Arbaclofen for Deletion Syndrome

Not currently recruiting at 3 trial locations
PW
KW
Overseen ByKaren Walton-Bowen
Age: < 18
Sex: Any
Trial Phase: Phase 2
Sponsor: Clinical Research Associates, LLC
Must be taking: Antiepileptics
Prior Safety DataThis treatment has passed at least one previous human trial

What You Need to Know Before You Apply

What is the purpose of this trial?

This trial tests a medication called arbaclofen to determine its safety and effectiveness for children and teens with 16p11.2 deletion syndrome, a genetic condition that often affects development and behavior. The trial aims to improve symptoms by comparing arbaclofen to a placebo (a pill with no active medication). Participants must have this genetic condition, receive educational or therapeutic support, and not have experienced seizures in the past 6 months. As a Phase 2 trial, the research focuses on measuring the treatment's effectiveness in an initial, smaller group of people.

Will I have to stop taking my current medications?

The trial requires that your current medication regimens be stable for 30 days before starting. You cannot start new medications or change your current ones during the study. Some specific medications, like antipsychotics and certain drugs with anxiolytic properties, are not allowed.

Is there any evidence suggesting that arbaclofen is likely to be safe for humans?

Research shows that people usually tolerate arbaclofen well. The FDA has already approved it for treating muscle stiffness, indicating its safety for that use. In studies examining its use for 16p11.2 deletion syndrome, no serious side effects were reported. However, some individuals might experience mild side effects like dizziness, tiredness, or nausea. Discuss any concerns with the trial team and your doctor.12345

Why do researchers think this study treatment might be promising?

Unlike the standard treatment options for Deletion Syndrome, which primarily focus on managing symptoms with behavioral therapy and medications like antipsychotics, arbaclofen introduces a novel approach by targeting the GABA-B receptor. This mechanism of action aims to improve social and communication difficulties by enhancing inhibitory neurotransmission in the brain. Researchers are excited about arbaclofen because it offers a more targeted way to address core symptoms of Deletion Syndrome, potentially leading to more effective and specific symptom relief compared to existing therapies.

What evidence suggests that arbaclofen might be an effective treatment for deletion syndrome?

Research has shown that arbaclofen, which participants in this trial may receive, may help treat conditions caused by certain genetic deletions. In earlier studies, arbaclofen improved thinking and memory problems in mice with 16p11.2 deletion syndrome. Other studies have found that arbaclofen can help with social challenges in conditions like autism and Fragile X syndrome, suggesting it might also benefit people with 16p11.2 deletions. The drug balances certain brain signals, potentially leading to better behavior and thinking. While more research is needed, these early results suggest arbaclofen could be helpful for those with 16p11.2 deletion syndrome.56789

Who Is on the Research Team?

PW

Paul Wang, MD

Principal Investigator

Clinical Research Associates, LLC

Are You a Good Fit for This Trial?

This trial is for children aged 5-17 with a genetic condition called 16p11.2 deletion syndrome, who need educational or therapeutic support and have stable medication regimens. They must not be planning to change treatments during the study, can't be on certain medications like antipsychotics or more than two psychoactive drugs, and should not have had seizures recently.

Inclusion Criteria

I have a 16p11.2 BP4-BP5 deletion diagnosis.
My medications have not changed in the last 30 days.
The subject's parent/caregiver/LAR must be able to speak and understand English sufficiently to understand the nature of the study and to allow for the completion of all study assessments. The parent/caregiver/LAR should be capable of providing reliable information about the subject's condition, agree to oversee the administration of the study drug, and accompany the subject to all clinic visits. The same parent/caregiver/LAR should accompany the subject to each visit
See 6 more

Exclusion Criteria

I am currently taking more than 2 medications for mental health, not counting as-needed sleep aids.
I have been treated with baclofen in the last 30 days.
I cannot or do not want to take medicine that dissolves in the mouth.
See 12 more

Timeline for a Trial Participant

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Treatment

Participants receive either placebo or arbaclofen for 16 weeks with flexible dosing

16 weeks
Multiple visits (in-person), multiple phone communications

Tapering

Participants taper off the study drug after the treatment period

2-4 weeks

Follow-up

Participants are monitored for safety and effectiveness after treatment

4 weeks

Open-label extension (optional)

Participants may opt into continuation of arbaclofen treatment long-term

What Are the Treatments Tested in This Trial?

Interventions

  • Arbaclofen
  • Placebo
Trial Overview The trial tests arbaclofen against a placebo in kids with deletion syndrome to see if it's safe and works well. It's randomized and double-blind, meaning neither the researchers nor participants know who gets the real drug versus placebo until after the results are collected.
How Is the Trial Designed?
2Treatment groups
Experimental Treatment
Placebo Group
Group I: ArbaclofenExperimental Treatment1 Intervention
Group II: PlaceboPlacebo Group1 Intervention

Find a Clinic Near You

Who Is Running the Clinical Trial?

Clinical Research Associates, LLC

Lead Sponsor

Trials
2
Recruited
90+

Citations

Allos Pharma Acquires Global Rights to Arbaclofen ...2 deletion syndrome. It has been administered to over 700 children, adolescents, and adults with ASD and FXS in previous trials and demonstrated ...
Towards Preclinical Validation of Arbaclofen (R-baclofen) ...Arbaclofen rescued cognitive deficits seen in two 16p11.2 deletion mouse lines in traditional recognition memory paradigms. Using an ...
Neurodevelopmental outcome in 22q11.2 deletion ...The 22q11.2 deletion syndrome (22q11.2 DS) places affected individuals at an increased risk for neurodevelopmental/cognitive, behavioral and social–emotional ...
Going on Trial: Arbaclofen reboot; cell implants; psilocybin ...Children with 22q11.2 deletion syndrome who received the transdermal cannabidiol gel Zygel showed significant improvement on multiple ...
Arbaclofen in Children and Adolescents with Autism ...A phase 2 randomized, placebo-controlled, crossover trial found that the GABA-B agonist arbaclofen improved social avoidance symptoms in FXS. A ...
22q11.2 Deletion Syndrome - GeneReviews® - NCBI - NIHIndividuals with 22q11.2 deletion syndrome (22q11.2DS) can present with a wide range of features that are highly variable, even within families.
DiGeorge syndrome (22q11.2 deletion syndrome)This condition is due to missing part of chromosome 22. It may cause heart issues, thyroid problems, cleft palate, lower immunity and other ...
Safety, Tolerability, and Efficacy of Arbaclofen in 16p11.2 ...This Phase 2 study examines the safety, tolerability, and efficacy of arbaclofen in pediatric subjects with 16p11.2 deletion. Male or female subjects aged 5 ...
DiGeorge Syndrome - StatPearls - NCBI BookshelfDiGeorge syndrome (DGS) is a congenital disorder with a broad phenotypic presentation, which results predominantly from the microdeletion of chromosome 22.
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