November 2020
rAAVrh74.MHCK7.micro-dystrophin for Duchenne muscular dystrophy
rAAVrh74.MHCK7.micro-dystrophin is a medicinal product in clinical development for the treatment of children aged 3 months to 7 years with Duchenne muscular dystrophy (DMD). DMD is a rare progressive neuromuscular disorder caused by a gene mutation (change). DMD is caused by an absence of dystrophin, a protein that helps keep muscle cells intact. It affects …
November 2020
Tideglusib for congenital myotonic dystrophy
Tideglusib is being development for the treatment of congenital myotonic dystrophy type 1 (CMD1). CMD1 is a form of myotonic dystrophy type 1 (DM1), a rare, genetically determined neuromuscular disorder. CMD1 begins at or around the time of birth and is characterised by severe muscle weakness, cognitive impairment and other developmental abnormalities. The condition usually occurs when the mother already has DM1 and then it is passed on to her child in a more severe form. CMD1 is typically associated with significant medical morbidity and early death. No specific treatment is currently on offer, although supportive care to manage symptoms is available.
August 2020
Edasalonexent for Duchene muscular dystrophy
Edasalonexent is currently in clinical development for the treatment of male paediatric patients with duchenne muscular dystrophy (DMD). DMD is a rare genetic condition caused by a mistake or abnormality in a gene called dystrophin, located on the X chromosome (one of the two sex chromosomes). Chromosomes are tiny structures inside cells made from deoxyribonucleic acid (DNA) and proteins. Males have one X chromosome, while females have two X chromosomes. As males have one X chromosome, DMD is much more common in males. DMD is fatal condition with no cure. It causes progressive muscle weakness and often leads to loss of walking ability by the age of twelve, as well as problems with the heart and lungs. Current treatment options only target a particular mistake or abnormality and focus on slowing progression of the disease.
May 2020
Vosoritide for achondroplasia
Vosoritide is in clinical development for the treatment of achondroplasia. Achondroplasia represents the most common form of short-limb dwarfism, a condition where the bones in the arms and legs do not form properly and are shorter than normal. Patients with achondroplasia have a short stature, an enlarged head with a prominent forehead, bowed legs, ear problems, respiratory issues, compression of the spinal cord, as well as short fingers, toes, lower legs and upper arms. No pharmacologic therapies have been approved for achondroplasia in the EU.
