluate the effect of ALXN1101 on acquisition of developmental milestones
- To evaluate the effect of ALXN1101 on pediatric measures of functional ability and activities of daily living
- To characterize the pharmacokinetics (PK) of ALXN1101 |
- Evaluer l'effet de l'ALXN1101 sur l'acquisition des étapes principales du développement
- Evaluer l'effet de l'ALXN1101 sur les mesures pédiatriques des capacités fonctionnelles et des activités de la vie quotidienne
- Caractériser la pharmacocinétique (PK) de l'ALXN1101 |
|
E.2.3 | Trial contains a sub-study | No |
E.3 | Principal inclusion criteria |
- Male or female neonatal patients (1 to 28 days of age, [inclusive] at the time of ALXN1101 administration, with day 1 of age corresponding to the day of birth)
- Diagnosis of MoCD Type A, based on:
Prenatal genetic diagnosis, or
Onset of clinical and/or laboratory signs and symptoms consistent with MoCD Type A within the first 28 days after birth
- Parent or legal guardian must have signed the ICF prior to any study procedures being performed |
- Nouveau-né de sexe masculin ou féminin (âgé de 1 à 28 jours [inclus] au moment de l’administration de l’ALXN1101, le Jour 1 correspondant à son jour de naissance)
- Diagnostic de MoCoD de type A reposant sur :
Un diagnostic génétique prénatal ou
L’apparition de signes et symptômes cliniques et/ou des données de laboratoire correspondant à un MoCoD de type A dans les 28 jours suivant la naissance
- Le parent ou tuteur légal doit avoir signé le formulaire de consentement avant l’exécution de toute procédure de l’étude. |
|
E.4 | Principal exclusion criteria |
- Diagnosis other than MoCD Type A (may be determined after the initiation of study drug)
- Condition that is considered by the treating physician to be a contraindication to therapy, including evidence of abnormalities on brain imaging not attributable to MoCD, or that might otherwise interfere with the patient’s participation in the study, pose any additional risk for the patient, or confound patient assessments
- Antenatal and/or postnatal brain imaging prior to initiation of treatment with ALXN1101 that indicates cortical or subcortical cystic encephalomalacia, clinically significant intracranial hemorrhage, or other abnormalities on brain imaging determined by the treating physician to be clinically significant
- Modified Gasgow Coma Scale (mGCS) for Infants and Children score of less than 7 for more than 24 hours (This criterion does not apply to children less than 1 day of age)
|
- Un diagnostic autre qu’un MoCoD de type A (qui peut être déterminé après l’initiation du produit expérimental)
- Une condition qui de l’avis du médecin traitant est une contre-indication au traitement, notamment les signes sur les images cérébrales d’anomalies non attribuables au MoCoD de type A, ou susceptibles sinon de perturber la participation des patients à l’étude, de représenter un risque supplémentaire pour le patient ou de fausser ses évaluations
- Images cérébrales anténatales et/ou postnatales avant l’initiation du traitement par ALXN1101 indiquant une encéphalomalacie kystique corticale ou sous-corticale, hémorragie intracrânienne cliniquement significative ou autres anomalies à l’imagerie cérébrale que le médecin traitant aura déterminées comme étant cliniquement significatives
- Un score de Glasgow modifié [mGCS (modified Glasgow Coma Scale)] des nourrissons et des enfants inférieur à 7 pendant plus de 24 heures (ce critère ne s’applique pas aux enfants âgés de moins d’un jour) |
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E.5 End points |
E.5.1 | Primary end point(s) |
Response, defined as patients alive and able to sit upright independently for at least 30 seconds |
Réponse, définie par des patients toujours en vie et en mesure de rester assis bien droit sans assistance pendant au moins 30 secondes |
|
E.5.1.1 | Timepoint(s) of evaluation of this end point |
|
E.5.2 | Secondary end point(s) |
- Bayley Scales of Infant Development®- Third Edition (Bayley - III®) Cognitive and Motor Scales as measured
- Functional ability and activities of daily living, measured by the Pediatric Evaluation of Disability Inventory (PEDI)
- PK parameters
- Safety |
- Test de Bayley (Bayley Scales of Infant Development® – Troisième édition [Bayley – III]) Évaluations sur le développement cognitif et moteur mesurées
- Capacité fonctionnelle et activités de la vie quotidienne, mesurées par l’évaluation pédiatrique de l’inventaire d’invalidité (Pediatric Evaluation of Disability Inventory - PEDI)
- parameter pharmacocinetique
- Sécurité |
|
E.5.2.1 | Timepoint(s) of evaluation of this end point |
through Month 12 |
jusqu'au mois 12 |
|
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 | Yes |
E.6.7 | Pharmacodynamic | Yes |
E.6.8 | Bioequivalence | No |
E.6.9 | Dose response | Yes |
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) | Yes |
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.8.2.4 | Number of treatment arms in the trial | 1 |
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 | Yes |
E.8.5.1 | Number of sites anticipated in the EEA | 12 |
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 |
Canada |
Germany |
Israel |
Italy |
Malaysia |
Netherlands |
Saudi Arabia |
Spain |
Taiwan |
Tunisia |
Turkey |
United Kingdom |
United States |
|
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 | 3 |
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 years | 4 |
E.8.9.2 | In all countries concerned by the trial months | 10 |
E.8.9.2 | In all countries concerned by the trial days | 0 |