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| ID | Type | Description | Link |
|---|---|---|---|
| 2023-505161-81-00 | EU Trial (CTIS) Number |
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This is an open-label, single-arm, multicenter clinical study to evaluate the effectiveness and safety of risdiplam administered in pediatric participants with SMA and 2 SMN2 copies who previously received onasemnogene abeparvovec and experience a plateau or decline in function. Participants to be enrolled are children <2 years of age genetically diagnosed with SMA.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Risdiplam | Experimental | Participants will receive risdiplam orally once daily for 72 weeks (Treatment Period). The Treatment Period will be followed by a 1-year Treatment Extension Period for a total study duration of 120 weeks (approximately 2.5 years) for each participant enrolled. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Risdiplam | Drug | Participants will receive risdiplam orally at the currently approved dose. The dose should be adapted for weight and age. |
|
| Measure | Description | Time Frame |
|---|---|---|
| Change from Baseline in the Raw Score of Bayley Scales of Infant and Toddler Development - Third Edition (BSID-III) Gross Motor Score at 72 Weeks of Risdiplam Treatment | The BSID-III is a standardized assessment commonly used to evaluate developmental functioning of infants and young children between 1 month and 42 months of age. The gross motor scale measures the movement of the limbs and torso. Items assess static positioning (e.g., sitting, standing); dynamic movement, including locomotion and coordination; balance; and motor planning. The gross motor scale consists of 72 items scored at 0 (unable to perform) or 1 (criteria for item achieved). A higher raw score indicates improvement. | Baseline, Week 72 |
| Measure | Description | Time Frame |
|---|---|---|
| Percentage of Participants With Adverse Events | Up to 120 weeks | |
| Percentage of Participants With Serious Adverse Events | Up to 120 weeks | |
| Percentage of Participants With Treatment Discontinuation Due to Adverse Events |
| Measure | Description | Time Frame |
|---|---|---|
| Change from Baseline in Bulbar/Swallowing Function Assessment as Measured by the Oral and Swallowing Abilities Tool (OrSAT) at 72 Weeks of Risdiplam Treatment and Over Time | The OrSAT is a validated assessment composed of a checklist of 12 questions assessing aspects of swallowing abilities thought to be clinically meaningful for a type 1 SMA population and developmentally appropriate for infants during the first months of life. Each item is graded with a score of 0 or 1, depending on the child's ability to perform the activity. As some items are age-dependent, the number of items to be used, and therefore the maximum score, changes with increasing age. In the infants younger than 6 months the maximum score is 7. For those between 6 and 9 months, maximum score is 10. For infants of 10 months or older, maximum total score is 12. |
Inclusion Criteria:
Exclusion Criteria:
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| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Reference Study ID Number: BN44621 https://forpatients.roche.com/ | Contact | 888-662-6728 (U.S. Only) | global-roche-genentech-trials@gene.com | |
| Fastest response: use the inquiry form. No email attachments. https://www.gene.com/contact-us/submit-medical-inquiry | Contact |
| Name | Affiliation | Role |
|---|---|---|
| Clinical Trials | Hoffmann-La Roche | Study Director |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University of Arkansas for Medical Sciences | Recruiting | Little Rock | Arkansas | 72103 | United States | |
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| Label | URL |
|---|---|
| Please use this form to submit your questions for a faster response: https://www.gene.com/contact-us/submit-medical-inquiry. Do not include or attach any medical records when emailing or completing the form. A nurse will respond within 24 business hours. | View source |
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This clinical trial evaluates treatment of a rare genetic disease in a small cohort of participants. No data is planned to be shared in order to protect and maintain participant privacy/confidentiality.
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| Up to 120 weeks |
| From baseline up to Week 120 |
| Change in Swallowing Function Assessment as Measured by the Pediatric Functional Oral Intake Scale (p-FOIS) Over Time | The p-FOIS is a 6-point scale that assesses feeding ability, 1= Nothing by mouth, 2= Tube dependent for all nutrition/hydration needs with minimal attempts at oral intake for experience and/or pleasure, 3= Tube dependent with consistent intake of food and/or fluid that meets some of the nutrition/hydration needs, 4= Total oral intake but special preparation required, e.g., thickened fluids, puréed diet (where not age-appropriate), 5= Total oral intake but requiring special conditions/modification, e.g., slow flow teat/side lying/pacing or specific food limitations, 6= Total, age-appropriate, oral intake with no restrictions. Higher score indicates higher level of function. | From baseline up to Week 120 |
| Change from Baseline in the Raw Score of BSID-III Gross Motor Score Over Time Under Risdiplam Treatment | The BSID-III is a standardized assessment commonly used to evaluate developmental functioning of infants and young children between 1 month and 42 months of age. The gross motor scale measures the movement of the limbs and torso. Items assess static positioning (e.g., sitting, standing); dynamic movement, including locomotion and coordination; balance; and motor planning. The gross motor scale consists of 72 items scored at 0 (unable to perform) or 1 (criteria for item achieved). A higher raw score indicates improvement. | From baseline up to Week 120 |
