AuthorisedTherapeutic exploratory (Phase II)Interventional

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)

This study is looking into a medicine called perampanel, also known as Fycompa, for adults aged 18 and older with White-Sutton syndrome (sometimes called POGZ-Related Disorder). We want to understand if this medicine can help improve behavioural symptoms and make a real difference to their quality of life. Participants will take either 2mg or 4mg tablets of the medicine. Researchers will compare how participants feel and behave before taking the medicine and again after 6 months. They will also look at other aspects of health and thinking over 12 to 18 months. The main goal is to see if the medicine is safe and works to help those with the condition.

At a glance

Status

Authorised

Phase

Therapeutic exploratory (Phase II)

Sponsor

Istituto Di Ricovero E Cura A Carattere Scientifico Materno Infantile Burlo Garofolo

Enrolment target

Start

03 Feb 2025

White-Sutton syndrome (POGZ-Related Disorder)

What is this study about?

This study is about a condition called White-Sutton syndrome, which is a rare genetic disorder. It can cause various symptoms, including developmental delays and changes in behaviour. Currently, there isn't a specific treatment for the underlying cause of White-Sutton syndrome, so doctors often focus on managing the symptoms.

Researchers are investigating whether a medicine called perampanel, which is already used to treat epilepsy, could be helpful for adults with White-Sutton syndrome. They believe it might improve some of the behavioural symptoms and, in turn, enhance their overall quality of life. This is a "repurposing" study, meaning they are looking at an existing medicine for a new use.

During the study, participants will take perampanel tablets. Doctors will carefully study their behaviour and general well-being before they start the medication and then again after 6, 12, or 18 months. They'll use special questionnaires and assessments to measure any changes. This will help them understand if the medicine is safe and if it makes a positive difference for people living with White-Sutton syndrome.

Key takeaways

This study explores a new use for an existing medicine, perampanel, for White-Sutton syndrome.
The main goal is to see if it improves behaviour and quality of life in adults.
Participation involves taking tablets and having regular check-ups over 6 to 18 months.
It's open to adults aged 18 and over, both men and women.
Known risks and potential benefits will be fully explained before you decide to join.

Who may be eligible?

To be part of this study, you need to be an adult, meaning 18 years old or older. There is no upper age limit, so people of all adult ages are welcome to consider taking part.

Both men and women can join this study. The researchers want to include a diverse group of participants to get a broad understanding of how the medicine might affect different people with White-Sutton syndrome.

Specific medical details about your White-Sutton syndrome will be reviewed by the study doctors to make sure the trial is right for you and that taking part would be safe. They will discuss all the requirements with you and your family.

Could this study suit you?

Answer these quick questions to see if you may be eligible. This is a guide only — the research team makes the final call.

Are you 18 years old or older?
Do you have a confirmed diagnosis of White-Sutton syndrome?
Are you able to take tablets as prescribed?
Are you willing to attend regular study appointments and complete questionnaires?

Answer every question to see your result.

What does participation involve?

If you decide to take part, you will be given perampanel tablets (either 2mg or 4mg) to take. Before you start, the study team will do a full check-up, ask about your medical history, and complete some questionnaires regarding your behaviour and thinking abilities. This initial assessment is called the 'baseline'.

After you begin taking the medicine, you will have follow-up visits. The main check will be at 6 months, where you'll complete the same behaviour questionnaires again. There will also be further assessments at 12 or 18 months to see any longer-term effects. These follow-up visits will involve similar checks and further questionnaires. The team will also keep track of any changes in your health or any side effects you might experience throughout the study.

Potential risks and benefits

Taking part in any study has potential benefits and risks. A potential benefit of this study is that perampanel might help improve behavioural symptoms and your quality of life, but this is what the study is trying to find out. As perampanel is an existing medicine, its known side effects will be discussed with you in detail, and these could include dizziness or tiredness. Every effort will be made to monitor your health closely throughout the study. You have the right to withdraw from the study at any time, for any reason, without it affecting your usual medical care.

Locations (1)

Some site locations are approximate. We're improving this — please verify with the trial team before travelling.

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Unverified
Italy

Common questions

What is White-Sutton syndrome?

It's a rare genetic condition that can cause developmental delays and behavioural difficulties.

What is perampanel?

It's a medicine already used to treat epilepsy, and researchers are seeing if it can help with White-Sutton syndrome.

How long will the study last?

Assessments will be done at the start, at 6 months, and again at 12 or 18 months.

Will I know if I'm getting the medicine?

Yes, in this study, all participants will receive the active medicine, perampanel.

What kind of tests will I have?

You'll have physical exams, be asked about your medical history, and complete questionnaires about your behaviour and thinking.