AuthorisedTherapeutic confirmatory (Phase III)Interventional

Cannabidiol (Epidyolex) for behavioural problems in patients with Tuberous Sclerosis Complex, Sanfilippo and Fragile X syndrome: an N-of-1 series

This research study is investigating if a special medicine called Epidyolex can help people with certain genetic conditions manage behaviour problems. The medicine contains cannabidiol, often called CBD. The conditions being studied are Tuberous Sclerosis Complex, Sanfilippo syndrome, and Fragile X syndrome, which can often lead to challenges with behaviour. Researchers will particularly focus on how the medicine affects irritability. They will also look at whether it improves overall symptoms, quality of life, anxiety, mood, and even seizure frequency. The study aims to understand if Epidyolex is an effective and safe treatment for these behavioural issues in both children and adults.

At a glance

Status

Authorised

Phase

Therapeutic confirmatory (Phase III)

Sponsor

Amsterdam UMC Stichting

Enrolment target

Start

30 Oct 2025

Tuberous Sclerosis Complex (TSC)Sanfilippo syndrome Fragile X syndrome (FXS)

What is this study about?

This study is looking into a medicine called Epidyolex, which contains a substance called cannabidiol (CBD). CBD comes from the cannabis plant, but it's different from the part that makes people feel 'high'. The aim is to see if Epidyolex can help with behaviour problems in people who have Tuberous Sclerosis Complex, Sanfilippo syndrome, or Fragile X syndrome. These are genetic conditions that can affect many parts of the body and often lead to various challenges, including difficulties with behaviour.

The main thing the researchers want to find out is whether Epidyolex reduces irritability, which is when someone gets easily annoyed or upset. But they will also check a lot of other things, like how the medicine affects a person's overall quality of life, their mood, anxiety levels, and if it helps with autism-like symptoms or sensory issues. For those who experience seizures, the study will also track if the medicine helps with how often these happen.

This kind of study is called a 'Phase III' trial, which means it’s a later stage of research. It's designed to confirm whether the treatment is truly effective and safe for a wider group of people before it might become more widely available. It's a very important step to understand if Epidyolex could offer a new way to help manage some of the difficult behavioural challenges faced by those with these conditions.

Key takeaways

The study tests Epidyolex (CBD) for behaviour problems.
It's for people with Tuberous Sclerosis Complex, Sanfilippo, or Fragile X syndrome.
Researchers are looking at irritability, mood, anxiety, and quality of life.
Participants must be 18 years or older.
This is a Phase III study, checking if the treatment is effective and safe.
Your health will be carefully monitored if you take part.

Who may be eligible?

This study is looking for both male and female participants.

To be considered for this study, you or the person you care for must be at least 18 years old. This means children under 18 cannot take part.

Participants must have one of these specific conditions: Tuberous Sclerosis Complex, Sanfilippo syndrome, or Fragile X syndrome.

Quick self-check

Are you, or the person you care for, 18 years old or older?
Do you, or the person you care for, have Tuberous Sclerosis Complex (TSC)?
Do you, or the person you care for, have Sanfilippo syndrome?
Do you, or the person you care for, have Fragile X syndrome (FXS)?
Are you willing to potentially take a new medicine as part of the study?

This is a guide only — the research team will confirm whether you can take part.

What does participation involve?

We do not have detailed information about what taking part in this specific trial involves, such as the number of visits, types of assessments, or the overall duration of the study. Typically, studies like this might involve regular visits to a clinic for health checks, questionnaires to fill out about behaviour and well-being, and keeping a diary of any changes or events. You would receive the study medication (Epidyolex) and might be asked to take it regularly as instructed. There would also be follow-up appointments to monitor your health and the effects of the medicine.

Potential risks and benefits

Taking part in a study like this might offer a chance to try a new treatment that could help with challenging behaviours and potentially improve quality of life. However, there are also potential risks; medicines can have side effects, and Epidyolex might not work for everyone. There will be careful monitoring for any unwanted effects on your health, including checks on liver function. You'll always have the right to withdraw from the study at any time without giving a reason, and it won't affect your regular medical care.

Locations (1)

—
Netherlands

Common questions

What is Epidyolex?

Epidyolex is a medicine that contains cannabidiol (CBD), which comes from the cannabis plant. It's used in this study to see if it can help with certain behaviour problems.

What conditions is this study looking at?

This study is for people with Tuberous Sclerosis Complex, Sanfilippo syndrome, and Fragile X syndrome.

What kinds of problems are they trying to help?

The study mainly looks at reducing irritability and other behaviour problems, as well as checking mood, anxiety, and overall quality of life.

Who can take part in this study?

Anyone aged 18 years or older, male or female, who has one of the three specific conditions can be considered.

Are there any side effects?

Like all medicines, Epidyolex can have side effects. Researchers will carefully check your health, including liver function, throughout the study.