Muscular Atrophy, SpinalPhase 2PUPFISHNCT05808764
A Study to Investigate the Pharmacokinetics and Safety of Risdiplam in Infants With Spinal Muscular Atrophy
A Phase 2 study testing Risdiplam in people with Muscular Atrophy, Spinal, run by Hoffmann-La Roche at 13 sites in 8 countries.
Trial 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. Read more about this study
- Who is it for?
- Ages Up to 19 days
- Conditions the study is for
- Muscular Atrophy, Spinal
- What is being tested?
- Risdiplam
- Type of treatment
- Pill or oral medicine
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 11 participants
- Where
- 13 sitesin 8 countries
- Study dates
- 26 Apr 2024to 4 May 2026
- Phase
- Phase 2
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Up to 19 days
- All sexes
- No healthy volunteers
- Child
Who may be able to join
- 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.
Who cannot join
- 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
Trial locations and contacts
13 sites in 8 countries.
13 sites in 8 countries
United States3 sites
University Of Michigan
Ann Arbor, Michigan, 48109
Ann and Robert H. Lurie Children Hospital of Chicago
Chicago, Illinois, 60611
Clinic for Special Children.
Gordonville, Pennsylvania, 17529
Belgium2 sites
Hopital Universitaire des Enfants Reine Fabiola
Brussels, 1020
CHR Citadelle
Liège, 4000
Italy2 sites
Fondazione Serena Onlus - CENTRO CLINICO NEMO
Milano, Emilia-Romagna, 20162
Fondazione Policlinico Univeristario A. Gemelli
ROMA, Emilia-Romagna, 00168
Poland2 sites
Uniwersyteckie Centrum Kliniczne
Gdansk, 80-952
Instytut Pomnik - Centrum Zdrowia Dziecka
Warsaw, 04-730
About this study
Official title: 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.
- Conditions
- Muscular Atrophy, Spinal
- Being tested
- Risdiplam
- Medical subject headings
- Muscular Atrophy, Spinal
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
RisdiplamDrug
Also called Evrysdi
Participants will receive 0.15 mg/kg risdiplam orally once daily for 28 days.
| Study group | Role | What they receive |
|---|---|---|
| Risdiplam | Experimental | Participants will receive risdiplam once daily for 28 days. Receives: Drug: Risdiplam |
What is being measured
The primary outcome is the main question the study is designed to answer.
Plasma Concentrations of Risdiplam
Measured: From Day 1 through Day 28
Area Under the Plasma Concentration-Time Curve (AUC) of Risdiplam
Measured: From Day 1 through Day 28
Steady-state Concentration (Css) of Risdiplam
Measured: From Day 1 through Day 28
Risdiplam Free Fraction
Measured: From Day 1 through Day 28
Percentage of Participants With Adverse Events
Measured: Up to 30 days after the final dose of study treatment (up to 58 days)
Percentage of Participants With Serious Adverse Events
Measured: 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
Measured: Up to 30 days after the final dose of study treatment (up to 58 days)
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted11 Apr 2023
- Study start26 Apr 2024
- Primary completion4 May 2026
- Study completion4 May 2026
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Muscular Atrophy, SpinalStudies of the same condition, open and under way.
- More trials run by Hoffmann-La RocheThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 2
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 11 participants (actual)
Sponsor and investigators
- Lead sponsor
- Hoffmann-La Roche
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Clinical Trials, Study director, Hoffmann-La Roche
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05808764
- Sponsor's protocol ID
- BN44619
- Other IDs
- 2023-505602-42-00, 2023
- Acronym
- PUPFISH
- Status last verified
- Jun 2026
- First submitted
- 30 Mar 2023
- Last updated
- 22 Jun 2026
- Results posted
- No
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
- Individual data sharing
- Yes: 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
Study at a glance
From the registry record, last updated by the sponsor on 22 Jun 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Phase II, Open-label Study to Investigate the Pharmacokinetics and Safety of Risdiplam in Infants With Spinal Muscular Atrophy
- ClinicalTrials.gov ID
- NCT05808764
- Acronym / sponsor ID
- PUPFISH / BN44619
- Conditions
- Muscular Atrophy, Spinal
- Phase
- Phase 2
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 11 participants (actual)
- Lead sponsor
- Hoffmann-La RocheIndustry (pharma, biotech, devices)
- Study start
- 26 Apr 2024 (actual)
- Primary completion
- 4 May 2026 (actual)
- Study completion
- 4 May 2026 (actual)
- First posted
- 11 Apr 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Risdiplam | Experimental | Drug: RisdiplamParticipants will receive risdiplam once daily for 28 days. |
Who may qualify
- Ages
- Up to 19 days
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
Key inclusion criteria (6 listed)
- 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
Key exclusion criteria (7 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| RisdiplamAlso: EvrysdiParticipants will receive 0.15 mg/kg risdiplam orally once daily for 28 days. | Drug | Risdiplam |
Primary outcome
Plasma Concentrations of Risdiplam
Time frame: From Day 1 through Day 28
Area Under the Plasma Concentration-Time Curve (AUC) of Risdiplam
Time frame: From Day 1 through Day 28
Steady-state Concentration (Css) of Risdiplam
Time frame: From Day 1 through Day 28
Risdiplam Free Fraction
Time frame: 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)
Percentage of Participants With Serious Adverse Events
Time frame: 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)
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 22 Jun 2026.
- Individual participant dataSharing planned: Yes. 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
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Clinical Trials study director
Hoffmann-La Roche
13 sites in 8 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 2 study testing Risdiplam in people with Muscular Atrophy, Spinal, run by Hoffmann-La Roche at 13 sites in 8 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 6 inclusion and 7 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 22 Jun 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 13 sites in United States, Belgium, Italy, Poland, Canada and 3 more countries. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this phase mean?
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Plasma Concentrations of Risdiplam (time frame: From Day 1 through Day 28). The study lists 7 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 22 Jun 2026.