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This multicenter, non-interventional, prospective study with a retrospective component aims to evaluate the real-world clinical outcomes, safety profile, and motor function improvements of Risdiplam treatment in participants with Type I and Type II Spinal Muscle Atrophy over 24 months of treatment.
The study will allow retrospective collection of medical history data and previous participants visits from the medical records.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Risdiplam Observational Arm | Data will be collected before, during and after treatment from participants who receive risdiplam treatment according to standard of care and Summary of Product Characteristics (SmPC). Participant data will be collected only during routine clinical interactions, with no additional study visits mandated. |
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| Measure | Description | Time Frame |
|---|---|---|
| Change From Index Date in Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) Score at Month 12 | CHOP-INTEND assessment is performed for participants aged <2 years or aged >2 years who are not able to sit > 10 seconds as defined by the World Health Organization (WHO). Information regarding the 16 items in the CHOP-INTEND motor assessment are to be collected. It includes both active movements, spontaneous or goal-oriented items and of reflexive movements. It assesses head, neck, and trunk as well as proximal and distal limb strength. The score ranges from 0-64, higher scores representing better motor function outcomes. The index date (D1) is when the participant was administered the first dose of Risdiplam. | Baseline, Month 12 |
| Change From Index Date in Hammersmith Functional Motor Scale Expanded (HFMSE) Score at Months 12 | HFMSE assessment is performed for participants who are ≥ 2 years and are sitters or walkers. Items on the original HFMS were expanded to capture higher functioning in SMA patients using 13 relevant additional items adapted from the gross motor function measure (GMFM) with their scoring adapted to a three-point scale as in the original HFMS. The score ranges between 0 - 66, a higher score indicates a higher level of function. The index date (D1) is when the participant was administered the first dose of Risdiplam. | Baseline, Months 12 |
| Measure | Description | Time Frame |
|---|---|---|
| Change From Index Date in CHOP-INTEND Score at Month 24 | CHOP-INTEND assessment is performed for participants aged <2 years or aged >2 years who are not able to sit > 10 seconds as defined by WHO. Information regarding the 16 items in the CHOP-INTEND motor assessment are to be collected. It includes both active movements, spontaneous or goal-oriented items and of reflexive movements. It assesses head, neck, and trunk as well as proximal and distal limb strength. The score ranges from 0-64, higher scores representing better motor function outcomes. The index date (D1) is when the participant was administered the first dose of Risdiplam. |
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Inclusion Criteria:
Exclusion Criteria:
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The participants must have a confirmed diagnosis of 5q-autosomal recessive SMA type I or type II with at least two survival motor neuron 2 (SMN2) copies for which Risdiplam is prescribed as per the SmPC.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Reference Study ID Number: ML45655 https://forpatients.roche.com/ | Contact | 888-662-6728 (U.S. Only) | global-roche-genentech-trials@gene.com |
| Name | Affiliation | Role |
|---|---|---|
| Clinical Trials | Hoffmann-La Roche | Study Director |
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| 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 |
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| Baseline, Month 24 |
| Percentage of Participants with CHOP-INTEND Score Improvement ≥ 4 Points Compared to Index Date at Months 12 and 24 | CHOP-INTEND assessment is performed for participants aged <2 years or aged >2 years who are not able to sit > 10 seconds as defined by WHO. Information regarding the 16 items in the CHOP-INTEND motor assessment are to be collected. It includes both active movements, spontaneous or goal-oriented items and of reflexive movements. It assesses head, neck, and trunk as well as proximal and distal limb strength. The score ranges from 0-64, higher scores representing better motor function outcomes. The index date (D1) is when the participant was administered the first dose of Risdiplam. | Baseline, Months 12 and 24 |
| Percentage of Participants with CHOP-INTEND Score ≥ 40 at Months 12 and 24 | CHOP-INTEND assessment is performed for participants aged <2 years or aged >2 years who are not able to sit > 10 seconds as defined by WHO. Information regarding the 16 items in the CHOP-INTEND motor assessment are to be collected. It includes both active movements, spontaneous or goal orientated items and of reflexive movements. It assesses head, neck, and trunk as well as proximal and distal limb strength. The score ranges from 0-64, higher scores representing better motor function outcomes. | At Months 12 and 24 |
| Change From Baseline in HFMSE Score at Month 24 | HFMSE assessment is performed for participants who are ≥ 2 years and are sitters or walkers. Items on the original HFMS were expanded to capture higher functioning in SMA patients using 13 relevant additional items adapted from the GMFM with their scoring adapted to a three-point scale as in the original HFMS. The score ranges between 0 - 66, a higher score indicates a higher level of function. Baseline visit correspond with the index date (D1) where the participant was administered the first dose of Risdiplam. | Baseline, Month 24 |
| Number of Participants who Require Ventilatory Assistance | Invasive ventilation and non-invasive ventilation due to respiratory insufficiency. Participants on permanent ventilation and when using it as temporary respiratory support will be assessed. | Up to 2 years follow-up per participant |
| Duration of Ventilation | Number of hours spent per day of non-invasive or invasive ventilation. Duration for both permanent ventilation and when used as temporary respiratory support will be assessed. | Up to 2 years follow-up per participant |
| Time Until Permanent Ventilation | Time until permanent ventilation is defined as ≥ 16 hours of non-invasive ventilation per day or intubation for > 21 consecutive days in the absence of, or following the resolution of, an acute reversible event or tracheostomy. | Up to 2 years follow-up per participant |
| Overall Survival at Month 24 | At Month 24 |
| Ventilation-free Survival | Assessed by duration of time from a specified index date until the initiation of permanent ventilation. | Up to 2 years follow-up per participant |
| Change From Baseline in Growth Pattern | Growth patterns will be compared to standardized growth charts. | Up to Month 24 |
| Number of Participants With Musculoskeletal Abnormalities | Musculoskeletal abnormalities include scoliosis, kyphosis or other deformities | Up to Month 24 |
| Time to Loss of Swallowing Function Assessed by the Study Physician | Up to Month 24 |
| Bulbar Function as Assessed by the Study Physician Versus Baseline | Bulbar function measures the ability to feed orally, chew, and ability to swallow versus baseline data. It also assesses the speaking and crying functions of the participant. | Up to Month 24 |
| Number of Participants With Adverse Events (AE) Serious Adverse Events (SAE) | Data for incidence, seriousness, severity, and relatedness of all AEs reported or documented in medical notes by physicians during the safety observation period will also be reported. | Up to 2 years follow-up per participant |
| D019636 | Neurodegenerative Diseases |
| D009468 | Neuromuscular Diseases |