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NCT Number: NCT07531719

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

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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Key information

Conditions

Spinal Muscle Atrophy Central Nervous System Diseases Motor Neuron Disease Muscular Atrophy, Spinal Nervous System Diseases Neurodegenerative Diseases Neuromuscular Diseases Spinal Cord Diseases

Age range

Up to 5 year

Sex eligibility

All sexes

Study type

Observational

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Primary outcomes

  1. Change From Index Date in Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) Score at Month 12

    Time frame: 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.

  2. Change From Index Date in Hammersmith Functional Motor Scale Expanded (HFMSE) Score at Months 12

    Time frame: 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 outcomes

  1. Change From Index Date in CHOP-INTEND Score at Month 24

    Time frame: 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.

  2. 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

    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.

  3. Percentage of Participants with CHOP-INTEND Score ≥ 40 at Months 12 and 24

    Time frame: 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.

  4. Change From Baseline in HFMSE Score at Month 24

    Time frame: 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.

  5. Number of Participants who Require Ventilatory Assistance

    Time frame: 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.

  6. Duration of Ventilation

    Time frame: 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.

  7. Time Until Permanent Ventilation

    Time frame: 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.

  8. Overall Survival at Month 24

    Time frame: At Month 24

  9. Ventilation-free Survival

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

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

  10. Change From Baseline in Growth Pattern

    Time frame: Up to Month 24

    Growth patterns will be compared to standardized growth charts.

  11. Number of Participants With Musculoskeletal Abnormalities

    Time frame: Up to Month 24

    Musculoskeletal abnormalities include scoliosis, kyphosis or other deformities

  12. Time to Loss of Swallowing Function Assessed by the Study Physician

    Time frame: Up to Month 24

  13. Bulbar Function as Assessed by the Study Physician Versus Baseline

    Time frame: 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.

  14. Number of Participants With Adverse Events (AE) Serious Adverse Events (SAE)

    Time frame: 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.

Study contacts

Contact information is provided by the study sponsor or research team.

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

CONTACT

[email protected]

888-662-6728 (U.S. Only)

Sponsors and collaborators

Lead sponsor

Hoffmann-La Roche

Industry

Registry information

Official study title

A Non-Interventional, Multi-Center Study Investigating the Outcomes of Risdiplam in Type I and Type II Spinal Muscle Atrophy Patients

Important dates

Study start
2026
Primary completion
2028
Study completion
2029
First posted
Apr 15, 2026
Registry last updated
Jul 10, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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