SMA Spinal muscular atrophy SMA
Conditions
Interventions
Evrysdi® (risdiplam), 0,75 mg/ml powder for solution or 5 mg film-coated tablets, orally administrated at a daily dose based on age and body weight. The risdiplam oral solution and tablets can be used
25 years of age at the time of treatment initiation with genetically confirmed 5q SMA Type 1, Type 2, or Type 3, or with one to four SMN2 copies, according to label, who fulfil the selection criteria
Sponsors
Universitair Medisch Centrum Utrecht
Eligibility
Age
18 Years to 64 Years
Inclusion criteria
Inclusion criteria: Diagnosed with genetically confirmed 5q SMA Type 1, Type 2, or Type 3, or with one to four SMN2 copies, according to label.Signed informed consent form (ICF).Age > 25 years at treatment initiation.Ability to comply with the study protocol, in the Investigator's judgment. Follow-up assessment intervals between 6 and 10 months are acceptable.Patients pre-treated with nusinersen can be included at least 2 months after the last dose of nusinersen.
Exclusion criteria
Exclusion criteria: Patients not receiving treatment for SMA with risdiplam in line with the current summary of product characteristics (SPC)/local labeling: off-label use.Hypersensitivity to the active substance or to any of the excipients of risdiplam.Not willing to adhere to the study protocol.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| The primary objective of the study is to evaluate motor function changes during treatment with risdiplam as a measure of disease progression in Dutch patients with genetically confirmed SMA who were > 25 years of age at the time of treatment initiation. In line with the state of disease progression of patients > 25 years of age, the primary outcome measure is the Revised Upper Limb Module (RULM). | — |
Secondary
| Measure | Time frame |
|---|---|
| Secondary endpoints will measure the effect of risdiplam on daily functioning with additional motor scales, Quality of life (QoL), bulbar function, safety and tolerability. Motor function will be additionally evaluated using the Adapted Test for Neuromuscular Disorders (ATEND) and for patients in the statistical ceiling effect of the RULM the Hammersmith Functional Motor Scale Expanded (HFMSE). Self-reported health related QoL will be measured using the complementary questionnaires EuroQol-5 Dimension (EQ-5D) and the 36-Item Short Form Health Survey (SF-36). Bulbar function will be measured with the Logopedische Inventarisatie Neuromusculaire Aandoeningen - kinderen questionnaire (LINMA-K), communication questionnaires and appropriate bulbar function tests (i.e. the test of mastication and swallowing solids (TOMASS), Timed test Swallowing, dysphagia limit test and maximum mouth opening). Respiratory function will be measured with the forced vital capacity (FVC), maximum inspiratory pressure (MIP) and maximal expiratory pressure (MEP). Besides that, the number of patients that switch from nusinersen to risdiplam will be measured, including the reason for switching. After baseline measurements and the start of treatment with risdiplam, follow-up measurements will be performed every 8 months, according to the scheme that is used for the current ex-CUP patients (> 25 years of age). After 4 - 5,5 years of treatment, the data set will consist of baseline and a minimum of six follow-up measurements. We will also document patients who switch from nusinersen to risdiplam and vice versa, including the motivation for switching. | — |
Countries
Netherlands
Contacts
Public ContactSMA researchteam -
Universitair Medisch Centrum Utrecht
Outcome results
None listed