Trial · NCT03779334
A Study of Risdiplam in Infants With Genetically Diagnosed and Presymptomatic Spinal Muscular Atrophy
NCT03779334, Phase 2, Active not recruiting, Hoffmann-La Roche; results first posted 2024-03-05
3 sourcestrials-2026-11-12-0.5.0
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ConductScience Library. A Study of Risdiplam in Infants With Genetically Diagnosed and Presymptomatic Spinal Muscular Atrophy. Trials, record NCT03779334. Release trials-2026-11-12-0.5.0, 12 Nov 2026. https://conductscience.org/library/trials/NCT03779334
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Trial
As registered on ClinicalTrials.gov, in the graph's capture of the registry.
- Title
- A Study of Risdiplam in Infants With Genetically Diagnosed and Presymptomatic Spinal Muscular Atrophy
- NCT number
- NCT03779334
- Status
- Active not recruiting
- Phases
- Phase 2
- Enrollment
- 26 participants, actual
- Lead sponsor
- Hoffmann-La Roche
- Conditions
- Muscular Atrophy, Spinal
- Interventions
- Risdiplam
- First posted
- 2018-12-19
- Last updated
- 2026-10-08
- Other registries' IDs
- eudract:2018-002087-12
- Results first posted
- 2024-03-05
Source ClinicalTrials.gov
Registered outcomes28
Each outcome the trial registered, primary first, in ClinicalTrials.gov's words.
| List | Outcome | Time frame | Description |
|---|---|---|---|
| Primary | Percentage of Participants With Two Copies of the Survival Motor Neuron (SMN) 2 Gene (Excluding the Known SMN2 Gene Modifier Mutation c.859G>C) and Baseline Compound Muscle Action Potential (CMAP) >=1.5 Millivolt (mV) Who Are Sitting Without Support | At Month 12 | The Bayley Scales of Infant and Toddler Development, Third Edition (BSID-III) Gross Motor Scale is a commonly used measure of infant and toddler development (0 to 42 months). The normed-scores derived from the BSID-III are used in clinical practice to detect infants with developmental delays, as well as to evaluate developmental progress and the impact of therapeutic interventions. The gross motor scale consists of 72 items scored at 0 (unable to perform the activity) or 1 (criteria for item achieved). Item 22, "sits without support for 5 seconds", is not considered achieved if the infant sits alone for less than 5 seconds before losing balance and falling over, or if the infant uses his or her arms to prop him- or herself up. 90% CI for one sample binomial was computed using Clopper-Pearson (exact) method. An exact binomial test was performed. If the lower limit of the two-sided 90% CI was above the 5% threshold, the primary objective of the study was considered achieved. |
| Secondary | Percentage of Participants Developing Clinically Manifested SMA | At Month 12 and 24 | |
| Secondary | Time to Permanent Ventilation and/or Death | Up to 7 years | |
| Secondary | Percentage of Participants Who Are Alive Without Permanent Ventilation | At Month 12 and 24 | |
| Secondary | Percentage of Participants Alive | At Month 12 and 24 | |
| Secondary | Percentage of Participants Who Achieve the Attainment Level of the Motor Milestones as Assessed in the Hammersmith Infant Neurological Examination-2 (HINE-2) | At Month 12 and 24 | HINE-2 assessment includes head control, sitting, voluntary grasp, ability to kick, rolling, crawling, standing, and walking |
| Secondary | Percentage of Participants With Two Copies of the SMN2 Gene Sitting Without Support for 5 Seconds (Independent of the CMAP Value at Baseline). | At Month 12 | Assessed in Item 22 of the BSID-III Gross Motor Scale. The BSID-III is a commonly used measure of infant and toddler development (0 to 42 months). The normed-scores derived from the BSID-III are used in clinical practice to detect infants with developmental delays, as well as to evaluate developmental progress and the impact of therapeutic interventions. The gross motor scale consists of 72 items scored at 0 (unable to perform the activity) or 1 (criteria for item achieved). Item 22, "sits without support for 5 seconds", is not considered achieved if the infant sits alone for less than 5 seconds before losing balance and falling over, or if the infant uses his or her arms to prop him- or herself up. 90% CI for one sample binomial was computed using Clopper-Pearson (exact) method. |
| Secondary | Percentage of Participants Sitting Without Support for 5 Seconds | At Month 24 | Assessed with BSID-III Gross Motor Scale |
| Secondary | Percentage of Participants Sitting Without Support for 30 Seconds | At Month 12 and 24 | Assessed with BSID-III Gross Motor Scale |
| Secondary | Percentage of Participants Standing for at Least 3 Seconds | At Month 24 | Assessed with BSID-III Gross Motor Scale |
1 to 10 of 28Source ClinicalTrials.gov
See all 28 registered outcomesOutcomes28
Each outcome the trial posted results for, in ClinicalTrials.gov's words.
