What is different about this trial?

This is a trial studying the effects of an investigational medication on learning in very young children. An investigational medication is a drug that is approved by the Food and Drug Administration (FDA) for testing in humans for a specified condition (in this case, Fragile X syndrome) but not approved for commercial marketing and sale. This medication is being paired with a language intervention for the child.

Where have I heard about this medication?

The medication, AFQ056 or Mavoglurant, is a so-called mGluR5 blocker. It works on a type of brain glutamate receptor called mGluR5 which is overactive in Fragile X syndrome.

This type of medication resulted in improvements in brain wiring and learning, and reversal of fragile X specific symptoms in the mouse, fly and rat in many studies.

This drug was used in two trials in adults and adolescents with Fragile X and did not show a behavioral benefit in 3 months, however, thinking and learning were not studied in those trials nor were the trials done in young children who have more capacity for change in thinking and learning. This trial is being done to answer the question of whether, like in animal models, the drug can improve learning in young children when they are still at an change when their brain still has lots of capacity for change.

What kind of language intervention will be used?

The language intervention is designed be flexible and work on whatever skills the child needs to gain next. It could improve ability to understand language and communicate non-verbally or it could improve vocabulary, increase length of statements or improve conversational or relatedness of language

Will I have to do an activity on a daily basis at home?

A family member will be taught the language intervention – a way of constantly working with the child to maximize his/her language – and then it will be important to use it at home as often as possible. Frequent use is how it will make the most impact.

About 6 months into the study the language intervention will begin and for the first four months from that point the family member delivering the language intervention will have to commit about 3 hours a week to training in the language intervention. After that training will only be about 1 hour per week but the family member will continue to use the intervention as much as possible with the child.

What are the ages?

The child has to be 32 months to start the study and can join up until his/her 7th birthday. If the child gets older than 7 during the study they still stay in the study, the age range is just for when a child starts the study.

Is this only for children with the full mutation of Fragile X syndrome? What about mosaicism?

Children who are mosaic can join the study, anyone with a full mutation in at least part of their cells is eligible. Children have to have developmental delay and be functioning at less than 75% of age level on a developmental test, showing they are delayed in learning, since improvement in learning is what is being studied.

Is it only for children in the U.S.?

Children from other countries can participate if they can get to a study site for the visits. Children can move to the USA to participate, but they have to come to one of the USA sites for the regular study visits to be in the study. Also the children and parent doing the language intervention must speak English as their main language as the language intervention has not been used in other languages before.

Why should I get involved?

People have various reasons for joining studies. You can help with development of a new treatment for Fragile X, if the study works. You can help with understanding how to do novel studies like this one. In this study even if the drug is not effective you will learn how to work best with your child to bring out language and increase the child’s ability to communicate.

Is there a site close to me? Are there funds to assist with travel?

There are 13 sites across the country so there may be a close site or you may have to travel some distance depending where you live. The grant for the study has funds for travel and will cover travel for families.

There are 15 visits – how long do they take and are you flexible on when they occur?

The study visits can take different amounst of time – some are just an hour or two and others are all day (6-8 hours – or can be divided into 2 days). They can occur typically within a 10 day range of time.

Could my child get the placebo? Would he/she ever get the real drug? Can he/she stay on it forever?

In the first year of the study half of the children will get placebo and half will get drug, after that everyone will get the drug for 8 months. At the end of the study patients will have to come off the drug. If the study shows the drug helps learning, we will work to figure out how to make it available to kids with Fragile X as fast as possible.

Who do I contact if I have more questions?

You can contact Katie Friedmann, RN, who is the National Coordinator at Katherine_j_friedmann@rush.edu or you can contact Anna DeSonia, who is the Rush study coordinator, or Dr. Berry-Kravis directly through the Rush Fragile X program. We will discuss with you and see that you are referred to the study site closest to you and if you would like to join the study we will work to get you in as soon as possible.

Why is it important for families to be involved in clinical trials?

If we want to have new medications that work on the brain mechanism of Fragile X syndrome like this medication and others that have been in clinical trials, we have to show the medications work through clinical trials. To do the trials we need patients and families to participate. The families with Fragile X children are partners with the clinical scientists and basic researchers who are trying to develop new treatments and get them approved so that we can improve the lives of those with Fragile X syndrome.

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