According to a story from pm360online.com, the pharmaceutical company Roche recently announced that its investigational therapy risdiplam has awarded PRIME designation from the European Medicines Agency (EMA). The drug has earned this designation for the treatment of spinal muscular atrophy, a rare genetic disease. The designation is based on encouraging data which suggests that risdiplam could be an effective treatment for multiple forms of the disorder.
About Spinal Muscular Atrophy
Spinal muscular atrophy is a type of neuromuscular disorder in which the motor neurons are destroyed, leading to muscle wasting. In many cases, the disease is lethal. This disorder is linked to genetic defects of the SMN1 gene. This gene encodes a protein called SMN, and when not present in certain amounts, neurons are unable to function. There are different kinds of spinal muscular atrophy that are categorized by when symptoms first appear. These symptoms may include loss of reflexes, muscle weakness and poor muscle tone, problems with feeding and swallowing, developmental delays, respiratory muscle weakness, tongue twitching, and a bell shaped torso. There are a variety of management strategies for spinal muscular atrophy, but it is still usually fatal in its most severe forms. To learn more about spinal muscular atrophy, click here.
About PRIME Designation
PRIME (PRIority MEdicines) designation is a scheme implemented by the EMA which is meant to encourage the development of therapies that address serious medical conditions or that fulfill a medical need that is not being met by current therapeutic options. The designation also confers several benefits to the recipient, such as closer collaboration with the agency, and possible eligibility for accelerated assessment and other benefits that could speed up the pace of development and approval.
Prior clinical trial data has indicated that risdiplam could be an effective therapy for spinal muscular atrophy types 1, 2, and 3. The drug was developed in response to research findings related to spinal muscular atrophy which indicate that the disorder affects many different body systems. The mechanism of the disease involves the loss of the SMN protein, which has implications far beyond the nervous system. Risdiplam is classified as SMN2 gene splicing modifier. The therapy is designed to distribute SMN protein throughout the body to allow levels of the protein to remain increased for a long period of time.