Framsteg i behandlingen av spinal muskelatrofi – nya fenotypen, nya utmaningar, nya implikationer för vårdsystem

Jag delar gärna en underbar ny artikel från kollegorna från Freiburg / Tyskland som gör så mycket framsteg i SMA forskning

  • The SMA landscape has changed considerably since the first reports more than a century ago of patients with spinal muscular atrophy (SMA) by Werdnig and Hofmann in 1891 [1] and 1893 [2]. Decoding the disease’s genetic background, first in linkage analyses [3, 4] and later by identifying mutations in SMN1 as disease-causing [5], paved the way for targeted medical approaches. In this review we provide an overview of both the latest therapeutic options and emerging therapies for SMA

TOPAZ clinical trial of SRK-015 in Type 2 and Typ 3 of Spinal Muscular Atrophy

Scholar Rock Announces the Phase 2 clinical trial of SRK-015 in TOPAZ study .

TOPAZ Phase 2 Trial Design

The Phase 2 proof-of-concept trial will evaluate the safety and efficacy of SRK-015 dosed intravenously every four weeks (Q4W) over a 12-month treatment period. The trial is anticipated to enroll approximately 55 patients with Type 2 or Type 3 SMA in the U.S., Canada, and Europe across three distinct and parallel cohorts.

Clinical Trials
NCT03921528