Patients with POGZ related disorder MedDRA version: 20.0 Level: HLGT Classification code 10037173 Term: Psychiatric and behavioural symptoms NEC System Organ Class: 10037175 - Psychiatric disorders
Conditions
Interventions
Product Name: Fycompa
Product Code: [042581037]
Pharmaceutical Form: Coated tablet
INN or Proposed INN: PERAMPANEL
Current Sponsor code: Perampanel
Concentration unit: mg milligram(s)
Concentration ty
Sponsors
IRCCS MATERNO INFANTILE BURLO GAROFOLO
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1. Age: both pediatric and young adult population are eligible. A minimum age of 4 is required; the maximum age limit is 25 years. 2. Gender: male and/or female. Contraceptive use by men or women should be consistent with local regulations regarding the methods of contraception for those participating in clinical studies. 3. Type of Patient and Disease Characteristics: a diagnosis of WHSUS (POGZ-related disorder), defined as a molecular identification of a mutation in POGZ and a clinical diagnosis consistent with a neurodevelopmental disorder. Patients diagnosed with either de novo or familial POGZ mutation are eligible for enrollment. 4. Informed Consent: written consent will be given by the patients if capable or by parent(s)/legal representative if minors or incapable of giving informed consent. Are the trial subjects under 18? yes Number of subjects for this age range: F.1.2 Adults (18-64 years) yes F.1.2.1 Number of subjects for this age range 5 F.1.3 Elderly (>=65 years) no F.1.3.1 Number of subjects for this age range
Exclusion criteria
Exclusion criteria: Patients are excluded from the study if any of the following criteria apply: 1. Medical Conditions: other, concomitant diagnosis of a genetic neurodevelopmental disorder. 2. Severe ID. 3. Epilepsy. 4. Pregnancy. 5. Prior adverse effect to non-competitive AMPA receptor agonist/Perampanel. 6. Contraindication to non-competitive AMPA receptor agonist/Perampanel. 7. Being already in therapy with non-competitive AMPA receptor agonist/Perampanel. 8. Therapy with CYP3A inhibitors (clarithromycin, stiripentol, valproate)/inductors (oral steroids, PHT, CBZ, PB, Primidone), unless there is a proper wash out period before stating treatment with Perampanel 9. History of attempted suicide or suicidal ideation, or current suicidal ideation. 10. Other Exclusions: breastfeeding, or intending to conceive during the course of the study. 11. Any condition that in the investigator’s opinion would present an unreasonable risk to the participant. 12. Any participant considered by the investigator unsuitable to receive Perampanel or unable or unlikely to comply with the dosing schedule or the study evaluations. There is no lifestyle restriction for this study.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Main Objective: The primary study outcome will be the improvement on the Child Behavior Checklist (CBCL) scores and/or on the Vineland Adaptive Behavior Scales (VABS) scores between before and 6 months after treatment.;Secondary Objective: 1- To evaluate the improvement on the CBCL scores between before and 12 or 18 months after treatment. 2- To evaluate the improvement on the VABS scores between before and 12 or 18 months after treatment. 3- To evaluate the improvement between before and 12 or 18 months after treatment on scores of neuropsychological tests -selected to evaluate cognitive, motor, speech and language, emotion/reciprocal social interaction areas, attention and executive function- as well as on scores from questionnaires for aggressive behavior, quality of life and psychopathology. 4- To evaluate the frequency and grade of adverse events. 5- To investigate the association between the genotype and the therapeutic outcome. 6- To study epigenetic signature before and during Perampanel treatment. 7- To collect and analyze molecular and clinical data of POGZ-affected subjects.;Primary end point(s): The improvement on CBCL is defined as the shifting from ‘Clinical’ to ‘Borderline clinical’ or from ‘Borderline clinical’ to ‘Normal’ in at least one of the CBCL subscales (‘Internalization’, ‘Exteriorization’, ‘Other problems’ and ‘Total’). The improvement on VABS is defined as the shifting from ‘Low’ to ‘Moderately low’ or from ‘Moderately low’ to ‘Normal’) in ate least one of the VABS subscales (among ‘Communication’, ‘Daily living skills’, ‘Socialization’, ‘Motor skills’, or ‘Total’).;Timepoint(s) of evaluation of this end point: At month 6 after the beginning of Perampanel administration | — |
Countries
Belgium, Denmark, France, Italy, Netherlands, Poland, Switzerland
Contacts
Public ContactSCR Epidemiologia e Biostatistica
IRCCS Materno Infantile Burlo Garofolo
Outcome results
None listed