Spinal Muscle Atrophy
Conditions
Brief summary
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.
Interventions
None listed
Sponsors
Hoffmann-La Roche
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
No minimum to 5 Years
Healthy volunteers
No
Inclusion criteria
* Maximum age to be 6 months for type I participants and 5 years for type II participants at the time of diagnosis. * Participants must start/have started treatment with Risdiplam within 6 months of diagnosis. * Participant to be receiving adequate nutrition and hydration at index date, in the opinion of the Investigator. * Participant to be adequately recovered from any acute illness at the time index date.
Exclusion criteria
* Participants not receiving treatment for disease with Risdiplam according to standard of care and in line with the current summary of product characteristics (SPC)/local labeling. * Participants not receiving the Roche studied medicinal product, but a biosimilar. * Concomitant or previous administration in any investigational drug or device study. * Concomitant or previous administration of approved treatment for SMA other than Risdiplam. * Unstable gastrointestinal, renal, hepatic, endocrine or cardiovascular system diseases at index date. * Participants requiring invasive ventilation or tracheostomy at index date. * Participants requiring awake non-invasive ventilation due to respiratory insufficiency or with awake hypoxemia with or without ventilator support or with history of respiratory failure or severe pneumonia, and have not fully recovered their pulmonary function at the time of index date. * Severe contractures of joints of lower limbs and upper limbs at the time of index date.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Change From Index Date in Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) Score at Month 12 | Baseline, 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. |
| Change From Index Date in Hammersmith Functional Motor Scale Expanded (HFMSE) Score at Months 12 | Baseline, 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. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Change From Index Date in CHOP-INTEND Score at Month 24 | Baseline, 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. |
| Percentage of Participants with CHOP-INTEND Score Improvement ≥ 4 Points Compared to Index Date at Months 12 and 24 | Baseline, 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. |
| Percentage of Participants with CHOP-INTEND Score ≥ 40 at Months 12 and 24 | 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. |
| Change From Baseline in HFMSE Score at Month 24 | Baseline, 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. |
| Number of Participants who Require Ventilatory Assistance | Up to 2 years follow-up per participant | 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. |
| Duration of Ventilation | Up to 2 years follow-up per participant | 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. |
| Time Until Permanent Ventilation | Up to 2 years follow-up per participant | 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. |
| Overall Survival at Month 24 | At Month 24 | — |
| Ventilation-free Survival | Up to 2 years follow-up per participant | Assessed by duration of time from a specified index date until the initiation of permanent ventilation. |
| Change From Baseline in Growth Pattern | Up to Month 24 | Growth patterns will be compared to standardized growth charts. |
| Number of Participants With Musculoskeletal Abnormalities | Up to Month 24 | Musculoskeletal abnormalities include scoliosis, kyphosis or other deformities |
| 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 | Up to Month 24 | 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. |
| Number of Participants With Adverse Events (AE) Serious Adverse Events (SAE) | Up to 2 years follow-up per participant | 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. |
Countries
Egypt
Contacts
CONTACTReference Study ID Number: ML45655 https://forpatients.roche.com/ No attachments to email below.
CONTACTFastest response: use the inquiry form. https://www.gene.com/contact-us/submit-medical-inquiry
STUDY_DIRECTORClinical Trials
Hoffmann-La Roche
Outcome results
None listed