| Type | Outcome | Time frame | Population | Units | Measured as |
|---|---|---|---|---|---|
| PRIMARY | Percentage of Participants With Two Copies of the Survival Motor Neuron (SMN) 2 Gene (Excluding the Known SMN2 Gene Modifier Mutation c.859G>C) and Baseline Compound Muscle Action Potential (CMAP) >=1.5 Millivolt (mV) Who Are Sitting Without Support | At Month 12 | Primary efficacy population included all infants in the intent-to-treat (ITT) population with two SMN2 copies (excluding the known SMN2 gene modifier mutation c.859G\>C) and a baseline compound muscle action potential (CMAP) amplitude \>/= 1.5 mV. | percentage of participants | NUMBER |
| SECONDARY | Percentage of Participants Developing Clinically Manifested SMA | At Month 12 and 24 | |||
| SECONDARY | Time to Permanent Ventilation and/or Death | Up to 7 years | |||
| SECONDARY | Percentage of Participants Who Are Alive Without Permanent Ventilation | At Month 12 and 24 | |||
| SECONDARY | Percentage of Participants Alive | At Month 12 and 24 | |||
| SECONDARY | Percentage of Participants Who Achieve the Attainment Level of the Motor Milestones as Assessed in the Hammersmith Infant Neurological Examination-2 (HINE-2) | At Month 12 and 24 | |||
| SECONDARY | Percentage of Participants With Two Copies of the SMN2 Gene Sitting Without Support for 5 Seconds (Independent of the CMAP Value at Baseline). | At Month 12 | Intent-to-treat (ITT) population included all enrolled participants, regardless of whether they received risdiplam or not. Only participants with two copies of the SMN2 gene were included in this outcome measure. | percentage of participants | NUMBER |
| SECONDARY | Percentage of Participants Sitting Without Support for 5 Seconds | At Month 24 | |||
| SECONDARY | Percentage of Participants Sitting Without Support for 30 Seconds | At Month 12 and 24 | |||
| SECONDARY | Percentage of Participants Standing for at Least 3 Seconds | At Month 24 |
1 to 10 of 28Source ClinicalTrials.gov
See all 28 outcomesResults by group17
Each measurement the trial posted, group by group, in the words and numbers it posted.
