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A Study to Evaluate the Safety and Efficacy of Basmisanil Treatment in Children With Dup15q Syndrome

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT05307679
Recruitment Status : Recruiting
First Posted : April 1, 2022
Last Update Posted : January 18, 2023
Sponsor:
Information provided by (Responsible Party):
Hoffmann-La Roche

Brief Summary:
This study will evaluate the safety, efficacy, and pharmacodynamics of 52 weeks of basmisanil treatment in children with Dup15q syndrome aged 2 to 11 years. The study will test the hypothesis that modulation of a GABAA receptor subtype can address excessive receptor function and positively impact core neurodevelopmental disease features in children with Dup15q syndrome.

Condition or disease Intervention/treatment Phase
Dup15q Syndrome Drug: Basmisanil Drug: Placebo Phase 2

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Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 90 participants
Allocation: Randomized
Intervention Model: Parallel Assignment
Masking: Double (Participant, Investigator)
Primary Purpose: Treatment
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 Children With Dup15q Syndrome
Actual Study Start Date : December 16, 2022
Estimated Primary Completion Date : January 1, 2026
Estimated Study Completion Date : January 1, 2026

Arm Intervention/treatment
Experimental: Basmisanil
Participants will receive oral basmisanil twice daily (BID) on the first day of treatment, then three times per day (TID) until the end of the trial on Day 365.
Drug: Basmisanil
Participants will receive oral basmisanil at age-appropriate dosages

Placebo Comparator: Placebo
Participants will receive oral placebo BID on the first day of treatment, then TID until the end of the trial on Day 365.
Drug: Placebo
Participants will receive oral placebo




Primary Outcome Measures :
  1. Vineland-3 adaptive behavior composite scores [ Time Frame: Up to 61 weeks ]

Secondary Outcome Measures :
  1. Vineland-3 scores [ Time Frame: Up to 61 weeks ]
  2. Mullen Scales of Early Learning (MSEL) scores [ Time Frame: Up to 61 weeks ]
  3. Dup15q syndrome Clinical Global Impression Change scale (CGI-C) scores [ Time Frame: Up to 61 weeks ]
  4. Dup15q syndrome CGI Severity (CGI-S) scale scores [ Time Frame: Up to 61 weeks ]
  5. Aberrant Behavior Checklist - Second Edition - Community Version (ABC-2-C) domain scores [ Time Frame: Up to 61 weeks ]
  6. Incidence of Adverse Events (AEs) and Serious Adverse Events (SAEs) [ Time Frame: Up to 61 weeks ]
  7. Incidence of abnormal electrocardiogram (ECG) assessments [ Time Frame: Up to 61 weeks ]
  8. Change from baseline in seizure frequency, duration, and type [ Time Frame: Up to 61 weeks ]
  9. Incidence of treatment-emergent epileptiform abnormalities [ Time Frame: Up to 61 weeks ]
  10. Suicidality as assessed through questions from selected items adapted from the Columbia Classification Algorithm for Suicide (C-CASA) [ Time Frame: Up to 61 weeks ]
  11. Plasma concentration of basmisanil [ Time Frame: Up to 61 weeks ]
  12. Plasma concentration of the basmisanil metabolite M1 [ Time Frame: Up to 61 weeks ]
  13. Area under the concentration-time curve during one dosing interval at steady state (AUCtau,ss) of basmisanil [ Time Frame: Up to 61 weeks ]
  14. Maximum concentration at steady state (Cmax,ss) of basmisanil [ Time Frame: Up to 61 weeks ]
  15. Trough plasma concentration at steady state (Ctrough, ss) of basmisanil [ Time Frame: Up to 61 weeks ]
  16. Apparent clearance (CL/F) of basmisanil [ Time Frame: Up to 61 weeks ]
  17. Apparent volume of distribution (Vd/F) of basmisanil [ Time Frame: Up to 61 weeks ]
  18. Plasma concentration ratio of M1 to basmisanil at trough [ Time Frame: Up to 61 weeks ]
  19. Cmax,ss of M1 [ Time Frame: Up to 61 weeks ]
  20. Ctrough, ss of M1 [ Time Frame: Up to 61 weeks ]
  21. Quantitative EEG (qEEG) beta-band power [ Time Frame: Up to 61 weeks ]


Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


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Ages Eligible for Study:   2 Years to 11 Years   (Child)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Criteria

Inclusion Criteria:

  • 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 Clinical Global Impression 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 on 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

Exclusion Criteria:

  • 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
  • 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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT05307679


Contacts
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Contact: Reference Study ID Number: BP42992 https://forpatients.roche.com/ 888-662-6728 global-roche-genentech-trials@gene.com

Locations
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Australia, Queensland
Queensland Children's Hospital Recruiting
South Brisbane, Queensland, Australia, 4101
Italy
IRCCS Oasi Maria SS.; Dipartimento per il ritardo mentale Recruiting
Troina (EN), Sicilia, Italy, 94018
Fondazione Stella Maris; Dipartimento di neuroscienze dello sviluppo Recruiting
Calambrone (pisa), Toscana, Italy, 56128
Spain
Hospital Sant Joan De Deu Recruiting
Esplugues De Llobregas, Barcelona, Spain, 08950
United Kingdom
Evelina London Children's Hospital Recruiting
London, United Kingdom, SE1 7EH
Sponsors and Collaborators
Hoffmann-La Roche
Investigators
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Study Director: Clinical Trials Hoffmann-La Roche
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Responsible Party: Hoffmann-La Roche
ClinicalTrials.gov Identifier: NCT05307679    
Other Study ID Numbers: BP42992
First Posted: April 1, 2022    Key Record Dates
Last Update Posted: January 18, 2023
Last Verified: January 2023
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Yes
Plan Description: 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).

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Syndrome
Disease
Pathologic Processes