AFQ056 for Language Learning in Children With FXS
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"If your child is between the ages of 32 months and 6 years and has fragile X syndrome, we invite them to take part in this study."
Age: 2 to 6 years old
Healthy Volunteers: No
Keywords: Fragile X Syndrome
Type: Drug study, Phase 2
10 Participants
There are two purposes of this study:
1.) To find out if the drug AFQ056, which is made by the pharmaceutical company named Novartis, is safe and has beneficial effects in children who have fragile X syndrome (FXS).
2.) To find out if a structured language intervention can help children with fragile X syndrome communicate better.

AFQ056 is an investigational drug that is not approved for use for the treatment of people with FXS by the U.S. Food and Drug Administration (FDA). It is not currently “on the market” (available for you to buy) in any country.

Fragile X syndrome is a genetic disorder – which means that your child was born with it. We all have unique characteristics that make us individual. These characteristics are carried by "genes‟ in our body's cells. In fragile X syndrome, part of a gene is damaged. The current theory is that this gene is "switched off‟ in patients with fragile X syndrome. It cannot produce enough of a protein the brain needs. This protein is called FMRP and helps brain cells respond to messages properly.

AFQ056 is an oral (given by mouth) study drug. It is being developed for patients with fragile X syndrome. It blocks a specific type of glutamate (a form of brain chemical or “neurotransmitter”) receptor called the mGluR5 receptor in the brain. A receptor can be thought of as a "lock‟ and AFQ056 as a "key‟ which fits into the lock to stop it from being active. The mGluR5 receptor is thought to be overactive in patients with fragile X syndrome due to lack of FMRP. AFQ056 can block the mGluR5 receptor and decrease activity in the mGluR5 pathway. By blocking the mGluR5 receptor and pathway in the brain, it is thought that AFQ056 may be able to compensate for some of the function of the missing FMRP. Thus, symptoms of fragile X Syndrome may be reduced.

We are asking if your child can take part in this research study because he/she is between the ages of 32 months and 6 years and has fragile X syndrome.
This study requires

If you choose to let your child take part in this study, your child will be given either AFQ056 or a placebo throughout the course of the study. A placebo contains no medicine (like a sugar pill). Placebos are used in research studies to see if the results are due to the study drug or due to other reasons.

After 12 months, all participants will take AFQ056 for 8 months during the open-label extension portion of the trial. Doses are increased or decreased depending on how your child tolerates the medicine and if your child has side effects.

Description of Assessments/Questionnaires There will be numerous surveys, tests, and questionnaires related to early learning, language, and behavior. They will take approximately 1 hour depending on the visit. Some of them will be done while your child is alone with a member of the study staff. You will be asked to complete some of the assessments or questionnaires as the parent/caregiver.

Screening Visit (Visit 1) Study Procedures: There are specific requirements that your child must meet in order to participate in this study. These will be checked by the Study Doctor at the Screening Visit. This initial visit will take approximately 6 to 7 hours.

If your child meets all entry criteria, your child will start taking the medicine (AFQ056 or placebo) twice daily. You will be given bottles with AFQ056 or placebo powder and bottled water that will be used to dissolve the powder. You, the parent/caregiver, will be responsible for mixing the drug and giving it to your child. You will learn how to dissolve the powder in the bottles while you are at the Screening visit. You will have weekly video conference calls with the study team. As a part of monitoring, they will observe you dissolving the study drug each week for the remainder of the study.

Some of the blood collected will also be used to perform genetic testing. We will study components of your child's blood that will help us to understand what happens when genes function abnormally. We want to know how other genes might be related to characteristics of disease in FXS. DNA is the building block of an individual's genetic make-up. We would like to store some of your child‟s blood and DNA samples, if leftover, for future research in fragile X.

Who can participate

Inclusion Criteria:

  1. Age 32 months to 6 years inclusive.
  2. Has an FMR1 full mutation.
  3. DQ<75 on the Mullen Early Learning Composite (ELC).
  4. Parent or legal guardian is available and able to communicate well with the investigator, comply with study requirements and provide written informed consent.
  5. English is the primary language spoken in the home and the subject’s first language is English.
  6. Meet criteria indicating evidence of intentional communication based on parent interview via a communication eligibility screening tool. Communication the child must have: a) Section 1: Answer of YES; the child uses at least 5 spoken words to label items on a daily basis. OR b) Section 2: At least 3 YES answers to items 1-10 if child does not have at least 5 spoken words.
  7. Produces 3 or more intentional acts of communication on the structured portion of the Weighted Communication play sample at time of screening.
  8. Stable behavioral and other therapy regimen for 30 days prior to screening. Note Patients will be allowed to continue their standard-of–care therapies throughout the trial but these will not be changed during the placebo lead-in or placebo-controlled portion of the trial, outside of standard changes occurring from school schedules.
  9. Stable dosing of all concurrent psychotropic medications for at least 60 days prior to screening. Note Medications impacting GABA, glutamate and/or mGluR5 pathway receptors are exclusionary and not permitted during study participation.

Exclusion Criteria:

  1. Use of medications impacting GABA, glutamate and/or mGluR5 pathway receptors or transmission. Note Treatment with acamprosate, amantadine, budipine, carbetocin, cycloserine, dextromethorphan, felbamate, ketamine, lithium, minocycline, memantine, oxytocin, remacemide, racemic baclofen, riluzole, fycampa, investigational mGluR5 medications, and/or statins are exclusionary.
  2. Unstable seizure disorder as defined by any seizure in the 6 months prior to the screening visit, and/or any change in anti-convulsant drug dosing in the 60 days prior to screening. Note Use of levetiracetam and oxcarbazepine are among permitted anticonvulsants.
  3. Use of any other investigational drug at the time of enrollment or within 30 days or 5 half lives (whichever is longer) of the investigational drug prior to screening until end of study visits (or longer if required by local regulations).
  4. History of hypersensitivity to AFQ056 or any mGluR antagonist.
  5. History or presence of any clinically significant disease of any major system organ class, within the past 2 years prior to screening including but not limited to neurological, cardiovascular, endocrine, metabolic, renal, or gastrointestinal disorders. This does not include typical features of FXS such as psychological symptoms or history of epileptic seizures.
  6. Significant acute illness that did not completely resolve at least four weeks prior to the first baseline visit.
  7. Abnormal laboratory values at screening or first baseline that are in the opinion of the investigator are clinically significant and may jeopardize the safety of the study subject.
  8. Use of (or use within at least 5 half -lives before dosing) concomitant medications that are strong/moderate inhibitors or inducers of CYP1A1/2, CYP2C9/19 or CYP3A4.
  9. Subjects who are, in the opinion of the investigator, unable to comply with the requirements of the study.
  10. History or presence of immunodeficiency diseases, including a positive HIV test result.
  11. A positive Hepatitis B surface antigen (HBsAg) or Hepatitis C result at screening.
Benefits and risks of participating

We cannot promise any benefit to you as a result of taking part in this research study.


The study doctor will discuss the risks associated with taking part in this research study.
We will pay $34/day for parking for your time and effort. If your child participates in all study visits, you will be paid a total of $510.
Study duration and period
It will take your child approximately 21 months to complete this study. During this time, we will ask you and your child to make about 15 in-person study visits.
Recruitment period
From Nov. 17, 2017
UC Davis Medical Center
2315 Stockton Boulevard
Sacramento, CA 95817
Research Topic
  • Fragile X Syndrome

Have any questions or want to learn more? Leave your contact details below and the research team will reach out to you.


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