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

Roche

Status and phase

Enrolling

Phase 2

Conditions

Muscular Atrophy, Spinal

Treatments

Drug: Risdiplam

Study type

Interventional

Funder types

Industry

Identifiers

NCT05808764

BN44619

2023-505602-42-00 (Registry Identifier)

Details and patient eligibility

About

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.

Enrollment

10 estimated patients

Sex

All

Ages

Under 19 days old

Volunteers

No Healthy Volunteers

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