Dup15q SyndromePhase 2NCT05307679
A Study to Evaluate the Safety and Efficacy of Basmisanil Treatment in Children Aged 2-14 Years With Dup15q Syndrome
A Phase 2 study testing Basmisanil in people with Dup15q Syndrome, run by Hoffmann-La Roche at 5 sites in 3 countries.
Trial summary
This study consists of two parts. Part 1 will evaluate the safety, efficacy, and pharmacodynamics of 52-weeks of basmisanil treatment in children and adolescents (aged 2-14 years) with Dup15q syndrome. Read more about this study
- Who is it for?
- Ages 2 to 14 years
- Conditions the study is for
- Dup15q Syndrome
- What is being tested?
- Basmisanil
- Type of treatment
- Pill or oral medicine
- Could I receive a placebo?
- Yes, some participants may receive a placebo
- How many people
- 7 participants
- Where
- 5 sitesin 3 countries
- Study dates
- 16 Dec 2022to 4 Mar 2024
- Phase
- Phase 2
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 2 to 14 years
- All sexes
- No healthy volunteers
- Child
Who may be able to join
- Documented maternal duplication (3 copies) or triplication (4 copies) of the chromosome 15q11.2-q13.1 region that includes the Prader Willi/Angelman critical region defined as [BP2-BP3] segment
- Dup15q syndrome Clinician Global Impression of Severity scale (Dup15q CGI-S) overall severity score ≥ 4 (at least moderately ill)
- Body weight equal to or above the third percentile for age
- Participant has a parent, caregiver, or legally authorized representative (hereinafter "caregiver") of at least 18 years of age, who is fluent in the local language at the site, and capable and willing to provide written informed consent for the participant, according to International Council for Harmonisation and local regulations
- Participant's caregiver must be living with the participant and, in the opinion of the Investigator, able and willing to reliably assess the participant's ongoing condition, to accompany the participant to all clinic visits, and ensure compliance to study treatment throughout the study. The same caregiver is able and willing to complete the caregiver assessments and is available to the Investigational Site by telephone or email if needed
- Participant's caregiver is able and willing to use electronic devices to record information on the participant's condition and to complete assessments at home and agrees to home nursing visits, if local regulations allow for it and if home nursing service is available in the country/region
Who cannot join
- Uncontrolled epilepsy at screening (as defined by the protocol)
- Lymphoma, leukemia, or any malignancy within the past 5 years, except for basal cell or squamous epithelial carcinomas of the skin that have been resected with no evidence of metastatic disease for 3 years
- Clinically significant ECG abnormalities at Screening
- Clinically significant abnormalities in laboratory test results at screening (including positive results for HIV, hepatitis B and/or hepatitis C)
- Allowed prior existing medication should be on a stable regimen (or frequency of intervention) for at least 6 weeks, and at least 8 weeks for anti-epileptic treatment, prior to Screening
- Non-pharmacological / behavioral therapies should not be stopped or newly started at least 6 weeks prior to Screening and are expected to remain stable for the entire study duration (excluding changes related to standard age and educational interventional programs and minor interruptions such as illness or vacation
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- Concomitant use of prohibited medications
- Participation in an investigational drug study within one month or within 6 × the elimination half-life, whichever is longer, prior to dosing in the study
- Significant risk for suicidal behavior, as assessed through the suicidal behavior question adapted from the Columbia Classification Algorithm for Suicide Assessment (C-CASA) (participants ≥ 6 years of age only)
- Known sensitivity to any of the study treatments or components thereof or drug or other allergy that, in the opinion of the Investigator, contraindicates the participation in the study, including severe lactose intolerance (e.g., unable to tolerate 250 mL [8 oz. or 1 cup] of milk, ice cream, or yogurt)
- Concomitant clinically relevant disease or condition or any clinically significant finding at screening that could interfere with, or for which, the treatment might interfere with, the conduct of the study or that would pose an unacceptable risk to the participants in this study
- Known active or uncontrolled bacterial, viral, or other infection (excluding fungal infections of nail beds) or any major clinically significant episode of infection or hospitalization (relating to the completion of the course of antibiotics) within 6 weeks prior to the start of drug administration
Trial locations and contacts
5 sites in 3 countries.
