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Study on Perampanel for Improving Behavior and Quality of Life in Patients with White-Sutton Syndrome

Verified siteRegistered drugNo placebo
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What is this trial about?

A plain-language summary of the goals, design and what participants do

This clinical trial is focused on studying a condition known as White-Sutton syndrome, which is a disorder related to a mutation in the POGZ gene. The trial aims to evaluate the effectiveness and safety of a medication called Perampanel, which is available in the form of film-coated tablets. Perampanel is being tested to see if it can help improve behavioral symptoms and enhance the quality of life for individuals with White-Sutton syndrome.

The purpose of the study is to observe changes in behavior and daily functioning over time. Participants will take Perampanel orally, starting with a lower dose. If improvements are seen in their behavior after six months, they will continue with the same dosage for up to 12 months. If no improvements are observed, the dosage may be increased, and the study will continue for up to 18 months. The study will use tools like the Child Behavior Checklist (CBCL) and the Vineland Adaptive Behavior Scales (VABS) to measure changes in behavior and skills.

Throughout the study, participants' medical history, clinical features, and any changes in their condition will be recorded. The trial is designed to provide valuable insights into how Perampanel might benefit those with White-Sutton syndrome, potentially leading to better management of the condition. The study is expected to conclude by the end of 2025.

The research process

The trial runs in 5 steps – from screening to follow-up. Each step says what happens and what the team monitors.

  1. Step 1

    Initial assessment

    Upon joining the study, an initial assessment is conducted to evaluate baseline behavior and adaptive skills using the Child Behavior Checklist (CBCL) and Vineland Adaptive Behavior Scales (VABS).

  2. Step 2

    Medication administration

    The medication Fycompa, containing the active substance perampanel, is administered orally. The initial dosage is 4 mg or 2 mg film-coated tablets, depending on the specific requirements of the patient.

    The medication is taken daily for a period of 6 months.

  3. Step 3

    Midpoint evaluation

    After 6 months, a reevaluation is conducted using the CBCL and VABS to assess any improvements in behavior and adaptive skills.

    Improvement is defined as a positive shift in the scores of these scales.

  4. Step 4

    Adjustment of medication

    If improvement is observed, the current dosage of perampanel is maintained for an additional 6 months, totaling 12 months of treatment.

    If no improvement is observed, the dosage is doubled, and the treatment continues for an additional 12 months, totaling 18 months of treatment.

  5. Step 5

    Final evaluation

    At the end of the treatment period (either 12 or 18 months), a final evaluation is conducted using the same scales to determine the overall effectiveness of the treatment.

Who can join the trial?

4 criteria

  • Age: Participants must be between 4 and 25 years old.
  • Gender: Both males and females can participate. Females must have a negative pregnancy test before starting the study. Women who can have children must agree to use a reliable form of birth control during the study and for 30 days after stopping the study medication. This includes options like abstinence, an intrauterine device, or a combination of methods like a condom with spermicide. Women who have been surgically sterilized do not need to follow this requirement.
  • Type of Patient and Disease Characteristics: Participants must have a diagnosis of **White-Sutton syndrome (POGZ-Related Disorder)**. This means they have a specific change in the **POGZ** gene and show signs of a neurodevelopmental disorder. This can be a new mutation or one that runs in the family.
  • Informed Consent: Participants or their parents/legal representatives must provide written consent to join the study. If the participant is a minor or unable to give consent, their parent or legal representative will do so on their behalf.

Who cannot join the trial?

4 criteria

  • Individuals who do not have a diagnosis of White-Sutton syndrome cannot participate. This is a specific genetic condition.
  • Participants must be within the age range of 2 to 3 years old.
  • Both males and females are eligible, so gender is not a reason for exclusion.
  • Participants must not belong to a vulnerable population that requires special protection.
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Investigated drugs

Perampanel is a medication being tested in this clinical trial to see if it can help improve behavioral symptoms and increase the quality of life in patients with White-Sutton syndrome, a condition related to the POGZ gene. The trial aims to determine if taking Perampanel can lead to better scores on tests that measure behavior and daily functioning. If patients show improvement, they will continue taking the same amount of Perampanel for a year. If there is no improvement, the amount of Perampanel will be increased for a longer period to see if it helps.

What is already known about the treatment

Perampanel – Perampanel is administered orally in tablet form. It is currently being studied in clinical trials for its potential to improve behavioral symptoms and quality of life in patients with White-Sutton syndrome, a rare genetic disorder. The main therapeutic indication for this trial is to assess its efficacy in shifting behavior and adaptive skills from clinical to normal ranges. At the molecular level, Perampanel works by blocking certain receptors in the brain, which helps to reduce excessive neuronal activity. It is classified pharmacologically as an antiepileptic drug, although its use in this trial is focused on behavioral improvements rather than seizure control.

Investigated diseases

White-Sutton syndrome – This is a rare genetic disorder caused by mutations in the POGZ gene. It is characterized by developmental delays, intellectual disabilities, and distinctive facial features. Individuals with this syndrome may experience difficulties in communication and social interactions. Motor skills can also be affected, leading to challenges in coordination and movement. Behavioral issues such as hyperactivity or anxiety may be present. The progression of symptoms can vary widely among those affected.
Trial detailsLast updated 7 Oct 2026
Age18+ yearsPhasePhase IITrial ID2025-520611-14-00Protocol code5MILLE_CT1Estimated enrolment41 patientsSponsorIstituto Di Ricovero E Cura A Carattere Scientifico Materno Infantile Burlo Garofolo

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