Trial Outcomes & Findings for Single-Dose Gene Replacement Therapy Using for Patients With Spinal Muscular Atrophy Type 1 With One or Two SMN2 Copies (NCT NCT03837184)
NCT ID: NCT03837184
Last Updated: 2026-01-26
Results Overview
Independent sitting is defined by the World Health Organization Multicentre Growth Reference Study, confirmed by video recording, as a participant who sits up straight unsupported for at least 10 seconds.
Recruitment status
COMPLETED
Study phase
PHASE3
Target enrollment
2 participants
Primary outcome timeframe
From Baseline up to 18 Months of Age Visit
Results posted on
2026-01-26
Participant Flow
A total of 2 participants took part in the trial at a single site in Taiwan between May 2019 and June 2021.
A total of 5 participants were screened, of which 3 were screen failures and 2 were enrolled and received study drug.
Participant milestones
| Measure |
AVXS-101
Participants received a single dose of AVXS-101 administered as an intravenous (IV) infusion over 60 minutes at a dose of 1.1 × 10\^14 vg/kg (vector genome per kilogram) on Day 1 of the overall study. Participants also received daily doses of prophylactic oral prednisolone starting at a dose of 1-2 mg/kg/day from 1 day prior to AVXS-101 infusion until at least 30 days post-infusion at which point the prednisolone dose could be tapered downwards. At week 9, prednisolone could be discontinued.
|
|---|---|
|
Overall Study
STARTED
|
2
|
|
Overall Study
COMPLETED
|
2
|
|
Overall Study
NOT COMPLETED
|
0
|
Reasons for withdrawal
Withdrawal data not reported
Baseline Characteristics
Single-Dose Gene Replacement Therapy Using for Patients With Spinal Muscular Atrophy Type 1 With One or Two SMN2 Copies
Baseline characteristics by cohort
| Measure |
AVXS-101
n=2 Participants
Participants received a single dose of AVXS-101 administered as an intravenous (IV) infusion over 60 minutes at a dose of 1.1 × 10\^14 vg/kg (vector genome per kilogram) on Day 1 of the overall study. Participants also received daily doses of prophylactic oral prednisolone starting at a dose of 1-2 mg/kg/day from 1 day prior to AVXS-101 infusion until at least 30 days post-infusion at which point the prednisolone dose could be tapered downwards. At week 9, prednisolone could be discontinued.
|
|---|---|
|
Age, Categorical
<=18 years
|
2 Participants
n=25 Participants
|
|
Age, Categorical
Between 18 and 65 years
|
0 Participants
n=25 Participants
|
|
Age, Categorical
>=65 years
|
0 Participants
n=25 Participants
|
|
Sex: Female, Male
Female
|
1 Participants
n=25 Participants
|
|
Sex: Female, Male
Male
|
1 Participants
n=25 Participants
|
|
Ethnicity (NIH/OMB)
Hispanic or Latino
|
0 Participants
n=25 Participants
|
|
Ethnicity (NIH/OMB)
Not Hispanic or Latino
|
2 Participants
n=25 Participants
|
|
Ethnicity (NIH/OMB)
Unknown or Not Reported
|
0 Participants
n=25 Participants
|
|
Race (NIH/OMB)
American Indian or Alaska Native
|
0 Participants
n=25 Participants
|
|
Race (NIH/OMB)
Asian
|
2 Participants
n=25 Participants
|
|
Race (NIH/OMB)
Native Hawaiian or Other Pacific Islander
|
0 Participants
n=25 Participants
|
|
Race (NIH/OMB)
Black or African American
|
0 Participants
n=25 Participants
|
|
Race (NIH/OMB)
White
|
0 Participants
n=25 Participants
|
|
Race (NIH/OMB)
More than one race
|
0 Participants
n=25 Participants
|
|
Race (NIH/OMB)
Unknown or Not Reported
|
0 Participants
n=25 Participants
|
|
SMN2 gene modifier mutation (c.859G>C) Present
|
0 Participants
n=25 Participants
|
PRIMARY outcome
Timeframe: From Baseline up to 18 Months of Age VisitPopulation: Intent-to-Treat (ITT) population - Symptomatic participants with biallelic deletion mutations of survival of motor neuron 1 (SMN1) (exon 7/8 common homozygous deletions) and 2 copies of survival of motor neuron 2 (SMN2) without the known gene modifier mutation (c.859G\>C) who received an IV infusion of AVXS-101 at less than 180 days of age.
