A Study of Risdiplam in Participants With Type I and Type II Spinal Muscle Atrophy (SMA)

N/ANot Yet RecruitingNCT07531719

Hoffmann-La Roche30 enrolled

Overview

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.

Study Type

OBSERVATIONAL

Enrollment

Conditions

Spinal Muscle Atrophy

Eligibility

Sex: ALLMax age: 5 Years

Medical Language ↔ Plain English

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.

Outcomes

Primary Outcomes

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.

Time frame: 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.

Time frame: Baseline, Months 12

Secondary Outcomes

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.

Time frame: Baseline, Month 24

Central Contacts

Reference Study ID Number: ML45655 https://forpatients.roche.com/

CONTACT

888-662-6728 (U.S. Only)global-roche-genentech-trials@gene.com

Data from ClinicalTrials.gov

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Percentage of Participants with CHOP-INTEND Score Improvement ≥ 4 Points Compared to Index Date at Months 12 and 24

Time frame: 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.

Time frame: 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.

Time frame: 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.

Time frame: 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.

Time frame: 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.

Time frame: Up to 2 years follow-up per participant

Overall Survival at Month 24

Time frame: At Month 24

Ventilation-free Survival

Assessed by duration of time from a specified index date until the initiation of permanent ventilation.

Time frame: Up to 2 years follow-up per participant

Change From Baseline in Growth Pattern

Growth patterns will be compared to standardized growth charts.

Time frame: Up to Month 24

Number of Participants With Musculoskeletal Abnormalities

Musculoskeletal abnormalities include scoliosis, kyphosis or other deformities

Time frame: Up to Month 24

Time to Loss of Swallowing Function Assessed by the Study Physician

Time frame: 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.

Time frame: 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.

Time frame: Up to 2 years follow-up per participant