Phase 1
N=15
Gene Transfer Clinical Trial for Spinal Muscular Atrophy Type 1
Spinal Muscular Atrophy 1
Bottom Line
View on ClinicalTrials.gov: NCT02122952 ↗Enrolled (actual)
15
Serious AEs
86.7%
Results posted
May 2019
Primary outcome: Primary: Number of Participants That Experienced One Grade III or Higher Unanticipated, Treatment-related Toxicity That Presents With Clinical Symptoms and Requires Medical Treatment — 1; 3 Participants
Study Design & Population
- Study type
- Interventional
- Phase
- Phase 1
- Interventions
- AVXS-101 (Biological)
- Age
- Pediatric
- Sex
- All
- Sponsor
- Novartis Gene Therapies
- Primary completion
- Dec 2017
Outcome Measures
| Outcome | Result | p-value |
|---|---|---|
| PRIMARY Number of Participants That Experienced One Grade III or Higher Unanticipated, Treatment-related Toxicity That Presents With Clinical Symptoms and Requires Medical Treatment |
1; 3 | — |
| SECONDARY Number of Participants Who Experienced Permanent Ventilation or Death |
0; 0 | — |
| SECONDARY Percent Change From Baseline in Mean Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) Score |
30.7 | — |
| SECONDARY Number of Participants With Assessed Improvement in Motor Function |
0; 9 | <0.001 sig |
Summary
The purpose of this trial is to evaluate safety and efficacy of intravenous delivery of AVXS-101 as a treatment of spinal muscular atrophy Type 1 (SMN1).
Eligibility Criteria
Inclusion Criteria
- Six or nine months of age and younger (depending on cohort) on day of vector infusion with Type 1 SMA as defined by the following features:
- Diagnosis of SMA based on gene mutation analysis with bi-allelic SMN1 mutations (deletion or point mutations) and 2 copies of SMN2.
- Onset of disease at birth up to 6 months of age.
- Hypotonia by clinical evaluation with delay in motor skills, poor head control, round shoulder posture and hypermobility of joints.
Exclusion Criteria
- Active viral infection (includes HIV or serology positive for hepatitis B or C)
- Use of invasive ventilatory support (tracheotomy with positive pressure)* or pulse oximetry 1:50 as determined by ELISA binding immunoassay.
- Abnormal laboratory values considered clinically significant (GGT > 3XULN, bilirubin ≥ 3.0 mg/dL , creatinine ≥ 1.8 mg/dL, Hgb 18 g/Dl; WBC > 20,000 per cmm) Participation in a recent SMA treatment clinical trial that in the opinion of the PI creates unnecessary risks for gene transfer.
- Family does not want to disclose patient's study participation with primary care physician and other medical providers.
- Patient with signs of aspiration based on a swallowing test and unwilling to use an alternative method to oral feeding.
- Patients with a single base substitution in SMN2 (c.859G>C in exon 7) will be excluded based on predicted mild phenotype.
Data sourced from ClinicalTrials.gov (NCT02122952). Outcome figures and adverse-event rates are extracted automatically from the registry's posted results and are provided for clinician reference, not as a substitute for the primary publication.