| Outcome | Group | Category | Value | Spread | Units |
|---|---|---|---|---|---|
Percentage of Participants With Two Copies of the Survival Motor Neuron (SMN) 2 Gene (Excluding the Known SMN2 Gene Modifier Mutation c.859G>C) and Baseline Compound Muscle Action Potential (CMAP) >=1.5 Millivolt (mV) Who Are Sitting Without Support | 2 SMN2 Copies, Risdiplam | 80.0 | 90% Confidence Interval 34.26 to 98.98 | percentage of participants | |
| Percentage of Participants With Two Copies of the SMN2 Gene Sitting Without Support for 5 Seconds (Independent of the CMAP Value at Baseline). | 2 SMN2 Copies, Risdiplam | 87.5 | 90% Confidence Interval 52.93 to 99.36 | percentage of participants | |
| Change From Baseline Score in the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) Motor Function Scale at Month 12 | 2 SMN2 Copies, Risdiplam | Baseline | 46.50 | Full Range 35.0 to 52.0 | score on a scale |
| Change From Baseline Score in the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) Motor Function Scale at Month 12 | 3 SMN2 Copies, Risdiplam | Baseline | 55.00 | Full Range 44.0 to 62.0 | score on a scale |
| Change From Baseline Score in the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) Motor Function Scale at Month 12 | >/=4 SMN2 Copies, Risdiplam | Baseline | 50.00 | Full Range 44.0 to 52.0 | score on a scale |
| Change From Baseline Score in the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) Motor Function Scale at Month 12 | 2 SMN2 Copies, Risdiplam | Change from Baseline at Month 12 | 9.50 | Full Range -6.0 to 20.0 | score on a scale |
| Change From Baseline Score in the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) Motor Function Scale at Month 12 | 3 SMN2 Copies, Risdiplam | Change from Baseline at Month 12 | 8.00 | Full Range 2.0 to 20.0 | score on a scale |
| Change From Baseline Score in the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) Motor Function Scale at Month 12 | >/=4 SMN2 Copies, Risdiplam | Change from Baseline at Month 12 | 16.00 | Full Range 8.0 to 19.0 | score on a scale |
| Percentage of Participants Who Achieve a Score of 40 or Higher, 50 or Higher, and 60 or Higher in the CHOP INTEND Motor Function Scale at Month 12 | 2 SMN2 Copies, Risdiplam | Score >=40 | 75.0 | 90% Confidence Interval 40.03 to 95.36 | percentage of participants |
| Percentage of Participants Who Achieve a Score of 40 or Higher, 50 or Higher, and 60 or Higher in the CHOP INTEND Motor Function Scale at Month 12 | 3 SMN2 Copies, Risdiplam | Score >=40 | 100 | 90% Confidence Interval 79.42 to 100.00 | percentage of participants |
1 to 10 of 17Source ClinicalTrials.gov
See all 17 results by groupParticipant flow12
How many started, completed or left each group, period by period.
| Period | Milestone | Group | Participants | Units counted |
|---|---|---|---|---|
| Overall Study | STARTED | 2 SMN2 Copies, Risdiplam | 8 | |
| Overall Study | STARTED | 3 SMN2 Copies, Risdiplam | 13 | |
| Overall Study | STARTED | >/=4 SMN2 Copies, Risdiplam | 5 | |
| Overall Study | Primary Efficacy Population | 2 SMN2 Copies, Risdiplam | 5 | |
| Overall Study | Primary Efficacy Population | 3 SMN2 Copies, Risdiplam | 0 | |
| Overall Study | Primary Efficacy Population | >/=4 SMN2 Copies, Risdiplam | 0 | |
| Overall Study | COMPLETED | 2 SMN2 Copies, Risdiplam | 0 | |
| Overall Study | COMPLETED | 3 SMN2 Copies, Risdiplam | 0 | |
| Overall Study | COMPLETED | >/=4 SMN2 Copies, Risdiplam | 0 | |
| Overall Study | NOT COMPLETED | 2 SMN2 Copies, Risdiplam | 8 |
1 to 10 of 12Source ClinicalTrials.gov
See all 12 participant flowAdverse events264
Each adverse event the trial posted, group by group: the participants affected out of those at risk.
