Participants with later-onset 5q spinal muscular atrophy (SMA)
Conditions
Interventions
None listed
Sponsors
Kagoshima University Graduate School of Medical and Dental Sciences
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: Patients must meet all of the following criteria: (1) Patients who are scheduled to initiate or have already initiated high-dose nusinersen under routine clinical practice. (2) Patients who are able to provide written informed consent by themselves. Patients must be able to understand the purpose and risks of the study, and written informed consent must be obtained in accordance with national and local data protection laws. If the patient has sufficient decision-making capacity but has difficulty writing due to progression of the underlying disease, written informed consent may be obtained by proxy writing, provided that the patient's willingness to participate is confirmed and a witness is present. (3) Patients with a genetically confirmed diagnosis of late-onset 5q spinal muscular atrophy (SMA) (Type II, Type III, or Type IV). (4) Patients who are 18 years of age or older at the time of obtaining informed consent. (5) Patients who are able to attend follow-up visits at least once per year during the study period.
Exclusion criteria
Exclusion criteria: Candidates will be excluded from study entry if any of the following criteria apply at screening: (1) Medical or psychiatric conditions that may interfere with the ability to comply with study procedures or assessments. (2) Current enrollment in ASCEND or any other investigational nusinersen trial. (3) Current or planned enrollment in an investigational trial for SMN-directed therapy or SMA gene therapy. (4) Patients who are deemed inappropriate as observational study participants by the principal investigator or a sub-investigator.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Change from baseline to 12 months in MFI-20 total score | — |
Countries
Japan
Contacts
Public ContactRie Yokokawa
EPS Corporation Clinical Research Center, RWE Division
Outcome results
None listed