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Recruiting NCT07070999

Study of Safety, Tolerability and Efficacy of GB221 in Infants With Spinal Muscular Atrophy Type 1

Phase I / Phase II Interventional Spinal Muscular Atrophy Type I

For patients and families

In plain language

An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.

What is being studied
The protocol lists: GB221.
Who it may be relevant to
Registry conditions: Spinal Muscular Atrophy Type I. Basic parameters: 2 Weeks — 12 months · All.
What needs checking
Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
Where it takes place
Brazil
Next step
Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →

Unsure about the terms? Read our patient guide →

Official title

A Phase 1-2, Open-Label, Multicenter Study to Assess the Safety, Tolerability and Efficacy of a Single Dose of GB221 Delivered Into the Cisterna Magna of Pediatric Participants From 2 Weeks to Younger Than 12 Months of Age With Spinal Muscular Atrophy Type 1

Overview

GB221 is a gene therapy that delivers a working SMN1 gene to the motor neurons of people with spinal muscular atrophy (SMA) Type 1. This study will evaluate the safety, tolerability and efficacy of GB221 in two groups: 1. participants aged from 2 weeks to younger than 12 months presenting with symptoms of SMA Type 1 who have never received a treatment OR are receiving the drug risdiplam 2. participants aged from 2 weeks to younger than 5 months who are at risk of developing SMA Type 1 (presymptomatic) and have never received treatment OR are receiving the drug risdiplam.

Interventions

  • Biological GB221
    GB221

Primary outcome measures

  • Number of participants with treatment-related adverse events (AEs) and serious adverse events (SAEs) at Grade 3 or higher as characterized by CTCAEv5.0 [Time frame: Up to 18 months across multiple visits]
  • Number of Participants with Clinically Significant Changes in Physical Functions [Time frame: Up to 18 months across multiple visits]
  • Number of Participants with Clinically Significant Changes in Neurological Functions [Time frame: Up to 18 months across multiple visits]
  • Number of Participants with Clinically Significant Changes in Vital signs [Time frame: Up to 18 months across multiple visits]
  • Change in electrocardiogram results [Time frame: Up to 18 months across multiple visits]
  • Change in serum cardiac troponin I levels [Time frame: Up to 18 months across multiple visits]
  • Number of Participants with Clinically Significant Laboratory Abnormalities as Measured Using Hematology, Chemistry and Coagulation Tests [Time frame: Up to 18 months across multiple visits]
  • Number of Participants with Clinically Significant Laboratory Abnormalities as Measured Using Urine and CSF Tests [Time frame: Up to 18 months across multiple visits]
  • Change in markers of immunogenicity [Time frame: Up to 18 months across multiple visits]
Secondary outcome measures (3)
  • Assess the number of participants who experience permanent ventilation or death [Time frame: Up to 18 months across multiple visits]
  • Percentage of infants with improvement in the motor milestones categories in Section 2 of the Hammersmith Infant Neurological Examination (HINE), with the exclusion of voluntary grasp. [Time frame: Baseline, 6 months and 18 months post dose.]
  • Change from baseline in mean Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) Score. [Time frame: Baseline, 6 months and 18 months post dose.]

Eligibility criteria

Inclusion criteria

  • Symptomatic Participants
  • Diagnosis of SMA Type 1 based on gene mutation analysis with bi-allelic SMN1 mutations (deletion or point mutations) and up to 3 copies of SMN2
  • Participants must be 2 weeks to < 12 months of age at the time of dosing with disease onset of during the first 6 months of life.
  • Presymptomatic Participants
  • At risk of SMA Type 1 based on gene mutation analysis with bi-allelic SMN1 mutations (deletion or point mutations) and up to 2 copies of SMN2
  • Participants must be 2 weeks to < 5 months (< 150 days) of age at the time of dosing.

Exclusion criteria

  • Any suspected or confirmed active viral infection at screening baseline (including HIV, Hepatitis B or C, or human T Cell lymphotropic viruses \[HTLV\])
  • History of invasive ventilatory support (tracheotomy with positive pressure) or pulse oximetry <95% saturation.
  • Ongoing immunosuppressive therapy or immunosuppressive therapy within 3 months of starting the trial (e.g. corticosteroids, cyclosporine, tacrolimus, methotrexate, cyclophosphamide, intravenous immunoglobulin, rituximab)
  • Participation in a recent SMA treatment clinical trial that, in the opinion of the Investigator, creates unnecessary risks for gene transfer.
  • Prior history of gene therapy for any indication, hematopoietic transplant or solid organ transplant
  • Subjects with severe scoliosis
  • Known allergy or hypersensitivity to prednisolone or other glucocorticosteroids or their excipients.

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: No

Study design

Allocation
Non-randomized
Model
Sequential
Masking
Open label
Primary purpose
Treatment

Study locations

Brazil · 1 center
  • Hospital de Clínicas de Porto Alegre — Porto Alegre

Identifiers

NCT: NCT07070999 · GB221-101 · CHARISMA

Primary sources (government registries)

View this study on ClinicalTrials.gov ↗