5 sites in 3 countries
United States2 sites
Rush University Medical Center
Chicago, Illinois, 60612-3244
Children's Hospital Los Angeles
Los Angeles, California, 90010
Spain2 sites
Hospital Sant Joan De Deu
Esplugues de Llobregas, Barcelona, 08950
Hospital Universitario La Paz
Madrid, 28046
United Kingdom1 site
Evelina London Children's Hospital
London, SE1 7EH
About this study
Official title: A Phase II, Randomized, Double-Blind, Placebo-Controlled, Parallel Group Study to Evaluate the Safety, Efficacy, and Pharmacodynamics of 52 Weeks of Treatment With Basmisanil in Participants Aged 2 to 14 Years Old With Dup15q Syndrome Followed by a 2-Year Optional Open-Label Extension
This study consists of two parts. Part 1 will evaluate the safety, efficacy, and pharmacodynamics of 52-weeks of basmisanil treatment in children and adolescents (aged 2-14 years) with Dup15q syndrome. Part 1 will test the hypothesis that negative allosteric modulation of a GABAA receptor subtype can address excessive receptor function and positively impact core neurodevelopmental disease feature in individuals with Dup15q syndrome. Part 2 is an optional 2-year open-label extension to evaluate long-term safety, tolerability, and to provide supportive evidence of benefit of continued treatment with basmisanil in selected efficacy outcomes.
- Conditions
- Dup15q Syndrome
- Being tested
- Basmisanil, Placebo
- Keywords
- dup15q, dup15q syndrome, 15q, duplication 15q, 15q duplication, chromosome 15q duplication, 15q duplication syndrome, duplication 15, triplication 15
- Medical subject headings
- Polyposis Syndrome, Hereditary Mixed, 1, Chromosome 15q, trisomy
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
BasmisanilDrug
Participants will receive oral basmisanil at age-appropriate dosages
PlaceboDrug
Participants will receive oral placebo
| Study group | Role | What they receive |
|---|---|---|
| Basmisanil | Experimental | Participants will receive oral basmisanil twice daily (BID) on the first day of treatment, then three times per day (TID) until the end of Part 1 of the trial (Day 365) or the end of Part 2 (Day 1095) Receives: Drug: Basmisanil |
| Placebo | Placebo comparator | Participants will receive oral placebo BID on the first day of treatment, then TID until the end of Part 1 of the trial (Day 365). Receives: Drug: Placebo |
What is being measured
The primary outcome is the main question the study is designed to answer.
Vineland-3 Adaptive Behavior Scales, 3rd Edition Composite Scores
The Vineland-3 is an instrument that measures communication, daily living skills, socialization, and motor skills for those with intellectual and developmental disabilities. Items consist of open-ended questions related to activities and behavior and are scored as 2 = Usually, 1 = Sometimes, and 0 = Never. Items requiring a binary response are scored as 2 = Yes, 0. Standard scores for the adaptive behavior composite range from 20-160; lower scores indicate lower adaptive functioning.
Measured: Baseline, Day 183, Day 365
Secondary outcomes (17)
Vineland-3 Gross and Fine Motor Subdomains Scores
The Vineland-3 is an instrument that measures communication, daily living skills, socialization, and motor skills for those with intellectual and developmental disabilities. Items consist of open-ended questions related to activities and behavior and are scored as 2 = Usually, 1 = Sometimes, and 0 = Never. Items requiring a binary response are scored as 2 = Yes, 0. V-scale scores for the gross and fine motor domains range from 1-24; lower scores indicate lower adaptive functioning.
Measured: Baseline, Day 183, Day 365
Vineland 3 Expressive and Receptive Communication Subdomains
The Vineland-3 is an instrument that measures communication, daily living skills, socialization, and motor skills for those with intellectual and developmental disabilities. Items consist of open-ended questions related to activities and behavior and are scored as 2 = Usually, 1 = Sometimes, and 0 = Never. Items requiring a binary response are scored as 2 = Yes, 0. V-scale scores for the expressive and receptive communication subdomains range from 1-24; lower scores indicate lower adaptive functioning.
Measured: Baseline, Day 183, Day 365
Vineland-3 Play and Leisure Time and Interpersonal Relationships Subdomains
The Vineland-3 is an instrument that measures communication, daily living skills, socialization, and motor skills for those with intellectual and developmental disabilities. Items consist of open-ended questions related to activities and behavior and are scored as 2 = Usually, 1 = Sometimes, and 0 = Never. Items requiring a binary response are scored as 2 = Yes, 0. V-scale scores for the play and leisure time, and interpersonal relationships subdomains range from 1-24; lower scores indicate lower adaptive functioning.
