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

Novartis announces: Recruitment of the first ongoing clinical trial of Branaplam to treat spinal muscular atrophy is now closed

Already a few weeks ago.  Liz reported internally here.

The recruitment of the first onging clinical trial to Branaplam  in spinal muscular atrophy is now closed – Novartis has officially announced this.

It took 4.5 years to recruitment 44 babies with SMA type 1 in its first clinical trial of LMI070 (Branaplam), a breakthrough oral molecule designed to treat spinal muscular atrophy (SMA).

Branaplam is a small molecule like Roche’s Risdiplam and it  works by modifying the SMN2 gene to produce a lot of functional SMN protein. It can be taken orally, is it a syrup. Risdiplam, it is only taken once a week.

Despite the encouraging effects of 13 babies who joined in 2015, develop the study slowly. Novartis stopped and continued the study several times.
In the year 2017 Novartis found a new team of researchers who further developed Branaplam. New trial sites in Eastern Europe were opened and recruitment.

Novartis Pipline
Novartis is currently the only pharmaceutical company, which have two experimental drugs to treat SMA in the pipeline

AVXS‐101 by AveXis, Novartis


Clinical Trials
Branaplam- NCT02268552


The study continues in Germany, but it is closed.
University Hospital Freiburg