| Type | Event | Organ system | Group | Affected | At risk | Events |
|---|---|---|---|---|---|---|
| other | Anaemia | Blood and lymphatic system disorders | 2 SMN2 Copies, Risdiplam | 1 | 8 | 1 |
| other | Anaemia | Blood and lymphatic system disorders | 3 SMN2 Copies, Risdiplam | 1 | 13 | 1 |
| other | Anaemia | Blood and lymphatic system disorders | >/=4 SMN2 Copies, Risdiplam | 0 | 5 | 0 |
| other | Cryptorchism | Congenital, familial and genetic disorders | 2 SMN2 Copies, Risdiplam | 1 | 8 | 1 |
| other | Cryptorchism | Congenital, familial and genetic disorders | 3 SMN2 Copies, Risdiplam | 0 | 13 | 0 |
| other | Cryptorchism | Congenital, familial and genetic disorders | >/=4 SMN2 Copies, Risdiplam | 0 | 5 | 0 |
| other | Cystoid macular oedema | Eye disorders | 2 SMN2 Copies, Risdiplam | 1 | 8 | 1 |
| other | Cystoid macular oedema | Eye disorders | 3 SMN2 Copies, Risdiplam | 0 | 13 | 0 |
| other | Cystoid macular oedema | Eye disorders | >/=4 SMN2 Copies, Risdiplam | 0 | 5 | 0 |
| other | Retinal pigmentation | Eye disorders | 2 SMN2 Copies, Risdiplam | 0 | 8 | 0 |
1 to 10 of 264Source ClinicalTrials.gov
See all 264 adverse eventsAdverse event totals9
The totals the trial posted for each group.
| Total | Group | Affected | At risk |
|---|---|---|---|
| Total, all-cause mortality | 2 SMN2 Copies, Risdiplam | 0 | 8 |
| Total, all-cause mortality | 3 SMN2 Copies, Risdiplam | 0 | 13 |
| Total, all-cause mortality | >/=4 SMN2 Copies, Risdiplam | 0 | 5 |
| Total, other adverse events | 2 SMN2 Copies, Risdiplam | 8 | 8 |
| Total, other adverse events | 3 SMN2 Copies, Risdiplam | 12 | 13 |
| Total, other adverse events | >/=4 SMN2 Copies, Risdiplam | 4 | 5 |
| Total, serious adverse events | 2 SMN2 Copies, Risdiplam | 3 | 8 |
| Total, serious adverse events | 3 SMN2 Copies, Risdiplam | 0 | 13 |
| Total, serious adverse events | >/=4 SMN2 Copies, Risdiplam | 1 | 5 |
Source ClinicalTrials.gov
Papers1
The papers the trial lists on ClinicalTrials.gov.
| PMID | Listed as |
|---|---|
| 40802943 | DERIVED |
Source PubMed
Grants0
The grants NIH RePORTER links to the trial, newest funded first: NIH's, and some of AHRQ's, CDC's, FDA's and VA's. Each shows its title, principal investigators, organization and funder in its newest year.
None in this release.
Trial comparisons0
Comparisons of the trial's two groups, calculated by ConductScience from the counts it posted.
None in this release.
Tests0
The ConductCognition tests this trial's registered outcomes name, as ScienceGraph matched them in trial-tests-2026-11-12-0.2.1.
None in this release.
Data dates
The day each source was copied for this release.
Sources 3
- ClinicalTrials.gov's posted results, through CTTI's AACTFreely available. Acknowledgement requested
- ClinicalTrials.govNo license stated
- NIH RePORTER's clinical studies and project filesPublic domain
Each source's terms
- ClinicalTrials.gov's posted results, through CTTI's AACTClinicalTrials.gov data via Aggregate Analysis of ClinicalTrials.gov (AACT), CTTI. CTTI makes its materials freely available and requests acknowledgement. https://aact.ctti-clinicaltrials.org/documentation/299
- ClinicalTrials.govnone stated
- NIH RePORTER's clinical studies and project filesPublic domain (NIH RePORTER)
ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.
For software
Read this trial from software.
The record and each of its lists are JSON, twenty rows a page. No key.
GET https://conductscience.org/api/trials/v1/NCT03779334
GET https://conductscience.org/api/trials/v1/NCT03779334/registered?page=2