Rationale and study design for the first precision medicine randomized placebo-controlled trial in the 16p11.2 deletion syndrome.

This was a randomised controlled trial — people were assigned to treatments by chance, which is the most reliable way to tell whether a treatment itself caused a change.

The number of people who took part is not stated in this record, so the result cannot be judged on size.

The abstract does not include a conclusions section, so this page does not state what the researchers concluded.

This record does not state:

• the ages of the people who took part
• how long the study ran

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Journal: Expert review of neurotherapeutics

Year: 2026

Design: Randomized Controlled Trial

Intervention: 16p11.2 deletion syndrome

Co-occurring conditions: Chromosome Disorders, Intellectual Disability

Authors: Hannah M Rea, Julia T Mattson, Vardan Arutiunian, Alyssa Verdes, Suvekcha Bhattachan, Megha Santhosh, Abigail Garcia, Anika Ajwani, Meaghan Bowen, Susan Faja, Ellen Hanson, Katherine Pawlowski, Robin P Kochel, Lisa Prock, Jeremy Veenstra-VanderWeele, Karen Walton-Bowen, Adam Vogel, Angela Morgan, Sara Jane Webb, Paul P Wang

Chromosome 16p11.2 deletion syndrome is a genetic syndrome that includes difficulties in speech, language, and motor coordination. Arbaclofen, a selective GABA-B receptor agonist, has improved motor functioning and memory in mouse models. Prior clinical trials of arbaclofen in fragile X syndrome and autism spectrum disorder suggested benefit for social communication. L16hthouse (NCT04271332) is a multi-site, double-blind, randomized, placebo-controlled phase 2 trial to evaluate safety, efficacy, and tolerability of arbaclofen compared in 60 youths with 16p11.2 deletion syndrome (5 to 17:11 years) randomized on a 1:1 ratio. Primary outcomes included speech articulation, measured by the Goldman Fristoe Test of Articulation 3 (GFTA-3). Secondary outcomes included objective dysarthria indices, memory, motor control, and cognitive function, assessed with both standardized clinical measures and novel, computer-based assessments with automated scoring. Exploratory outcomes included attention, autism traits, and electrophysiological responses. L16hthouse is the first randomized trial in 16p11.2 deletion syndrome and uses an array of novel outcome measures to assess potential benefit in this population. In addition to providing potential insights about the safety, efficacy, and tolerability of arbaclofen, L16hthouse will provide an initial assessment of how these developmental outcome measures perform in a clinical trial across a broad age range.Clinical trial registration number: NCT04271332; 2020-02-13. The methods are described for a multi-site, double-blind, randomized controlled Phase 2 trial to evaluate the safety, efficacy, and tolerability of arbaclofen for youth with 16p11.2 deletion syndrome. The primary outcome measure was speech articulation, a key difficulty for youth with 16p11.2 deletion syndrome. The outcomes of this trial, combined with the parallel Canadian ARBA and European AIMS-CT-01 trials, will contribute to the evidence base of arbaclofen as a treatment for neurological and psychiatric conditions.

Expert review of neurotherapeutics, 2026

PMID 42080302

DOI 10.1080/14737175.2026.2655767

This record was extracted from the paper's PubMed abstract and metadata. Full-text methods and risk-of-bias details were not reviewed.