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Completed

NCT Number: NCT05808764

A 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.

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Key information

Conditions

Muscular Atrophy, Spinal Central Nervous System Diseases Motor Neuron Disease Nervous System Diseases Neurodegenerative Diseases Neuromuscular Diseases Spinal Cord Diseases

Age range

Up to 19 day

Sex eligibility

All sexes

Study type

Interventional

Phase

Phase 2

Primary location

Hopital Universitaire des Enfants Reine Fabiola, Brussels, Belgium

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Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Risdiplam

Drug

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

Other names: Evrysdi

Primary outcomes

  1. Plasma Concentrations of Risdiplam

    Time frame: From Day 1 through Day 28

  2. Area Under the Plasma Concentration-Time Curve (AUC) of Risdiplam

    Time frame: From Day 1 through Day 28

  3. Steady-state Concentration (Css) of Risdiplam

    Time frame: From Day 1 through Day 28

  4. Risdiplam Free Fraction

    Time frame: From Day 1 through Day 28

  5. Percentage of Participants With Adverse Events

    Time frame: Up to 30 days after the final dose of study treatment (up to 58 days)

  6. Percentage of Participants With Serious Adverse Events

    Time frame: Up to 30 days after the final dose of study treatment (up to 58 days)

  7. 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)

Sponsors and collaborators

Lead sponsor

Hoffmann-La Roche

Industry

Registry information

Official study title

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

Acronym: PUPFISH

Important dates

Study start
2024
Primary completion
2026
Study completion
2026
First posted
Apr 11, 2023
Registry last updated
Jun 22, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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