Measured: Baseline, Day 153, Day 365
Mullen Scales of Early Learning (MSEL) Gross and Fine Motor Domains
The MSEL are designed for a certified rater to provide an assessment of cognitive ability and motor development of typically developing children from birth through age 68 months. It was administered to all participants in this study irrespective of their chronological age. The instrument consists of 124 items across five scales measuring Gross Motor, Visual Reception, Fine Motor, Expressive Language, and Receptive Language. Each item is scored from 0-5 points with total raw score ranges of 0-100 (gross motor) and 0-78 (fine motor). Lower score indicate lower developmental abilities; higher scores indicate greater developmental abilities.
Measured: Baseline, Day 183, Day 365
MSEL Visual Reception Domain Scores
The MSEL are designed for a certified rater to provide an assessment of cognitive ability and motor development of typically developing children from birth through age 68 months. It was administered to all participants in this study irrespective of their chronological age. The instrument consists of 124 items across five scales measuring Gross Motor, Visual Reception, Fine Motor, Expressive Language, and Receptive Language. Each item is scored from 0-5 points with a total raw score range of 0-50. Lower score indicate lower developmental abilities; higher scores indicate greater developmental abilities.
Measured: Baseline, Day 183
MSEL Expressive and Receptive Language Subdomains
The MSEL are designed for a certified rater to provide an assessment of cognitive ability and motor development of typically developing children from birth through age 68 months. It was administered to all participants in this study irrespective of their chronological age. The instrument consists of 124 items across five scales measuring Gross Motor, Visual Reception, Fine Motor, Expressive Language, and Receptive Language. Each item is scored from 0-5 points with a total raw score range of 0-50 (expressive language) or 0-48 (receptive language). Lower score indicate lower developmental abilities; higher scores indicate greater developmental abilities.
Measured: Baseline, Day 183
Dup15q Syndrome Clinician Global Impression of Severity (CGI-S) Scale Scores
The Dup15q CGI-S is a 10-domain clinician-rated measure on a 6-point scale that measures global severity of illness at a given point in time. The ten domains are seizures, expressive communication difficulties, fine motor skills difficulties, gross motor skills difficulties, cognitive/intellectual impairment, impairment in activities of daily living/self-care, socialization, maladaptive behavior, sleep difficulties, and overall severity. Response options are 1-none, 2-very mild, 3-mild, 4-moderate, 5-severe, and 6-very severe.
Measured: Baseline until Day 395, or early termination (prior to Day 395)
Dup15q Syndrome Clinician Global Impression of Change Scale (CGI-C) Scores
The Dup15q CGI-C is a 10-domain clinician-rated measure on a 7-point scale that assesses the clinician's impression of change in illness compared with baseline. The ten domains are seizures, expressive communication difficulties, fine motor skills difficulties, gross motor skills difficulties, cognitive/intellectual impairment, impairment in activities of daily living/self-care, socialization, maladaptive behavior, sleep difficulties, and overall severity. Response options are 1-very much improved, 2-much improved, 3-minimally improved, 4-no change, 5-minimally worse, 6-much worse, and 7-very much worse. The CGI does not yield a global score.
Measured: Day 28 - Day 395 or early termination (prior to Day 395)
Aberrant Behavior Checklist - Second Edition - Community Version (ABC-2-C) Domain Scores - Irritability
The ABC-2 is an updated, empirically derived, validated 58-item caregiver-completed rating scale that measures the severity of a range of maladaptive behaviors commonly observed in children, adolescents, and adults with intellectual and developmental disabilities. The Community version of the scale (ABC-2-C) will be used. It is designed for use in individuals who are not residing in institutional settings. The checklist assesses symptoms across five domains: irritability, social withdrawal, stereotypic behavior, hyperactive/noncompliance, and inappropriate speech. Items are scored on a 4-point scale from 0 (never) to 3 (severe problem). The irritability domain score range is 0-45, with higher score indicating greater severity.
Measured: Baseline - Day 365, or early termination (prior to Day 365)
ABC-2-C Domain Scores - Social Withdrawal
The ABC-2 is an updated, empirically derived, validated 58-item caregiver-completed rating scale that measures the severity of a range of maladaptive behaviors commonly observed in children, adolescents, and adults with intellectual and developmental disabilities. The Community version of the scale (ABC-2-C) will be used. It is designed for use in individuals who are not residing in institutional settings. The checklist assesses symptoms across five domains: irritability, social withdrawal, stereotypic behavior, hyperactive/noncompliance, and inappropriate speech. Items are scored on a 4-point scale from 0 (never) to 3 (severe problem). The social withdrawal domain score range is 0-48, with higher scores indicating greater severity.
