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

NCT05232929 | Active Not Recruiting Phase 4 FDA Drug

• 1 other identifier: ML43702
• Study Type: interventional
• Target: 403
• Locations: 2 countries
• Sites: 38

Brief Summary

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 This substudy was withdrawn upon implementation of protocol version 4.

Conditions

Spinal Muscular Atrophy

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (1)

• Percentage of Participants Considered Improved on the Clinical Global Impression of Change (CGI-C) Scale

  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)

Study Arms (1)

Risdiplam

EXPERIMENTAL

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

Interventions

Risdiplam DRUG

Risdiplam taken by participants as prescribed by their physician.

Also known as: Evrysdi®

Risdiplam

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• 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)

You may not qualify if:

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

Sponsors & Collaborators

• Genentech, Inc.: lead

Study Sites (38)

Barrow Neurological Institute

Phoenix, Arizona, 85013, United States

Location

Phoenix Children's Hospital

Phoenix, Arizona, 85016, United States

Location

University of Arkansas for Medical Sciences

Little Rock, Arkansas, 72103, United States

Location

Loma Linda University Health Care

Loma Linda, California, 92354, United States

Location

Children's Hospital Los Angeles

Los Angeles, California, 90010, United States

Location

Valley Children's Hospital

Madera, California, 93636, United States

Location

University California - Irvine

Orange, California, 92868, United States

Location

University of California Davis Medical Center

Sacramento, California, 95817, United States

Location

University of Colorado

Aurora, Colorado, 80045, United States

Location

Medstar Georgetown University Hospital

Washington D.C., District of Columbia, 20007, United States

Location

Children's National Hospital

Washington D.C., District of Columbia, 20010, United States

Location

Nemour's Children's Hospital, Florida

Orlando, Florida, 32827, United States

Location

All Children's Research Institute, Inc.

St. Petersburg, Florida, 33701, United States

Location

Advent Health Orlando

Winter Park, Florida, 32789, United States

Location

Rare Disease Research, LLC

Atlanta, Georgia, 30329, United States

Location

University of Kentucky Medical Center

Lexington, Kentucky, 40536, United States

Location

Norton Children's Hospital

Louisville, Kentucky, 40202, United States

Location

Massachusetts General Hospital

Boston, Massachusetts, 02114, United States

Location

University of Michigan Pediatric Rehabilitation Center

Ann Arbor, Michigan, 48109, United States

Location

Helen DeVos Children's Hospital at Spectrum Health

Grand Rapids, Michigan, 49503, United States

Location

Gillette Children's Specialty Healthcare

Minnetonka, Minnesota, 55343, United States

Location

Mayo Clinic

Rochester, Minnesota, 55905, United States

Location

Washington University;Wash Uni. Sch. Of Med

St Louis, Missouri, 63110, United States

Location

NYU Hospital for Joint Diseases

New York, New York, 10003, United States

Location

Columbia University Med Center

New York, New York, 10032, United States

Location

Cincinnati Childrens Hospital

Cincinnati, Ohio, 45229, United States

Location

Penn State Milton S. Hershey Medical Center

Hershey, Pennsylvania, 17033, United States

Location

Childrens Hospital of Philadelphia

Philadelphia, Pennsylvania, 19104, United States

Location

University of Texas at Austin Health sciences, Dell Medical School

Austin, Texas, 78723, United States

Location

Neurology & Neuromuscular Care Center

Denton, Texas, 76208, United States

Location

Central Texas Neurology Consultants

Round Rock, Texas, 78681, United States

Location

Methodist Children's Hospital of South Texas

San Antonio, Texas, 78229, United States

Location

University Of Utah

Salt Lake City, Utah, 84108, United States

Location

University of Virginia Children?s Hospital

Charlottesville, Virginia, 22903, United States

Location

MultiCare Health System Institute for Research and Innovation

Tacoma, Washington, 98405, United States

Location

UBC (Remote Coordinating Center, no physical facility)

Morgantown, West Virginia, 26508, United States

Location

Childrens Hospital of Wisconsin

Milwaukee, Wisconsin, 53201, United States

Location

Instituto de Rehabilitación del Caribe

Santurce, 00912, Puerto Rico

Location

MeSH Terms

Conditions

Muscular Atrophy, Spinal

Interventions

Risdiplam

Condition Hierarchy (Ancestors)

Spinal Cord Diseases; Central Nervous System Diseases; Nervous System Diseases; Motor Neuron Disease; Neurodegenerative Diseases; Neuromuscular Diseases

Study Officials

• Clinical Trials

  Hoffmann-La Roche

  STUDY DIRECTOR

Study Design

• Study Type: interventional
• Phase: phase 4
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 31, 2022
• First Posted: February 10, 2022
• Study Start: March 29, 2022
• Primary Completion (Estimated): December 31, 2026
• Study Completion (Estimated): December 31, 2026
• Last Updated: April 20, 2026

Record last verified: 2026-04

Data Sharing

• IPD Sharing: Will share

Locations

US (37); PR (1)