RecruitingPhase 4NCT05861986

A Study Evaluating the Effectiveness and Safety of Risdiplam Administered as an Early Intervention in Pediatric Participants With Spinal Muscular Atrophy After Gene Therapy

A Phase IV Open-Label Study Evaluating the Effectiveness and Safety of Risdiplam Administered as an Early Intervention in Pediatric Patients With Spinal Muscular Atrophy After Gene Therapy


Sponsor

Hoffmann-La Roche

Enrollment

28 participants

Start Date

May 30, 2024

Study Type

INTERVENTIONAL

Conditions

Summary

This is an open-label, single-arm, multicenter clinical study to evaluate the effectiveness and safety of risdiplam administered as an early intervention in pediatric participants with spinal muscular atrophy (SMA) and 2 SMN2 copies who have previously received onasemnogene abeparvovec. Participants are children \< 2 years of age genetically diagnosed with SMA.


Eligibility

Min Age: 3 MonthsMax Age: 24 Months

Inclusion Criteria7

  • <2 years of age at the time of informed consent
  • Confirmed diagnosis of 5q-autosomal recessive SMA, including genetic confirmation of homozygous deletion or compound heterozygosity predictive of loss of function of the Survival of Motor Neuron 1 (SMN1) gene
  • Confirmed presence of two SMN2 gene copies as documented through laboratory testing
  • Administration of onasemnogene abeparvovec pre-symptomatically or post-symptomatically
  • Has received onasemnogene abeparvovec for SMA no less than 13 weeks, but not more than months 30 weeks, prior to enrollment
  • If treated with risdiplam prior to onasemnogene abeparvovec, risdiplam treatment must not have exceeded 3 weeks and must be discontinued 1 day prior to onasemnogene abeparvovec administration
  • Has, in the opinion of the investigator, not experienced clinically significant decline in function from the time of onasemnogene abeparvovec administration

Exclusion Criteria9

  • Previous or current enrolment in investigational study prior to initiation of study treatment
  • Any unresolved standard-of-care laboratory abnormalities per the onasemnogene abeparvovec prescribing information
  • Concomitant or previous administration of an SMN2-targeting antisense oligonucleotide
  • Concomitant or previous use of an anti-myostatin agent
  • Participants requiring invasive ventilation or tracheostomy
  • Participants requiring awake non-invasive ventilation or with awake hypoxemia (Arterial Oxygen Saturation \[SaO2\] <95%) with or without ventilator support
  • 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.

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Interventions

DRUGRisdiplam

Participants will receive risdiplam orally at the currently approved dose. The dose should be adapted for weight and age.


Locations(16)

University of Arkansas for Medical Sciences

Little Rock, Arkansas, 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

Ann and Robert H. Lurie Children Hospital of Chicago

Chicago, Illinois, United States

Helen DeVos Children's Hospital at Spectrum Health

Grand Rapids, Michigan, United States

Columbia University Medical Center

New York, New York, United States

Children'S Hospital of Philadelphia

Philadelphia, Pennsylvania, United States

The University of Texas Southwestern Medical Center at Dallas

Dallas, Texas, United States

Cook Children's Jane and John Justin Neurosciences Center

Fort Worth, 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

Uniwersyteckie Centrum Kliniczne

Uniwersyteckie Centrum Kliniczne, Poland

Instytut Pomnik Centrum Zdrowia Dziecka

Warsaw, Poland

Great Ormond Street Hospital For Children

London, United Kingdom

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NCT05861986


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