Spinal Muscular Atrophy Disease Pipeline Drugs Assessment: Clinical Trails Analysis, Player Profiles, Collaborations, Key Targets, Geographic Focus, and Data Publications 2019 - 2030

Spinal Muscular Atrophy is a genetic neuromuscular disease which is characterized by muscle atrophy and weakness. This disease generally manifests in early ages and may leads to the genetic cause of death in toddlers and infants. SMA is caused due to the defects in Survival Motor Neuron 1 (SMN1) gene which encodes the SMN protein. The SMN protein plays a vital role in health and survival of nerve cells in spinal cord responsible for muscle contraction (motor neurons).

Symptoms of SMA includes weak arms and legs, movement problems, tremors, swallowing problems, difficulty in breathing, problems in joints and bones.Spinal Muscular Atrophy is diagnosed by molecular genetic testing, electromyogram, CT Scan, MRI, Muscle tissue biopsy.  Spirinza (Nusinersen) is the only FDA approved drug to treat SMA. Spirinza was approved in 2016 by U.S. FDA.

 Key developments:

• In November 2017, Catalyst Pharmaceuticals, Inc initiated phase II proof-of concept study determining the safety, efficacy and tolerability of its pipeline molecule, Firdapse (amifampridine phosphate) for the treatment of spinal muscular atrophy type 3.
• In December 2017, AveXis, Inc, initiated Phase I clinical trial of AVXS-101 for patients with spinal muscular atrophy type 2 via intrathecal route. AVXS-101 is a proprietary gene therapy candidate of a one-time treatment for SMA Types 1 and 2, designed to address the monogenic root cause of SMA and prevent further muscle degeneration by addressing the defective and/or loss of the primary SMN gene. AVXS-101 also targets motor neurons, providing rapid onset of effect and crossing the blood brain barrier to allow targeting of both central and systemic features.