Independent sitting is defined by the World Health Organization Multicentre Growth Reference Study, confirmed by video recording, as a participant who sits up straight unsupported for at least 10 seconds.
Outcome measures
| Measure |
AVXS-101
n=2 Participants
Participants received a single dose of AVXS-101 administered as an intravenous (IV) infusion over 60 minutes at a dose of 1.1 × 10\^14 vg/kg (vector genome per kilogram) on Day 1 of the overall study. Participants also received daily doses of prophylactic oral prednisolone starting at a dose of 1-2 mg/kg/day from 1 day prior to AVXS-101 infusion until at least 30 days post-infusion at which point the prednisolone dose could be tapered downwards. At week 9, prednisolone could be discontinued.
|
|---|---|
|
Number of Participants Who Achieved Sitting Alone for at Least 10 Seconds
|
1 Participants
|
SECONDARY outcome
Timeframe: From Baseline up to 14 Months of AgePopulation: ITT population - Symptomatic participants with biallelic deletion mutations of SMN1 (exon 7/8 common homozygous deletions) and 2 copies of SMN2 without the known gene modifier mutation (c.859G\>C) who received an IV infusion of AVXS-101 at less than 180 days of age.
Event-free survival at 14 months of age was defined as the number of participants who did not die, did not require permanent ventilation and did not withdraw from the study by 14 months of age.
Outcome measures
| Measure |
AVXS-101
n=2 Participants
Participants received a single dose of AVXS-101 administered as an intravenous (IV) infusion over 60 minutes at a dose of 1.1 × 10\^14 vg/kg (vector genome per kilogram) on Day 1 of the overall study. Participants also received daily doses of prophylactic oral prednisolone starting at a dose of 1-2 mg/kg/day from 1 day prior to AVXS-101 infusion until at least 30 days post-infusion at which point the prednisolone dose could be tapered downwards. At week 9, prednisolone could be discontinued.
|
|---|---|
|
Event-free Survival at 14 Months of Age
|
2 Participants
|
Adverse Events
AVXS-101
Serious events: 1 serious events
Other events: 2 other events
Deaths: 0 deaths
Serious adverse events
| Measure |
AVXS-101
n=2 participants at risk
Participants received a single dose of AVXS-101 administered as an intravenous (IV) infusion over 60 minutes at a dose of 1.1 × 10\^14 vg/kg (vector genome per kilogram) on Day 1 of the overall study. Participants also received daily doses of prophylactic oral prednisolone starting at a dose of 1-2 mg/kg/day from 1 day prior to AVXS-101 infusion until at least 30 days post-infusion at which point the prednisolone dose could be tapered downwards. At week 9, prednisolone could be discontinued.
|
|---|---|
|
Gastrointestinal disorders
Dysphagia
|
50.0%
1/2 • Number of events 1 • From Day 1 up to 18 Months of Age Visit (total duration of approximately 12-18 months depending on age at dosing).
|
Other adverse events
| Measure |
AVXS-101
n=2 participants at risk
Participants received a single dose of AVXS-101 administered as an intravenous (IV) infusion over 60 minutes at a dose of 1.1 × 10\^14 vg/kg (vector genome per kilogram) on Day 1 of the overall study. Participants also received daily doses of prophylactic oral prednisolone starting at a dose of 1-2 mg/kg/day from 1 day prior to AVXS-101 infusion until at least 30 days post-infusion at which point the prednisolone dose could be tapered downwards. At week 9, prednisolone could be discontinued.
|
|---|---|
|
Congenital, familial and genetic disorders
Cleft Palate
|
50.0%
1/2 • Number of events 1 • From Day 1 up to 18 Months of Age Visit (total duration of approximately 12-18 months depending on age at dosing).
|
|
Respiratory, thoracic and mediastinal disorders
Respiratory distress
|
50.0%
1/2 • Number of events 1 • From Day 1 up to 18 Months of Age Visit (total duration of approximately 12-18 months depending on age at dosing).
|
|
Infections and infestations
Pharyngitis
|
50.0%
1/2 • Number of events 1 • From Day 1 up to 18 Months of Age Visit (total duration of approximately 12-18 months depending on age at dosing).
