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A Study Evaluating the Effectiveness and Safety of Risdiplam Administered in Pediatric Patients With Spinal Muscular Atrophy Who Experienced a Plateau or Decline in Function After Gene Therapy
Bu Faz 4 (Phase 4) çalışma, daha önce onasemnogene abeparvovec gen tedavisi almış ve sonrasında işlevlerinde duraklama ya da gerileme görülen, 2 kopya SMN2 taşıyan spinal musküler atrofili (spinal muscular atrophy, SMA) çocuklarda Risdiplam (RO7034067) tedavisinin etkililiğini ve güvenliliğini inceliyor. Çalışma açık etiketli (open-label), tek kollu ve çok merkezlidir. Katılımcılar, 5q otozomal resesif SMA tanısı genetik olarak doğrulanmış (SMN1 geninde homozigot delesyon veya işlev kaybı öngören bileşik heterozigotluk), onam anında 2 yaşından küçük çocuklardır.
Yukarıdaki özet, resmî kaydın sade dile aktarılmış halidir. Orijinal İngilizce başlık referans için gösterilir.
Kriterler ClinicalTrials.gov kaydından orijinal İngilizce haliyle alınmıştır. Uygunluk kararını yalnızca deneyi yürüten ekip verebilir.
Inclusion Criteria: * \<2 years of age at the time of informed consent * Confirmed diagnosis of 5q-autosomal recessive SMA, including genetic confirmation of homozygous deletion or compound heterozygosity predictive of loss of function of the Survival of Motor Neuron 1 (SMN1) gene * Confirmed presence of two SMN2 gene copies as documented through laboratory testing * Administration of onasemnogene abeparvovec pre-symptomatically or post-symptomatically * Has received onasemnogene abeparvovec for SMA no less than 13 weeks prior to enrollment * If treated with risdiplam prior to onasemnogene abeparvovec, risdiplam treatment must not have exceeded 3 weeks and must be discontinued 1 day prior to onasemnogene abeparvovec administration. * In the opinion of the investigator, has demonstrated a plateau or decline in function post-gene therapy (with a duration of 26 weeks or less) documented by 2 individual time points in the functions as follows: swallowing AND one additional function/ability (respiratory, motor function, other) per appropriate expectation. Exclusion Criteria: * Previous or current enrolment in investigational study prior to initiation of study treatment * Any unresolved standard-of-care laboratory abnormalities per the onasemnogene abeparvovec prescribing information * Concomitant or previous administration of an SMN2-targeting antisense oligonucleotide * Concomitant or previous use of an anti-myostatin agent * Participants requiring invasive ventilation or tracheostomy * Presence of feeding tube and an OrSAT score of 0 * Hospitalization for pulmonary event within the last 2 months, or any planned hospitalization at the time of screening * Any major illness requiring hospitalization within 1 month before the screening examination or any febrile illness within 1 week prior to screening and up to first dose administration.