Authorised Therapeutic exploratory (Phase II) White-Sutton syndrome (POGZ-Related Disorder)

A Multicentric, Drug-Repositioning, Self Controlled Case Series (SCCS) Clinical Trial to Evaluate the Efficacy and Safety of Perampanel in Improving Behavioral Symptoms and Increasing the Quality of Life in Patients with White-Sutton syndrome (POGZ-Related Disorder)

EU CTIS ID: 2025-520611-14-00

What this study is testing

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 (Figure 1). 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’). Subjects with improvement will continue with the same dosage of Perampanel until month 12, while those with no positive effects will receive a double dosage until month 18

Therapeutic exploratory (Phase II)

A plain-language read of the study's public EU CTIS listing. The study team confirms the details.

Who can take part

You may be able to join if

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. All females must have a negative serum beta-human chorionic gonadotropin test result or a negative urine pregnancy test result at baseline. For the evidence reported in pre-clinical results from animal models (http://www.ema.europa.eu) as well as in clinical studies16 (see for details the paragraph n. 10.3.1 about ‘Pregnancy’), following the Clinical Trials Facilitation and Coordination Group (CTFG) 21/09/2020 guidance, Perampanel is supposed to fit the ‘Unlike human teratogenicity/fetotoxicity’ risk category. In this category, women of childbearing potential (WOCBP) included in the clinical trial have to agree to use a medically acceptable method of contraception (eg, abstinence, an intrauterine device, a double barrier method such as condom plus spermicide or condom plus diaphragm with spermicide, a contraceptive implant, an oral contraceptive or have a vasectomized partner) throughout the entire study period and for 30 days after study drug discontinuation. The only female subjects who may be exempted from this requirement are those who have been sterilized surgically or who are otherwise proven sterile (ie, bilateral tubal ligation with surgery at least 6 months prior to dosing, hysterectomy, or bilateral oophorectomy with surgery at least 2 months prior to dosing). All women who are of reproductive potential and who are using hormonal contraceptives will be required to be on a stable dose of the same hormonal contraceptive product for at least 12 weeks prior to the first pregnancy testing and must continue to use the same contraceptive during the study and for 30 days after study drug discontinuation. As the maximum dose of Perampanel for patients enrolled in the study will be 8 mg per day –ie the upper end of the maintenance dose range recommended for the treatment of epilepsy (see paragraph n. 7.1, ‘Study Treatment Administered’) –additional non-hormonal forms of contraception will not be recommended to women on progesterone-containing hormonal contraceptives. Instead, no contraception measures are needed for male subjects included in the clinical trial with pregnant or non-pregnant WOCBP partner
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.

You likely can't join if

1. Medical Conditions: other, concomitant diagnosis of a genetic neurodevelopmental disorder.
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.
2. Severe ID.
3. Epilepsy

See the full eligibility criteria

Who can join

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. All females must have a negative serum beta-human chorionic gonadotropin test result or a negative urine pregnancy test result at baseline. For the evidence reported in pre-clinical results from animal models (http://www.ema.europa.eu) as well as in clinical studies16 (see for details the paragraph n. 10.3.1 about ‘Pregnancy’), following the Clinical Trials Facilitation and Coordination Group (CTFG) 21/09/2020 guidance, Perampanel is supposed to fit the ‘Unlike human teratogenicity/fetotoxicity’ risk category. In this category, women of childbearing potential (WOCBP) included in the clinical trial have to agree to use a medically acceptable method of contraception (eg, abstinence, an intrauterine device, a double barrier method such as condom plus spermicide or condom plus diaphragm with spermicide, a contraceptive implant, an oral contraceptive or have a vasectomized partner) throughout the entire study period and for 30 days after study drug discontinuation. The only female subjects who may be exempted from this requirement are those who have been sterilized surgically or who are otherwise proven sterile (ie, bilateral tubal ligation with surgery at least 6 months prior to dosing, hysterectomy, or bilateral oophorectomy with surgery at least 2 months prior to dosing). All women who are of reproductive potential and who are using hormonal contraceptives will be required to be on a stable dose of the same hormonal contraceptive product for at least 12 weeks prior to the first pregnancy testing and must continue to use the same contraceptive during the study and for 30 days after study drug discontinuation. As the maximum dose of Perampanel for patients enrolled in the study will be 8 mg per day –ie the upper end of the maintenance dose range recommended for the treatment of epilepsy (see paragraph n. 7.1, ‘Study Treatment Administered’) –additional non-hormonal forms of contraception will not be recommended to women on progesterone-containing hormonal contraceptives. Instead, no contraception measures are needed for male subjects included in the clinical trial with pregnant or non-pregnant WOCBP partner
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.

What rules you out

1. Medical Conditions: other, concomitant diagnosis of a genetic neurodevelopmental disorder.
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.
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 as assessed by the Columbia-Suicide Severity Rating Scale (C-SSRS).

The study team makes the final eligibility decision.

Questions & answers

Do participants get paid in this trial?

This listing doesn't specify compensation. Many trials still reimburse travel or offer a stipend, so it's worth asking the study team when you connect.

Is it free to join, and do I need insurance?

Searching and applying through BridgeMD is free. In clinical trials the study-related treatment and visits are generally provided at no cost to you. You usually don't need insurance to take part - confirm specifics with the study team.

How long does this study last?

The listing doesn't state an exact length. The study team walks you through the schedule and number of visits before you decide to enroll.

Who can join this trial?

This study is enrolling all sexes, 0-17 years, 18-64 years. The study team makes the final eligibility decision.

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BridgeMD is an information and trial-matching tool - not medical advice, and not the study sponsor. Details come from EU CTIS; the study team decides eligibility.