Long-term Follow-up Study of Risdiplam in Participants With Spinal Muscular Atrophy (SMA) (WeSMA)

Long-term Follow-up Study of Patients With Spinal Muscular Atrophy Receiving Risdiplam Treatment

A multi-center, longitudinal, prospective, non-comparative study to investigate the long-term safety and effectiveness of risdiplam, prescribed based on clinician judgment as per the Evrysdi® U.S. Package Information (USPI) in adult and pediatric participants with SMA. In this study, participants will be followed for approximately 24 months from enrollment or until withdrawal of consent, loss to follow-up, or death. Participants who discontinue risdiplam may still remain in the study if they agree to continue participating in the follow-up assessments.

An optional sub-study was planned to assess the feasibility, acceptability, and adherence of remote assessment of motor and bulbar functions in participants with SMA using wearable and smartphone-based biosensors. This substudy was withdrawn upon implementation of protocol version 4.

Study Overview

• Status: Active, not recruiting
• Conditions: Spinal Muscular Atrophy
• Intervention / Treatment: Drug: Risdiplam

• Study Type: Interventional
• Enrollment (Actual): 403
• Phase: Phase 4

Contacts and Locations

Study Locations

• Puerto Rico
  • Santurce, Puerto Rico, 00912
    • Instituto de Rehabilitación del Caribe
• United States
  • Arizona
    • Phoenix, Arizona, United States, 85016
      • Phoenix Children's Hospital
    • Phoenix, Arizona, United States, 85013
      • Barrow Neurological Institute
  • Arkansas
    • Little Rock, Arkansas, United States, 72103
      • University of Arkansas for Medical Sciences
  • California
    • Loma Linda, California, United States, 92354
      • Loma Linda University Health Care
    • Los Angeles, California, United States, 90010
      • Children's Hospital Los Angeles
    • Madera, California, United States, 93636
      • Valley Children's Hospital
    • Orange, California, United States, 92868
      • University California - Irvine
    • Sacramento, California, United States, 95817
      • University of California Davis Medical Center
  • Colorado
    • Aurora, Colorado, United States, 80045
      • University of Colorado
  • District of Columbia
    • Washington D.C., District of Columbia, United States, 20010
      • Children's National Hospital
    • Washington D.C., District of Columbia, United States, 20007
      • MedStar Georgetown University Hospital
  • Florida
    • Orlando, Florida, United States, 32827
      • Nemour's Children's Hospital, Florida
    • St. Petersburg, Florida, United States, 33701
      • All Children's Research Institute, Inc.
    • Winter Park, Florida, United States, 32789
      • Advent Health Orlando
  • Georgia
    • Atlanta, Georgia, United States, 30329
      • Rare Disease Research, LLC
  • Kentucky
    • Lexington, Kentucky, United States, 40536
      • University of Kentucky Medical Center
    • Louisville, Kentucky, United States, 40202
      • Norton Children's Hospital
  • Massachusetts
    • Boston, Massachusetts, United States, 02114
      • Massachusetts General Hospital
  • Michigan
    • Ann Arbor, Michigan, United States, 48109
      • University of Michigan Pediatric Rehabilitation Center
    • Grand Rapids, Michigan, United States, 49503
      • Helen DeVos Children's Hospital at Spectrum Health
  • Minnesota
    • Minnetonka, Minnesota, United States, 55343
      • Gillette Children's Specialty Healthcare
    • Rochester, Minnesota, United States, 55905
      • Mayo Clinic
  • Missouri
    • St Louis, Missouri, United States, 63110
      • Washington University;Wash Uni. Sch. Of Med
  • New York
    • New York, New York, United States, 10003
      • NYU Hospital for Joint Diseases
    • New York, New York, United States, 10032
      • Columbia University Med Center
  • Ohio
    • Cincinnati, Ohio, United States, 45229
      • Cincinnati Childrens Hospital
  • Pennsylvania
    • Hershey, Pennsylvania, United States, 17033
      • Penn State Milton S. Hershey Medical Center
    • Philadelphia, Pennsylvania, United States, 19104
      • Childrens Hospital Of Philadelphia
  • Texas
    • Austin, Texas, United States, 78723
      • University of Texas at Austin Health sciences, Dell Medical School
    • Denton, Texas, United States, 76208
      • Neurology & Neuromuscular Care Center
    • Round Rock, Texas, United States, 78681
      • Central Texas Neurology Consultants
    • San Antonio, Texas, United States, 78229
      • Methodist Children's Hospital of South Texas
  • Utah
    • Salt Lake City, Utah, United States, 84108
      • University of Utah
  • Virginia
    • Charlottesville, Virginia, United States, 22903
      • University of Virginia Children?s Hospital
  • Washington
    • Tacoma, Washington, United States, 98405
      • MultiCare Health System Institute for Research and Innovation
  • West Virginia
    • Morgantown, West Virginia, United States, 26508
      • UBC (Remote Coordinating Center, no physical facility)
  • Wisconsin
    • Milwaukee, Wisconsin, United States, 53201
      • Childrens Hospital of Wisconsin

