According to a story from sectorpublishingintelligence.co.uk, the clinical stage pharmaceutical company Retrotope recently announced that the first patient had been dosed in its Phase 2/3 clinical trial. The trial will test the company’s investigational drug candidate RT001 as a treatment for infanitile neuroaxonal dystrophy, an incredibly rare neurodegenerative disease. The clinical trial will include 15-20 patients with the disease.
About Infantile Neuroaxonal Dystrophy
Infantile neuroaxonal dystrophy is a genetic disorder characterized by progressive neurodegeneration which begins to appear early in life. It is classified as a lipid storage disorder. The disease is linked to mutations of the PLA2G6 gene. This gene is important for the metabolizing of phospholipids, a vital process for normal body function. Symptoms of infantile neuroaxonal dystrophy include muscle wasting, regression of early developmental skills, dystonia, seizures, dementia, vision impairment, and wasting syndrome. There is a broad range as to when symptoms can first appear, from as early as 18 months to as late as six years of age. Patients eventually lose the ability to move or interact with the world around them. There is a dire need for disease modifying treatments; currently, management is only symptomatic. The disorder is ultimately fatal. To learn more about infantile neuroaxonal dystrophy, click here.
Treating Infantile Neuroaxonal Dystrophy
RT001 is designed to protect against damage from free radicals. Free radicals are a major cause of cell death in neurodegenerative diseases like infantile neuroaxonal dystrophy. Based on existing data, RT001 has already been granted Orphan Drug designation as a treatment for PLA2G6-associated neurodegeneration, which includes this disorder. Clinical trial sites are currently in the process of enrolling more patients for the study, who are expected to range between the ages of 18 months and 10 years.
Evidence so far suggests that RT001 has the potential to slow the progression of infantile neuroaxonal dystrophy considerably. As of right now, there is little hope for patients who have this disease; their families are forced to due little more than look on as they suffer from the symptoms and regress. Hopefully, the results of these trials will allow these families to feel less powerless and have greater optimism for the future.
