Expanded Access Program to provide Nusinersen to Patients with infantile-onset spinal muscular atrophy (SMA)

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

DRKS

Registry ID

DRKS00011547

Enrollment

Registered

2017-01-11

Start date

2017-01-16

Completion date

Unknown

Last updated

2025-04-07

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

G12.0

Interventions

Group 1: Evaluation of all clinical data collected by physicians and physiotherapists during the EAP (ID NCT02865109). Study visits: Day 1, day 15, day 30, day 60, day 180, then every 120 days. Perf

Eligibility

Sex/Gender

All

Age

No minimum to 18 Years

Inclusion criteria

Inclusion criteria: 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

Exclusion criteria

Exclusion criteria: - 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.

Design outcomes

Primary

Measure	Time frame
Documentation of patients' motor function and the achievment of motor milestones. Recording and analysis of parents' experience during the EAP.	—

Secondary

Measure	Time frame
Hours per day requiring mechanical ventilation, or onset of mechanical ventilation. Evaluation of adverse events	—

Countries

Germany

Contacts

Public ContactSabine Wider

Klinik für Neuropädiatrie und MuskelerkrankungenZentrum für Kinder- und JugendmedizinUniversitätsklinikum Freiburg

sabine.wider@uniklinik-freiburg.de076127043440

Outcome results

None listed

Source: DRKS (via WHO ICTRP) · Data processed: Feb 4, 2026