Expanded Access Program to provide Nusinersen to Patients with infantile-onset spinal muscular atrophy (SMA)
- Conditions
- G12.0Infantile spinal muscular atrophy, type I [Werdnig-Hoffman]
- Registration Number
- DRKS00011547
- Lead Sponsor
- Klinik für Neuropädiatrie und MuskelerkrankungenZentrum für Kinder- und JugendmedizinUniversitätsklinikum Freiburg
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Complete
- Sex
- All
- Target Recruitment
- 61
Patients must meet all of the following criteria to be eligible:
- Genetic documentation of 5q SMA homozygous gene deletion, homozygous mutation, or compound heterozygote
- Onset of clinical signs and symptoms at = 6 months (180 days) of age, consistent with infantile onset, Type I SMA
- Treatment with Nusinersen within the EAP
- Informed consent for the study
- Patient qualifies to participate in an ongoing clinical trial with nusinersen
- Participation in a prior nusinersen study
- Previous exposure to nusinersen
- History of brain or spinal cord disease that would interfere with the LP procedures or CSF circulation
- Presence of implanted shunt for the drainage of CSF or implanted CNS catheter
- Previous or current participation in a clinical trial with an investigational gene therapy for SMA
- Participation in a study with an investigational therapy for SMA within 6 months or five half-lives of the investigational drug, whichever is the longer, prior to the first dose of nusinersen.
Study & Design
- Study Type
- observational
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Documentation of patients' motor function and the achievment of motor milestones. Recording and analysis of parents' experience during the EAP.
- Secondary Outcome Measures
Name Time Method Hours per day requiring mechanical ventilation, or onset of mechanical ventilation. Evaluation of adverse events