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Spinal Muscle AtrophyNCT07531719

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

An observational study of Spinal Muscle Atrophy, run by Hoffmann-La Roche at 2 sites in Egypt.

Recruiting

Looking for participants now. Contact the study team or a site below to ask about taking part.

Sites and contacts
Official record
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Trial 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. Read more about this study

Who is it for?
Ages Up to 5 years
Conditions the study is for
Spinal Muscle Atrophy
How many people
30 participants
Where
2 sitesEgypt
Study dates
22 Jul 2026to 1 Mar 2029
Phase
Observational
Are there results?
Not yet: the study is under way

Key requirements

Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.

  • Ages Up to 5 years
  • All sexes
  • No healthy volunteers
  • Child

Study population: 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.

Who may be able to join

  • 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.

Who cannot join

  • 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.

Trial locations and contacts

2 sites in 1 country. Contact the study team or a site near you to ask about taking part.

Reference Study ID Number: ML45655 https://forpatients.roche.com/ No attachments to email below. contact

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

global-roche-genentech-trials@gene.com

Fastest response: use the inquiry form. https://www.gene.com/contact-us/submit-medical-inquiry contact

Egypt2 sites, 2 recruiting

  • Neurology Department, Ain Shams University Hospitals

    Cairo, 11566

    Recruiting

  • Air Force Specialized Hospital

    Cairo, DUMMY_VALUE

    Recruiting

Other trials in Egypt

About this study

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

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.

Medical subject headings
Muscular Atrophy, Spinal

What participants receive

What participants receive. In a randomised study each person is assigned to one group by chance.

Study groups in NCT07531719
Study groupRoleWhat they receive
Risdiplam Observational ArmData 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.

What is being measured

The primary outcome is the main question the study is designed to answer.

  1. 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.

    Measured: Baseline, Month 12

  2. 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.

    Measured: Baseline, Months 12

Secondary outcomes (14)

  1. 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.

    Measured: Baseline, Month 24

  2. 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.

    Measured: Baseline, Months 12 and 24

  3. 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.

    Measured: At Months 12 and 24

  4. 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.

    Measured: Baseline, Month 24

  5. 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.

    Measured: Up to 2 years follow-up per participant

  6. 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.

    Measured: Up to 2 years follow-up per participant

  7. 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.

    Measured: Up to 2 years follow-up per participant

  8. Overall Survival at Month 24

    Measured: At Month 24

  9. Ventilation-free Survival

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

    Measured: Up to 2 years follow-up per participant

  10. Change From Baseline in Growth Pattern

    Growth patterns will be compared to standardized growth charts.

    Measured: Up to Month 24

  11. Number of Participants With Musculoskeletal Abnormalities

    Musculoskeletal abnormalities include scoliosis, kyphosis or other deformities

    Measured: Up to Month 24

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

    Measured: Up to Month 24

  13. 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.

    Measured: Up to Month 24

  14. 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.

    Measured: Up to 2 years follow-up per participant

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

  1. First posted15 Apr 2026
  2. Study start22 Jul 2026
  3. Primary completion1 Mar 2028 (estimated)
  4. Study completion1 Mar 2029 (estimated)

Resources

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.

Study design
Study type
Observational
Observational model
Cohort
Time perspective
Prospective
Enrolment
30 participants (estimated)
IDs, dates and publications
ClinicalTrials.gov ID
NCT07531719
Sponsor's protocol ID
ML45655
Status last verified
Oct 2026
First submitted
8 Apr 2026
Last updated
2 Oct 2026
Results posted
No
Data monitoring committee
No
FDA-regulated drug
No
FDA-regulated device
No
Individual data sharing
No

Questions about this trial

What is this clinical trial studying?

An observational study of Spinal Muscle Atrophy, run by Hoffmann-La Roche at 2 sites in Egypt.

The full registered description is in the About this study section and the official record.

Who may be eligible to take part?

The sponsor lists 4 inclusion and 8 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.

Is this clinical trial currently recruiting?

The record says: looking for participants now, as of the sponsor's last update on 2 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 2 sites in Egypt. Whether a site is taking part right now should be confirmed with that site. See every site.

What are the possible benefits and risks?

They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.

Are results available for this study?

This study is still under way. Results are not available in the source record yet.

How can a doctor refer a patient or contact the research team?

Contact Reference Study ID Number: ML45655 https://forpatients.roche.com/ No attachments to email below. (888-662-6728 (U.S. Only), global-roche-genentech-trials@gene.com), or a site near the patient. AzTrials does not enrol participants or take referrals.

What does the primary outcome measure?

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). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT07531719.

Does a listing mean the treatment is approved or proven to work?

No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.

How often is this information updated?

AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 2 Oct 2026.

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