Outcome measures in SMA patients treated with Risdiplam.

Prior treatment

• Participants eligible for this Trial must not meet any of the following criteria: 1) Any disorder, which in the Investigator’s opinion might jeopardise the participant’s safety or compliance with the protocol; 2) Female who is pregnant, breast-feeding or intends to become pregnant or is of child-bearing potential and not using an adequate, highly effective contraceptive. A woman is considered of childbearing potential (WOCBP), i.e. fertile, following menarche and until becoming post-menopausal unless permanently sterile. Permanent sterilisation methods include hysterectomy, bilateral salpingectomy and bilateral oophorectomy. A postmenopausal state is defined as no menses for 12 months without an alternative medical cause. Exclusion criterion is a male participant who is sexually active with a woman of childbearing potential and who has not had a vasectomy and does not agree to use a barrier method of birth control (e.g. a condom) during the study until at least 4 months after the last dose of Risdiplam; 3) Participation in an interventional Trial with an investigational medicinal product (IMP) or device; 4) Patients younger than 18 years of age at the time of the study; 5) Patients without genetically confirmed diagnosis of 5q-SMA at the time of the study; 6) SMA patients not eligible for treatment with Risdiplam according to the RIZIV reimbursement criteria for Risdiplam (Evrysdi®) in Belgium; 7) Patients treated with Risdiplam (Evrysdi®) in a Compassionate Use Programme (CUP) at the time of inclusion; 8) Patients treated with nusinersen (Spinraza®) before or at the time of inclusion.

• Participants eligible for inclusion in this Trial must meet all of the following criteria: 1) Voluntary written informed consent of the participant or their legally authorized representative has been obtained prior to any screening procedures; 2) Use of highly effective methods of birth control; Highly effective contraceptives are methods that can achieve a failure rate of less than 1% per year when used consistently and correctly. Such methods include: • combined (estrogen and progestogen containing) hormonal contraception associated with inhibition of ovulation (oral, intravaginal, transdermal); • progestogen-only hormonal contraception associated with inhibition of ovulation (oral, injectable, implantable); • intrauterine device (IUD); • intrauterine hormone-releasing system ( IUS); • bilateral tubal occlusion; • vasectomised partner; • sexual abstinence. A male participant who is sexually active with a woman of childbearing potential and who has not had a vasectomy must agree to use a barrier method of birth control (eg, either a condom [with spermicidal foam/gel/film/cream/suppository or a partner with an occlusive cap [diaphragm or cervical/vault caps] plus spermicidal foam/gel/film/cream/suppository), during the study and for at least 4 months after receiving the last administration of Risdiplam. The time period during which highly effective contraception is required after the last dose of Risdiplam is 1 month for female patients of childbearing potential and 4 months for male patients. Male participants will be informed that they may consider sperm preservation prior to treatment initiation; 3) Male or female patients of an adult age (i.e., 18 years or older); 4) Confirmed genetic diagnosis of 5q-autosomal recessive Spinal Muscular Atrophy (SMA) (i.e., deletions of both SMN1-genes or mutations in both SMN1- genes have been genetically proven); 5) Patients eligible for treatment with Risdiplam (Evrysdi®) (i.e., SMA type 2 or 3 or patients with up to 4 SMN2-gene copies and no permanent invasive ventilation, corresponding to the RIZIV reimbursement criteria for Evrysdi® (Risdiplam) in Belgium) ), that are either treatment-naive or are already being treated with Evrysdi® (Risdiplam) in Standard-Of-Care.