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Recruiting NCT07531719

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

— Observational Spinal Muscle Atrophy

For patients and families

In plain language

An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.

What is being studied
This is an observational study: the protocol does not assign a study treatment.
Who it may be relevant to
Registry conditions: Spinal Muscle Atrophy. Basic parameters: up to 5 years · All.
What needs checking
Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
Where it takes place
Egypt
Next step
Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →

Unsure about the terms? Read our patient guide →

Official title

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

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.

Primary outcome measures

  • 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]
  • Change From Index Date in Hammersmith Functional Motor Scale Expanded (HFMSE) Score at Months 12 [Time frame: Baseline, Months 12]
Secondary outcome measures (12)
  • Change From Index Date in CHOP-INTEND Score at Month 24 [Time frame: Baseline, Month 24]
  • 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 [Time frame: At Months 12 and 24]
  • Change From Baseline in HFMSE Score at Month 24 [Time frame: Baseline, Month 24]
  • Number of Participants who Require Ventilatory Assistance [Time frame: Up to 2 years follow-up per participant]
  • Duration of Ventilation [Time frame: Up to 2 years follow-up per participant]
  • Time Until Permanent Ventilation [Time frame: Up to 2 years follow-up per participant]
  • Overall Survival at Month 24 [Time frame: At Month 24]
  • Ventilation-free Survival [Time frame: Up to 2 years follow-up per participant]
  • Change From Baseline in Growth Pattern [Time frame: Up to Month 24]
  • Number of Participants With Musculoskeletal Abnormalities [Time frame: Up to Month 24]
  • Time to Loss of Swallowing Function Assessed by the Study Physician [Time frame: Up to Month 24]

Eligibility criteria

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.

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: No

Study design

Observational model
Cohort

Study locations

Egypt · 2 centers
  • Neurology Department, Ain Shams University Hospitals — Cairo
  • Air Force Specialized Hospital — Cairo

Identifiers

NCT: NCT07531719 · ML45655

Primary sources (government registries)

View this study on ClinicalTrials.gov ↗