Spinal Muscular Atrophy
Conditions
Interventions
None listed
Sponsors
CHUGAI PHARMACEUTICAL CO.LTD.
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: Type 2, 3 or 4 SMA patients who meet all the following criteria (1)Patients who provide written informed consent/assent for participation in the study, whose ages are 6 years and older at the time of enrollment (2)Patients who have deletions or mutations in the SMN1 gene that are expected to cause loss of function and clinical symptoms due to Type 2, 3 or 4 SMA are observed (3)Patients who can keep a sitting position without assistance of others and perform the 9-hole peg test at least once (4)Patients whose RULM score are less than or equal to 36 points (5)Patients who are to receive or are already receiving Risdiplam according to the package insert
Exclusion criteria
Exclusion criteria: <Cohort A> (1) Patients who have received Nusinersen <Cohort A and Cohort B> (1) Patients who have received Risdiplam <Cohort A, Cohort B and Cohort C> (1) Patients who have received Onasemnogene abeparvovecor other SMN2 modifiers (2) Patients who are receiving valproic acid. (3) Patients who have undergone surgery for scoliosis or hip arthrodesis within 6 months before screening or are scheduled to undergo within 18 months after screening (4) Patients who require invasive ventilation or tracheostomy (5) Patients who are judged by the investigator to have a disease other than SMA that causes functional decline in the upper limbs (6) Patients who are judged by the investigator not to be suitable for this study for any reason
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| 9-hole peg test Fatigue assessed in the 9-hole peg test | — |
Secondary
| Measure | Time frame |
|---|---|
| Box and block test, Upper limb function, ADL and QoDL etc | — |
Countries
Japan
Contacts
Public ContactTomoaki Sakaguchi
Linical Co., Ltd. Contract Medical Affairs Unit
Outcome results
None listed