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.
An open-label multi-part first-in-human study of oral LMI070 in infants with Type 1 spinal muscular atrophy (Novartis)
Principal Investigator: Prof. Liesbeth De Waele
Samenvatting
In deze studie worden de doeltreffendheid en veiligheid van Branaplam (PO) bestudeerd in SMA type 1 patiënten. Dit produkt verhoogt via het gen SMN2 de expressie van het SMN eiwit dat het afsterven van motorneuronen in het ruggenmerg moet verhinderen.
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.
Samenvatting
In de Sunfish studie worden de doeltreffendheid en de veiligheid van Risdiplam (PO) bestudeerd (in vergelijking met placebo) in patiënten met SMA type 2 en 3. Dit produkt verhoogt via het gen SMN2 de expressie van het SMN eiwit dat het afsterven van motorneuronen in het ruggenmerg moet verhinderen.
In de Jewelfish studie worden de veiligheid, de tolerantie en de farmacokinetiek/dynamiek van Risdiplam (PO) bestudeerd in patiënten met SMA type 2 en 3 die voordien met een ander produkt (Branaplam, Nusinersen, Zolgensma) behandeld werden.