A Study to Investigate the Pharmacokinetics and Safety of Risdiplam in Infants With Spinal Muscular Atrophy

Phase 2

Recruiting

• Conditions: Muscular Atrophy, Spinal
• Interventions: Drug: Risdiplam

• Registration Number: NCT05808764
• Lead Sponsor: Hoffmann-La Roche

Brief Summary

This study will evaluate the pharmacokinetics (PK) and safety of risdiplam in participants with spinal muscular atrophy (SMA) under 20 days of age at first dose.

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2023-03-30
• Study First Submitted QC: 2023-03-30
• Study First Posted: 2023-04-11
• Study Start: 2024-04-26
• Status Verified: 2025-05
• Last Update Submitted: 2025-05-19
• Last Update Posted: 2025-05-20
• Primary Completion: 2025-10-30
• Study Completion: 2025-10-30

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 10

Inclusion Criteria

• Male or female newborn infant aged <20 days at first dose
• Newborn infants with genetic diagnosis of 5q-autosomal recessive SMA or newborn infants identified as positive for SMA via newborn screening or via prenatal testing.
• Gestational age equal to or greater than 37 weeks
• Receiving adequate nutrition and hydration at the time of screening
• Adequately recovered from any acute illness at baseline and considered well enough to participate in the study
• Parent/caregiver is willing to consider nasogastric, nasojejunal, or gastrostomy tube placement during the study to maintain safe hydration, nutrition, and treatment delivery, if recommended by the investigator.

Exclusion Criteria

• Presence of clinical symptoms or signs consistent with SMA Type 0
• In the opinion of the investigator, inadequate venous or capillary blood access for the study procedures
• Systolic blood pressure or diastolic blood pressure or heart rate abnormalities
• Presence of clinically relevant electrocardiogram (ECG) abnormalities
• The infant (or the person breastfeeding the infant) taking any of the following: any inhibitor of CYP3A4 taken within 2 weeks (or within 5 times the elimination half-life, whichever is longer) prior to dosing, any inducer of CYP3A4 taken within 4 weeks (or within 5 times the elimination half-life, whichever is longer prior to dosing, and/or use of any multidrug and toxin extrusion (MATE) substrates taken within 2 weeks (or within 5 times the elimination half-life, whichever is longer) prior to dosing
• Concurrent or previous administration of nusinersen or onasemnogene abeparvovec
• Clinically significant abnormalities in laboratory test

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
Risdiplam	Risdiplam	Participants will receive risdiplam once daily for 28 days.

Primary Outcome Measures

Name	Time	Method
Risdiplam Free Fraction	From Day 1 through Day 28
Plasma Concentrations of Risdiplam	From Day 1 through Day 28
Area Under the Plasma Concentration-Time Curve (AUC) of Risdiplam	From Day 1 through Day 28
Steady-state Concentration (Css) of Risdiplam	From Day 1 through Day 28
Percentage of Participants With Adverse Events	Up to 30 days after the final dose of study treatment (up to 58 days)
Percentage of Participants With Serious Adverse Events	Up to 30 days after the final dose of study treatment (up to 58 days)
Percentage of Participants With Treatment Discontinuation due to Adverse Events	Up to 30 days after the final dose of study treatment (up to 58 days)

Trial Locations

Locations (13)

University Of Michigan; 🇺🇸 Ann Arbor, Michigan, United States

Instytut Pomnik - Centrum Zdrowia Dziecka; 🇵🇱 Warszawa, Poland

Ann and Robert H. Lurie Children Hospital of Chicago; 🇺🇸 Chicago, Illinois, United States

Clinic for Special Children.; 🇺🇸 Gordonville, Pennsylvania, United States

Hopital Universitaire des Enfants Reine Fabiola; 🇧🇪 Bruxelles, Belgium

CHR Citadelle; 🇧🇪 Liege, Belgium

Children'S Hospital of Eastern Ontario; 🇨🇦 Ottawa, Ontario, Canada

Universitatsklinikum Essen; 🇩🇪 Essen, Germany

Fondazione Serena Onlus - CENTRO CLINICO NEMO; 🇮🇹 Milano, Emilia-Romagna, Italy

Fondazione Policlinico Univeristario A. Gemelli; 🇮🇹 Roma, Emilia-Romagna, Italy

UMC Utrecht; 🇳🇱 Utrecht, Netherlands

OUS (Oslo University Hospital), Rikshospitalet; 🇳🇴 Oslo, Norway

Uniwersyteckie Centrum Kliniczne; 🇵🇱 Gda?sk, Poland