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

May 1, 2026 updated by: Hoffmann-La Roche

A Phase II, Open-label Study to Investigate the Pharmacokinetics and Safety of Risdiplam in Infants With Spinal Muscular Atrophy

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.

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

Study Type

Interventional

Enrollment (Estimated)

10

Phase

  • Phase 2

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • Belgium
      • Brussels, Belgium, 1020
        • Recruiting
        • Hôpital Universitaire Des Enfants Reine Fabiola
      • Liège, Belgium, 4000
        • Recruiting
        • CHR Citadelle
  • Canada
    • Ontario
      • Ottawa, Ontario, Canada, K1H 8L1
        • Recruiting
        • Children's Hospital of Eastern Ontario
  • Germany
      • Essen, Germany, 45147
        • Recruiting
        • Universitätsklinikum Essen
  • Italy
    • Emilia-Romagna
      • Milano, Emilia-Romagna, Italy, 20162
        • Recruiting
        • Fondazione Serena Onlus - Centro Clinico Nemo
      • ROMA, Emilia-Romagna, Italy, 00168
        • Recruiting
        • Fondazione Policlinico Univeristario A. Gemelli
  • Netherlands
      • Utrecht, Netherlands, 3508
        • Recruiting
        • UMC Utrecht
  • Norway
      • Oslo, Norway, 0372
        • Recruiting
        • OUS (Oslo University Hospital), Rikshospitalet
  • Poland
      • Gdansk, Poland, 80-952
        • Recruiting
        • Uniwersyteckie Centrum Kliniczne
      • Warsaw, Poland, 04-730
        • Recruiting
        • Instytut Pomnik - Centrum Zdrowia Dziecka
  • United States
    • Illinois
      • Chicago, Illinois, United States, 60611
        • Recruiting
        • Ann and Robert H. Lurie Children Hospital of Chicago
    • Michigan
      • Ann Arbor, Michigan, United States, 48109
        • Recruiting
        • University of Michigan
    • Pennsylvania
      • Gordonville, Pennsylvania, United States, 17529
        • Recruiting
        • Clinic for Special Children.

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child

Accepts Healthy Volunteers

No

Description

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 Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Treatment
  • Allocation: N/A
  • Interventional Model: Single Group Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
Experimental: Risdiplam
Participants will receive risdiplam once daily for 28 days.
Drug: Risdiplam
Participants will receive 0.15 mg/kg risdiplam orally once daily for 28 days.
Other Names:
  • Evrysdi

What is the study measuring?

Primary Outcome Measures

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

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Hoffmann-La Roche

Investigators

  • Study Director: Clinical Trials, Hoffmann-La Roche

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

April 26, 2024

Primary Completion (Estimated)

November 30, 2026

Study Completion (Estimated)

November 30, 2026

Study Registration Dates

First Submitted

March 30, 2023

First Submitted That Met QC Criteria

March 30, 2023

First Posted (Actual)

April 11, 2023

Study Record Updates

Last Update Posted (Actual)

May 4, 2026

Last Update Submitted That Met QC Criteria

May 1, 2026

Last Verified

May 1, 2026

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • BN44619
  • 2023-505602-42-00 (Ctis: EU CT Number)

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

YES

IPD Plan Description

For eligible studies, qualified researchers may request access to individual patient level clinical data. See Roche's commitment to transparency of clinical study information here: https://go.roche.com/data_sharing

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

Yes

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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