|
|
Respiratory, thoracic and mediastinal disorders
Rhonchi
|
50.0%
1/2 • Number of events 1 • From Day 1 up to 18 Months of Age Visit (total duration of approximately 12-18 months depending on age at dosing).
|
|
Respiratory, thoracic and mediastinal disorders
Tachypnoea
|
50.0%
1/2 • Number of events 1 • From Day 1 up to 18 Months of Age Visit (total duration of approximately 12-18 months depending on age at dosing).
|
|
General disorders
Pyrexia
|
50.0%
1/2 • Number of events 3 • From Day 1 up to 18 Months of Age Visit (total duration of approximately 12-18 months depending on age at dosing).
|
|
Gastrointestinal disorders
Dysphagia
|
100.0%
2/2 • Number of events 3 • From Day 1 up to 18 Months of Age Visit (total duration of approximately 12-18 months depending on age at dosing).
|
|
Gastrointestinal disorders
Gastrointestinal hypomotility
|
50.0%
1/2 • Number of events 1 • From Day 1 up to 18 Months of Age Visit (total duration of approximately 12-18 months depending on age at dosing).
|
|
Gastrointestinal disorders
Gastrooesophageal reflux disease
|
50.0%
1/2 • Number of events 1 • From Day 1 up to 18 Months of Age Visit (total duration of approximately 12-18 months depending on age at dosing).
|
|
Gastrointestinal disorders
Upper gastrointestinal haemorrhage
|
50.0%
1/2 • Number of events 1 • From Day 1 up to 18 Months of Age Visit (total duration of approximately 12-18 months depending on age at dosing).
|
|
Metabolism and nutrition disorders
Failure to thrive
|
100.0%
2/2 • Number of events 2 • From Day 1 up to 18 Months of Age Visit (total duration of approximately 12-18 months depending on age at dosing).
|
|
Gastrointestinal disorders
Hiatus hernia
|
50.0%
1/2 • Number of events 1 • From Day 1 up to 18 Months of Age Visit (total duration of approximately 12-18 months depending on age at dosing).
|
|
Investigations
Glucose urine present
|
50.0%
1/2 • Number of events 1 • From Day 1 up to 18 Months of Age Visit (total duration of approximately 12-18 months depending on age at dosing).
|
|
Infections and infestations
Gingivitis
|
50.0%
1/2 • Number of events 1 • From Day 1 up to 18 Months of Age Visit (total duration of approximately 12-18 months depending on age at dosing).
|
|
Renal and urinary disorders
Glycosuria
|
50.0%
1/2 • Number of events 1 • From Day 1 up to 18 Months of Age Visit (total duration of approximately 12-18 months depending on age at dosing).
|
|
Infections and infestations
Upper respiratory tract infection
|
50.0%
1/2 • Number of events 4 • From Day 1 up to 18 Months of Age Visit (total duration of approximately 12-18 months depending on age at dosing).
|
|
Skin and subcutaneous tissue disorders
Eczema
|
50.0%
1/2 • Number of events 1 • From Day 1 up to 18 Months of Age Visit (total duration of approximately 12-18 months depending on age at dosing).
|
|
Skin and subcutaneous tissue disorders
Dermatitis diaper
|
50.0%
1/2 • Number of events 1 • From Day 1 up to 18 Months of Age Visit (total duration of approximately 12-18 months depending on age at dosing).
|
|
Infections and infestations
Urinary tract infection/
|
50.0%
1/2 • Number of events 1 • From Day 1 up to 18 Months of Age Visit (total duration of approximately 12-18 months depending on age at dosing).
|
|
Skin and subcutaneous tissue disorders
Rash
|
50.0%
1/2 • Number of events 1 • From Day 1 up to 18 Months of Age Visit (total duration of approximately 12-18 months depending on age at dosing).
|
Additional Information
EMEA Medical Information
Novartis Gene Therapies EU Limited
Phone: +353 (1) 566-2364
Email: [email protected]
Results disclosure agreements
- Principal investigator is a sponsor employee Depending on local requirements, Sponsor's consent necessary before publication of study, or Sponsor can review results communications before public release with a right to request changes to communications regarding trial results between 40 to 60 and up to 90 or 120 days, as applicable, from the time submitted to Sponsor for review to remove references to Sponsor's Confidential Information or delay results communications to permit Sponsor to obtain appropriate Intellectual Property protection.
- Publication restrictions are in place
Restriction type: OTHER