Spinal Muscular Atrophy (SMA)
Conditions
Interventions
Types 1-3 SMA:NA
Sponsors
Peking University First Hospital
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1. The patients have been diagnosed as any of the indications of risdiplam approved in China at the time of enrollment; 2. SMA of clinical types 1-3; 3. Patients who are administered with risdiplam according to the general clinical practicecan be included in the study if only one of the following two criteria is met: (1) "New Starts": Patients who will start the treatment with risdiplam at the time of entry into the cohort of this study; (2) "Established Users": Patients who have already started and remained on risdiplam treatment at the time of entry into the cohort of this study and have the essential retrospective data in medical record as following, the primary effectiveness endpoint calculation, SMA treatment information, key demographic and clinical characteristics at baseline; If the patient has received risdiplam treatment for more than 12 months, the outcome of motor function assessment for primary effectiveness objective and achievement of motor function milestone should be found in the medical record; If the patient has received risdiplam treatment for no more than 12 months, only baseline motor function assessment is required; The date of risdiplam initiation, treatment history before risdiplam initiation and concomitant medication treatment for SMA should be found in medical record; For the established users that have previously started with risdiplam, the time of risdiplam initiation can be as early as the time that risdiplam became commercially available in China (i.e., August 2021, the time when the physician could actually prescribe risdiplam to patients) till the start of this study; Key demographic information at baseline includes age at onset of SMA, age of risdiplam treatment initiation and gender; Key clinical characteristics at baseline include weight, physical examination on musculoskeletal system (abnormalities including, joint contracture, scoliosis, or hip dislocation), surgical history, type of SMA and motor function milestone achievement; Other information mandatory for established users includes date of death for patient who was recorded death, start date of ventilation for patients who receive permanent ventilation; 4. Both disease-modifying therapy (DMT)-naïve patients (defined as patients who has not previously used any DMT therapy) and the patients who have been switched from other DMT to risdiplam (only those who have previously been treated with nusinersen and then switched to risdiplam) are eligible to be enrolled in the study; 5. Based on the clinical practice, for patients who need combination therapy, only patients who are treated with risdiplam in combination with nusinersen can be included in this study; 6. The patients or their legal representatives understand the study procedures and sign the informed consent in writing to consent to participate in the study.
Exclusion criteria
Exclusion criteria: 1. The application of risdiplam is out of the indication, dosage and dosing range in the approved label of risdiplam in China; 2. Patients who are allergic to risdiplam or any of the ingredients in risdiplam; 3. Established users with missing essential information in the retrospective data; 4. Patients who are using or have been used onasemnogene abeparvovec-xioi or another gene therapy. Patients who receive disease-modifying therapy (DMT) other than risdiplam, nusinersen or other known SMA-targeted drugs; 5. Patients who participate in any interventional study before or after the start of the study; 6. Patients who have received risdiplam before its commercial launch in China, such as patients have received risdiplam in clinical trials or early access programs; 7. Patients in a critical conduction as assessed by the investigator/researcher, and unable to complete critical assessments required by this protocol or unable to receive at least 1 month of risdiplam treatment as judged by the investigator; 8. Patients who are expected to be unable to participate in regular follow-up assessments in routine clinical practice.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| To evaluate the effectiveness of risdiplam in Types 1-3 SMA patients in terms of motor function as assessed by:Change from baseline in the total score of Motor Function Scales; | — |
Secondary
| Measure | Time frame |
|---|---|
| Change from baseline in the total score of motor function assessment scale;Change from baseline in the total score of Motor Function Scales (CHOP INTEND, or HFMSE, which depends on the patient's current motor function, as well as the type of disease and age);Achievement of motor milestones (such as head control, independent sitting, independent standing and independent walking) assessed by HINE-2;Ratio of event-free survival and survival;Ability to swallow and feed orally;Number of hospitalizations (for any reason) per patient-year and the average length of stay per hospitalization;SMA Independence Scale scores by the patient selfassessment and by the caregiver;Treatment duration, treatment discontinuation and reason for discontinuation; | — |
Countries
China
Contacts
Public ContactHui Xiong
Peking University First Hospital
Outcome results
None listed