Trials Sponsors Conditions Drugs Pricing

Conditions

16P11.2 Deletion Syndrome

Outcome Measures

Primary Outcomes (1)

Goldman-Fristoe Test of Articulation, 3rd edition (GFTA-3), Sounds-in-Words
The GFTA-3 is the most widely used, standardized test of articulation for children and adolescents.
12 weeks

Secondary Outcomes (3)

Wide Range Assessment of Memory and Learning - 2nd edition (WRAML2)
12 weeks
Bruininks-Oseretsky Test - 2nd edition (BOT-2), Fine Motor Control and Body Coordination subtests
12 weeks
Differential Ability Scale, 2nd edition (DAS-II)
12 weeks

Study Arms (2)

Arbaclofen

EXPERIMENTAL

Arbaclofen will be dosed flexibly, with maximum permissible dose depending on age.

Drug: Arbaclofen

Placebo

PLACEBO COMPARATOR

The placebo tablet is manufactured to match arbaclofen in shape, size, color, and taste, and will be administered in the same manner as arbaclofen.

Drug: Placebo oral tablet

Interventions

ArbaclofenDrug

Arbaclofen tablet

Also known as: R-baclofen, STX209

Arbaclofen

Placebo oral tabletDrug

Manufactured to match Arbaclofen in size, shape, color and taste

Also known as: Sugar pill

Eligibility Criteria

Age5 Years - 17 Years

Sexall

Healthy VolunteersNo

Age GroupsChild (0-17)

You may qualify if:

Diagnosis of 16p11.2 BP4-BP5 deletion.
Male or female subjects, 5 through 17 years of age, at Screening.

Sponsors & Collaborators

Clinical Research Associates, LLC
Otherlead

Study Sites (4)

Boston Children's Hospital

Boston, Massachusetts, 15031, United States

New York State Psychiatric Institute (NYSPI)

New York, New York, 10032, United States

Texas Children's Hospital

Houston, Texas, 77054, United States

University of Washington

Seattle, Washington, 98915, United States

Related Publications (1)

Rea HM, Mattson JT, Arutiunian V, Verdes A, Bhattachan S, Santhosh M, Garcia A, Ajwani A, Bowen M, Faja S, Hanson E, Pawlowski K, Kochel RP, Prock L, Veenstra-VanderWeele J, Walton-Bowen K, Vogel A, Morgan A, Webb SJ, Wang PP. Rationale and study design for the first precision medicine randomized placebo-controlled trial in the 16p11.2 deletion syndrome. Expert Rev Neurother. 2026 Jun;26(6):597-607. doi: 10.1080/14737175.2026.2655767. Epub 2026 May 4.
PMID: 42080302DERIVED

MeSH Terms

Conditions

16p11.2 Deletion Syndrome

Interventions

arbaclofen placarbilSugars

Intervention Hierarchy (Ancestors)

Carbohydrates

Study Officials

Paul Wang, MD
Clinical Research Associates, LLC
STUDY DIRECTOR

Study Design

Study Type: interventional
Phase: phase 2
Allocation: RANDOMIZED
Masking: QUADRUPLE
Who Masked: PARTICIPANT, CARE PROVIDER, INVESTIGATOR, OUTCOMES ASSESSOR
Masking Details: Placebo-controlled
Purpose: TREATMENT
Intervention Model: PARALLEL
Sponsor Type: OTHER
Responsible Party: SPONSOR

Study Record Dates

First Submitted

February 13, 2020

First Posted

February 17, 2020

Study Start

September 1, 2022

Actual (reported)

Primary Completion

December 22, 2024

Estimated (date passed)

You may not qualify if:

Subjects with additional known genetic disorder besides 16p11.2 BP4-BP5 deletion.
Subjects receiving remote or hybrid schooling at Screening.
Subjects with an additional neurologic or psychiatric condition that might confound performance on assessments measures, e.g., significant impairment in hearing or vision, severe motor impairment (e.g., non-ambulatory) from cerebral palsy, birth injury, or other injury, or cleft lip or palate (including submucous cleft).
Subjects with any seizures within the previous 6 months; subjects who are not currently receiving antiepileptics AND have had one or more seizures during the 3 years prior to Screening; and subjects who are shown to have non-therapeutic AED levels at Screening.
Subjects with any medical or psychiatric condition that might interfere with the conduct of the study, confound interpretation of the study results, or endanger their own well-being. This includes, but is not limited to substance use disorders, impairment of renal function, evidence or history of malignancy or any significant hematological, endocrine, cardiovascular, respiratory, hepatic, or gastrointestinal disease.
Subjects who plan to initiate or change pharmacologic or non-pharmacologic interventions during the course of the study.
Subjects who are currently treated or have been treated with racemic baclofen in the last 30 days.
Subjects currently treated with antipsychotic medication(s).
Subjects currently treated with more than 2 psychoactive medications, including antiepileptics used as an anti-seizure treatment, but not including sleep aids used on an as-needed basis.
Subjects currently treated with drugs having anxiolytic properties, including but not limited to: buspirone and beta-blockers. Benzodiazepines administered on a regular schedule (more than 3x/week) are not permitted. Use of antidepressants may be permitted with approval of the Medical Monitor. Other prohibited and restricted medications are shown in Appendix A.
Subjects currently treated with vigabatrin, tiagabine, or riluzole.
Subjects taking another investigational drug currently or within the last 30 days.
Subjects who are not able or willing to take oral disintegrating tablets.
Subjects who have a history of hypersensitivity to racemic baclofen.
Subjects who, in the Investigator's opinion, might not be suitable for the study.

Safety, Tolerability, and Efficacy of Arbaclofen in 16p11.2 Deletion

Brief Summary

Registry Overview

Trial Relationships

Study Timeline

First Submitted

First Posted

Study Start

Primary Completion

Study Completion

Conditions

Outcome Measures

Primary Outcomes (1)

Secondary Outcomes (3)

Study Arms (2)

Arbaclofen

Placebo

Interventions

Eligibility Criteria

You may qualify if:

Sponsors & Collaborators

Study Sites (4)

Related Publications (1)

MeSH Terms

Conditions

Interventions

Intervention Hierarchy (Ancestors)

Study Officials

Study Design

Study Record Dates

You may not qualify if:

Source record

Locations

Brief Summary

Registry Overview

Trial Relationships

Related Scientific Literature

Study Timeline

First Submitted

First Posted

Study Start

Primary Completion

Study Completion

Conditions

Outcome Measures

Primary Outcomes (1)

Secondary Outcomes (3)

Study Arms (2)

Arbaclofen

Placebo

Interventions

Eligibility Criteria

You may qualify if:

Sponsors & Collaborators

Study Sites (4)

Related Publications (1)

MeSH Terms

Conditions

Interventions

Intervention Hierarchy (Ancestors)

Study Officials

Study Design

Study Record Dates

You may not qualify if:

Source record

Locations