Spinal Muscular Atrophy (SMA) is an autosomal recessive disorder characterized by loss of motorneurons in the spinal cord leading to progressive muscle atrophy and weakness. The disorder is caused by a homozygous deletion of the SMN1 gene resulting in deficiency of the SMN (survival of motor neuron) protein. Patients with the most severe form of the disease, type I SMA, present between 0 and 6 months with hypotonia and muscle weakness. If untreated, they develop respiratory and swallowing problems and most children die before the age of 2 years. Patients with type 2 SMA present between 6 and 18 months. They do achieve independent sitting, but never obtain the ability to walk and suffer from severe respiratory and orthopaedic complications. Type 3 SMA patients present later, after 18 months. These patients can walk, but they lose ambulation later on in life.
A Study to Investigate Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Efficacy of Risdiplam in Patients with Spinal Muscular Atrophy (F. Hoffmann-La Roche Ltd)
Principal Investigator: Prof. Liesbeth De Waele
Sunfish: A Two-part Seamless, Multi-center, Randomized, Placebo-Controlled, Double-Blind Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics, and Efficacy of RO7034067 in Type 2 and 3 Spinal Muscular Atrophy Patients.
Jewelfish: An Open-Label Study to Investigate the Safety, Tolerability, and Pharmacokinetics/Pharmacodynamics of RO7034067 in Adult and Pediatric Patients With Spinal Muscular Atrophy.
A study to evaluate the safety, tolerability and efficacy of gene replacement therapy with intravenous OAV101 (AVXS-101) in pediatric patients with spinal muscular atrophy (SMA) (Novartis)
Principal Investigator: Prof. Liesbeth De Waele
COAV101A12306 - SMART: A Phase IIIb, open-label, single-arm, multicenter study to evaluate the safety, tolerability and efficacy of gene replacement therapy with intravenous OAV101 (AVXS-101) in pediatric patients with spinal muscular atrophy (SMA)