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A Study Evaluating the Effectiveness and Safety of Risdiplam Administered in Pediatric Patients With Spinal Muscular Atrophy Who Experienced a Plateau or Decline in Function After Gene Therapy

Phase 4
Recruiting
Conditions
Muscular Atrophy, Spinal
Interventions
Registration Number
NCT05861999
Lead Sponsor
Hoffmann-La Roche
Brief Summary

This is an open-label, single-arm, multicenter clinical study to evaluate the effectiveness and safety of risdiplam administered in pediatric participants with SMA and 2 SMN2 copies who previously received onasemnogene abeparvovec and experience a plateau or decline in function. Participants to be enrolled are children \<2 years of age genetically diagnosed with SMA.

Detailed Description

Not available

Recruitment & Eligibility

Status
RECRUITING
Sex
All
Target Recruitment
28
Inclusion Criteria
  • <2 years of age at the time of informed consent
  • Confirmed diagnosis of 5q-autosomal recessive SMA
  • Confirmed presence of two SMN2 gene copies
  • Administration of onasemnogene abeparvovec pre-symptomatically or post-symptomatically
  • Has received onasemnogene abeparvovec for SMA no less than 3 months prior to enrollment
  • In the opinion of the investigator, has demonstrated a plateau or decline in function post-gene therapy (with a duration of 6 months or less) documented by 2 individual time points in the functions as follows: swallowing AND one additional function/ability (respiratory, motor function, other) per appropriate expectation.
Exclusion Criteria
  • Treatment with investigational therapy prior to initiation of study treatment
  • Any unresolved standard-of-care laboratory abnormalities per the onasemnogene abeparvovec prescribing information
  • Concomitant or previous administration of a SMN2-targeting antisense oligonucleotide or SMN2 splicing modifier either in a clinical study or as part of medical care
  • Requiring invasive ventilation or tracheostomy
  • Presence of feeding tube and an OrSAT score of 0
  • Hospitalization for pulmonary event within the last 2 months, or any planned hospitalization at the time of screening
  • Any major illness requiring hospitalization within 1 month before the screening examination or any febrile illness within 1 week prior to screening and up to first dose administration.

Study & Design

Study Type
INTERVENTIONAL
Study Design
SINGLE_GROUP
Arm && Interventions
GroupInterventionDescription
RisdiplamrisdiplamParticipants will receive risdiplam orally once daily for 72 weeks (Treatment Period). The Treatment Period will be followed by a 1-year Treatment Extension Period for a total study duration of 120 weeks (approximately 2.5 years) for each participant enrolled.
Primary Outcome Measures
NameTimeMethod
Change from Baseline in the Raw Score of Bayley Scales of Infant and Toddler Development - Third Edition (BSID-III) Gross Motor Score at 72 Weeks of Risdiplam TreatmentBaseline, Week 72
Secondary Outcome Measures
NameTimeMethod
Percentage of Participants With Adverse EventsUp to 120 weeks
Percentage of Participants With Serious Adverse EventsUp to 120 weeks
Percentage of Participants With Treatment Discontinuation Due to Adverse EventsUp to 120 weeks

Trial Locations

Locations (18)

Children'S Hospital of Philadelphia

🇺🇸

Philadelphia, Pennsylvania, United States

University of Arkansas for Medical Sciences

🇺🇸

Little Rock, Arkansas, United States

Valley Children's Hospital

🇺🇸

Madera, California, United States

Stanford Univ Medical Center

🇺🇸

Palo Alto, California, United States

Children's Hospital of Colorado

🇺🇸

Aurora, Colorado, United States

University of Florida Pediatrics

🇺🇸

Gainesville, Florida, United States

Children's Healthcare of Atlanta Center for Advanced Pediatrics

🇺🇸

Atlanta, Georgia, United States

University of Texas Southwestern Medical Center

🇺🇸

Dallas, Texas, United States

Children's Hospital of the King's Daughter

🇺🇸

Norfolk, Virginia, United States

Charité - Universitätsmedizin Berlin SPZ Abteilung Neuropaediatrie

🇩🇪

Berlin, Germany

UKGM Standort Gießen

🇩🇪

Gießen, Germany

Soroka Medical Center

🇮🇱

Beer Sheva, Israel

Schneider Children's Medical Center of Israel

🇮🇱

Petach Tikva, Israel

Sourasky MC, Dana-Dwek Children's Hospital

🇮🇱

Tel Aviv, Israel

Uniwersyteckie Centrum Kliniczne

🇵🇱

Gda?sk, Poland

Instytut Pomnik Centrum Zdrowia Dziecka

🇵🇱

Warszawa, Poland

Sidra Medicine

🇶🇦

Ar-Rayyan, Doha, Qatar

Great Ormond Street Hospital For Children

🇬🇧

London, United Kingdom

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