Measured: Baseline - Day 365, or early termination (prior to Day 365)
ABC-2-C Domain Scores - Stereotypic Behavior
The ABC-2 is an updated, empirically derived, validated 58-item caregiver-completed rating scale that measures the severity of a range of maladaptive behaviors commonly observed in children, adolescents, and adults with intellectual and developmental disabilities. The Community version of the scale (ABC-2-C) will be used. It is designed for use in individuals who are not residing in institutional settings. The checklist assesses symptoms across five domains: irritability, social withdrawal, stereotypic behavior, hyperactive/noncompliance, and inappropriate speech. Items are scored on a 4-point scale from 0 (never) to 3 (severe problem). The stereotypic behavior subdomain score range is 0-21, with higher scores indicating greater severity.
Measured: Baseline - Day 365, or early termination (prior to Day 365)
ABC-2-C Domain Scores - Hyperactivity/Non-Compliance
The ABC-2 is an updated, empirically derived, validated 58-item caregiver-completed rating scale that measures the severity of a range of maladaptive behaviors commonly observed in children, adolescents, and adults with intellectual and developmental disabilities. The Community version of the scale (ABC-2-C) will be used. It is designed for use in individuals who are not residing in institutional settings. The checklist assesses symptoms across five domains: irritability, social withdrawal, stereotypic behavior, hyperactive/noncompliance, and inappropriate speech. Items are scored on a 4-point scale from 0 (never) to 3 (severe problem). The hyperactivity/non-compliance subdomain score range is 0-45, with higher scores indicating greater severity.
Measured: Baseline until Day 365, or early termination (prior to Day 365)
ABC-2-C Domain Scores - Inappropriate Speech
The ABC-2 is an updated, empirically derived, validated 58-item caregiver-completed rating scale that measures the severity of a range of maladaptive behaviors commonly observed in children, adolescents, and adults with intellectual and developmental disabilities. The Community version of the scale (ABC-2-C) will be used. It is designed for use in individuals who are not residing in institutional settings. The checklist assesses symptoms across five domains: irritability, social withdrawal, stereotypic behavior, hyperactive/noncompliance, and inappropriate speech. Items are scored on a 4-point scale from 0 (never) to 3 (severe problem). The inappropriate speech subdomain score range is 0-12, with higher scores indicating greater severity.
Measured: Baseline until Day 365, or early termination (prior to Day 365)
Incidence of Adverse Events (AEs) and Serious Adverse Events (SAEs)
An adverse event is any untoward medical occurrence in a participant administered a pharmaceutical product and which does not necessarily have to have a causal relationship with the treatment. An adverse event can therefore be any unfavorable and unintended sign (including an abnormal laboratory finding, for example), symptom, or disease temporally associated with the use of a pharmaceutical product, whether or not considered related to the pharmaceutical product. Preexisting conditions which worsen during a study are also considered as adverse events.
Measured: Up to 52 weeks
Plasma Concentration of Basmisanil
Measured: Day 1 - Day 183
Plasma Concentration of the Basmisanil Metabolite M1
Measured: Day 1 - Day 183
Quantitative EEG (qEEG) Beta-band Power
This is the average of the EEG parameter 10 x Log_10 of the total beta power between 16 and 32 Hz in microVolt^2.
Measured: Baseline, Day 14
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted1 Apr 2022
- Study start16 Dec 2022
- Primary completion4 Mar 2024
- Study completion4 Mar 2024
Why it stopped: The study was terminated due to sponsor decision and not related to safety or tolerability.
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Posted resultsParticipant flow, outcome measures and adverse events reported by the sponsor.
- Other trials for Dup15q SyndromeStudies of the same condition, open and under way.
- More trials run by Hoffmann-La RocheThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 2
- Primary purpose
- Treatment
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Masking
- Double blind
- Who is masked
- Participant, Investigator
- Enrolment
- 7 participants (actual)
Sponsor and investigators
- Lead sponsor
- Hoffmann-La Roche
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Clinical Trials, Study director, Hoffmann-La Roche
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05307679
- Sponsor's protocol ID
- BP42992
- Status last verified
- Jul 2026
- First submitted
- 25 Mar 2022
- Last updated
- 18 Aug 2026
- Results posted
- Yes, on ClinicalTrials.gov
- Data monitoring committee
- No
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
- Individual data sharing
- Yes: Qualified researchers may request access to individual patient level data through the clinical study data request platform (www.vivli.org). Further details on Roche's criteria for eligible studies are available here (https://vivli.org/ourmember/roche/). For further details on Roche's Global Policy on the Sharing of Clinical Information and how to request access to related clinical study documents, see here (https://www.roche.com/research\_and\_development/who\_we\_are\_how\_we\_work/clinical\_trials/our\_commitment\_to\_data\_sharing.htm).