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

Description

Inclusion Criteria:

• Provide informed consent or assent when appropriate, as determined by the participant's age and individual site and local standards
• Prescribed or continued risdiplam based on clinical judgment of prescriber, as per the risdiplam (Evrysdi) USPI, after U.S. FDA approval (07 August 2020)

Exclusion Criteria:

• Hypersensitivity to risdiplam
• Participated in a registrational trial for risdiplam (i.e., Firefish [NCT02913482], Sunfish [NCT02908685], Jewelfish [NCT03032172], and Rainbowfish [NCT03779334])

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Treatment
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm

Intervention / Treatment

Experimental: Risdiplam; Participants who are taking risdiplam prescribed based on clinician judgment, as per the Evrysdi® USPI are enrolled in this study. A Remote Virtual Site option is available in the study allowing enrollment of participants with SMA who are prescribed risdiplam treatment even if their physician is not a participating investigator. A central investigator will be responsible for data collection and data entry for participants who do not have a participating investigator.

Drug: Risdiplam; Risdiplam taken by participants as prescribed by their physician.; Other Names: Evrysdi®

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Number of Participants With Adverse Events (AEs), Adverse Events of Special Interest (AESIs), and Serious Adverse Events (SAEs)	An AE is any untoward medical occurrence in a participant administered a pharmaceutical product and which does not necessarily have to have a causal relationship with the treatment. An AE can therefore be any unfavorable and unintended sign (including an abnormal laboratory finding, for example), symptom, or disease temporally associated with the use of a pharmaceutical product, whether or not considered related to the pharmaceutical product. Pre-existing conditions which worsen during a study are also considered as AE.	From enrollment up to the duration of the study or until withdrawal of consent, loss to follow-up, or death (up to approximately 24 months)

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Percentage of Participants Considered Improved on the Clinical Global Impression of Change (CGI-C) Scale	The CGI-C is used to score a clinician's impression of a participant's change in global health. The CGI-C is a single item measure of change in global health, using seven response options: "very much improved", "much improved", "minimally improved", "no change", "minimally worse", "much worse", and "very much worse". Participants considered as "improved" include responses of "very much improved, "much improved" and "minimally improved".	From enrollment up to the duration of the study or until withdrawal of consent, loss to follow-up, or death (up to approximately 24 months)

Collaborators and Investigators

• Sponsor: Genentech, Inc.
• Investigators: Study Director: Clinical Trials, Hoffmann-La Roche

Study record dates

Study Major Dates

• Study Start (Actual): March 29, 2022
• Primary Completion (Estimated): December 31, 2026
• Study Completion (Estimated): December 31, 2026

Study Registration Dates

• First Submitted: January 31, 2022
• First Submitted That Met QC Criteria: January 31, 2022
• First Posted (Actual): February 10, 2022

Study Record Updates

• Last Update Posted (Actual): April 20, 2026
• Last Update Submitted That Met QC Criteria: April 17, 2026
• Last Verified: April 1, 2026

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Central Nervous System Diseases; Nervous System Diseases; Neuromuscular Diseases; Neurodegenerative Diseases; Spinal Cord Diseases; Motor Neuron Disease; Muscular Atrophy, Spinal; Physiological Effects of Drugs; Peripheral Nervous System Agents; Neuromuscular Agents; Risdiplam
• Other Study ID Numbers: ML43702

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: YES
• IPD Plan Description: For eligible studies, qualified researchers may request access to individual patient level clinical data. See Roche's commitment to transparency of clinical study information here: https://go.roche.com/data_sharing

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: Yes
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No