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

NCT05808764 | Completed Phase 2 FDA Drug

• 2 other identifiers: BN446192023-505602-42-00
• Study Type: interventional
• Target: 11
• Locations: 8 countries
• Sites: 13

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.

Conditions

Muscular Atrophy, Spinal

Outcome Measures

Primary Outcomes (7)

• 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

• Risdiplam Free Fraction

  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)

Study Arms (1)

Risdiplam

EXPERIMENTAL

Participants will receive risdiplam once daily for 28 days.

Drug: Risdiplam

Interventions

Risdiplam DRUG

Participants will receive 0.15 mg/kg risdiplam orally once daily for 28 days.

Also known as: Evrysdi

Risdiplam

Eligibility Criteria

• Age: Up to 19 Days
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)

You may qualify if:

• 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.

You may not qualify if:

• 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

Sponsors & Collaborators

• Hoffmann-La Roche: lead

Study Sites (13)

Ann and Robert H. Lurie Children Hospital of Chicago

Chicago, Illinois, 60611, United States

Location

University Of Michigan

Ann Arbor, Michigan, 48109, United States

Location

Clinic for Special Children.

Gordonville, Pennsylvania, 17529, United States

Location

Hopital Universitaire des Enfants Reine Fabiola

Brussels, 1020, Belgium

Location

CHR Citadelle

Liège, 4000, Belgium

Location

Children'S Hospital of Eastern Ontario

Ottawa, Ontario, K1H 8L1, Canada

Location

Universitatsklinikum Essen

Essen, 45147, Germany

Location

Fondazione Serena Onlus - CENTRO CLINICO NEMO

Milano, Emilia-Romagna, 20162, Italy

Location

Fondazione Policlinico Univeristario A. Gemelli

ROMA, Emilia-Romagna, 00168, Italy

Location

UMC Utrecht

Utrecht, 3508, Netherlands

Location

OUS (Oslo University Hospital), Rikshospitalet

Oslo, 0372, Norway

Location

Uniwersyteckie Centrum Kliniczne

Gdansk, 80-952, Poland

Location

Instytut Pomnik - Centrum Zdrowia Dziecka

Warsaw, 04-730, Poland

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 2
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 30, 2023
• First Posted: April 11, 2023
• Study Start: April 26, 2024
• Primary Completion: May 4, 2026
• Study Completion: May 4, 2026
• Last Updated: June 22, 2026

Record last verified: 2026-06

Data Sharing

• IPD Sharing: Will share

Locations

NO (1); PL (2); NL (1); BE (2); US (3); IT (2); CA (1); DE (1)