| Percentage of Participants With a Gross Motor Index Between 80-109 as Measured by the Peabody Developmental Motor Scale, Third Edition (PDMS-3) at 72 Weeks of Risdiplam Treatment and Over Time | The PDMS-3 is used to assess gross- and fine-motor skills in children from birth to 5 years. The PDMS-3 has 3 composite scores: Total Motor (combined scores of the core subtests) and two domain composites (Gross Motor and Fine Motor). By combining the results of subtests, these composite scores are considered to have stronger and better indexes of performance and, therefore, more reliable and valid than the subtests. Score for composite indexes range from <70 (impaired or delayed) to >129 (gifted or very advanced). Score of 80-89 indicate below average and 90-109 indicate average skills. | From baseline up to Week 120 |
| Percentage of Participants With a Fine Motor Index Between 80-109 as Measured by the PDMS-3 at 72 Weeks of Risdiplam Treatment and Over Time | The PDMS-3 is used to assess gross- and fine-motor skills in children from birth to 5 years. The PDMS-3 has 3 composite scores: Total Motor (combined scores of the core subtests) and two domain composites (Gross Motor and Fine Motor). By combining the results of subtests, these composite scores are considered to have stronger and better indexes of performance and, therefore, more reliable and valid than the subtests. Score for composite indexes range from <70 (impaired or delayed) to >129 (gifted or very advanced). Score of 80-89 indicate below average and 90-109 indicate average skills. | From baseline up to Week 120 |
| Change in World Health Organization (WHO) Motor Milestone Achievement at 72 Weeks of Risdiplam Treatment and Over Time | The WHO motor milestones evaluate gross motor development and comprise the time windows of achievement for six gross motor milestones based on data derived from the WHO Multicenter Growth Reference Study (MGRS). The six gross motor milestones are as follows: sitting without support, hands-and-knees crawling, standing with assistance, walking with assistance, standing alone, and walking alone. A yes response indicates that the participant reached a particular development milestone. | From baseline up to Week 120 |
| Percentage of Participants With Improvement or No Change in Respiratory Illness as Assessed by Clinical Global Impression of Change (CGI-C) | In a case of respiratory illness during the study, a range of clinical domain level items will be completed by the investigator, as needed. The CGI-C is a single item measure of change using seven response options: "Very much improved," "Much improved," "Minimally improved," "No change," "Minimally worse," "Much worse," and "Very much worse." | As per respiratory event on Day 10 and Day 20 postevent (up to Week 120) |
| Percentage of Participants Within 3rd Percentile of Normal Range for Weight-to-Age at 72 Weeks of Risdiplam Treatment and Over Time | From baseline up to Week 120 |
| Percentage of Participants Within 3rd Percentile of Normal Range for Length/Height-to-Age at 72 Weeks of Risdiplam Treatment and Over Time | From baseline up to Week 120 |
| Percentage of Participants Within 3rd Percentile of Normal Range for Weight-to-Length/Height at 72 Weeks of Risdiplam Treatment and Over Time | From baseline up to Week 120 |
| Number of Respiratory-Related Hospitalizations During the 72-Week Risdiplam Treatment and Over Time | Up to 120 weeks |
| Valley Children's Hospital |
| Recruiting |
| Madera |
| California |
| 93636 |
| United States |
| Stanford Univ Medical Center | Recruiting | Palo Alto | California | 94304 | United States |
| Children's Hospital of Colorado | Recruiting | Aurora | Colorado | 80045 | United States |
| University of Florida Pediatrics | Recruiting | Gainesville | Florida | 32610 | United States |
| Children's Healthcare of Atlanta Center for Advanced Pediatrics | Recruiting | Atlanta | Georgia | 30329-2309 | United States |
| Helen DeVos Children's Hospital at Spectrum Health | Recruiting | Grand Rapids | Michigan | 49503 | United States |
| Children'S Hospital of Philadelphia | Recruiting | Philadelphia | Pennsylvania | 19104 | United States |
| University of Texas Southwestern Medical Center | Recruiting | Dallas | Texas | 75390 | United States |
| Children's Hospital of the King's Daughter | Withdrawn | Norfolk | Virginia | 23510 | United States |
| Charité - Universitätsmedizin Berlin SPZ Abteilung Neuropaediatrie | Recruiting | Berlin | 13353 | Germany |
| UKGM Standort Gießen | Recruiting | Giessen | 35392 | Germany |
| Soroka Medical Center | Recruiting | Beersheba | 8410101 | Israel |
| Schneider Children's Medical Center of Israel | Recruiting | Petah Tikva | 4920235 | Israel |
| Sourasky MC, Dana-Dwek Children's Hospital | Recruiting | Tel Aviv | 6423906 | Israel |
| Uniwersyteckie Centrum Kliniczne | Recruiting | Gda?sk | 80-952 | Poland |
| Instytut Pomnik Centrum Zdrowia Dziecka | Recruiting | Warsaw | 04-730 | Poland |
| Sidra Medicine | Recruiting | Al Rayyan | Qatar |
| Great Ormond Street Hospital For Children | Recruiting | London | WC1N 3JH | United Kingdom |
| ID | Term |
|---|---|
| D009134 | Muscular Atrophy, Spinal |
| ID | Term |
|---|---|
| D013118 | Spinal Cord Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D016472 | Motor Neuron Disease |
| D019636 | Neurodegenerative Diseases |
| D009468 | Neuromuscular Diseases |
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| ID | Term |
|---|---|
| C000629884 | Risdiplam |
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