Aelis Farma, a clinical-stage biopharmaceutical company focused on developing treatments for brain diseases, has presented new preclinical data on its drug candidate AEF0217 at the 2nd European Conference on Phelan-McDermid Syndrome, held from 9 to 11 June in Madrid, Spain. .
Phelan-McDermid syndrome (PMS), caused by chromosomal 22q13 deletions including the SHANK3 gene or by sequence variations in this gene, is one of the most frequently observed genetic mutations in autism. This is an orphan disease for which there is currently no treatment. In affected people, these mutations can cause developmental delays in a variety of areas, particularly speech delays, intellectual disabilities, and often autism spectrum disorders.
Pier Vincenzo Piazza, CEO of Aelis Farma and Flavio Tomasi, PhD student in the INSERM/CNRS Catalina Betancur laboratory at the Sorbonne university, gave an oral communication entitled: “Inhibition of cannabinoid CB1 receptors rescues deficits in the mouse model of Phelan-McDermid syndrome” at the conference, organized by Spanish Phelan-McDermid Syndrome Association.
The data was obtained in collaboration with several laboratories coordinated by Betancur. The results demonstrated AEF0217 could statistically significantly reverse the behavioral, cognitive and motor deficits observed in a genetic mouse model of the Phelan-McDermid syndrome. In these mice, ARF0217 also reversed neurological changes (cortical hyperactivity), which is considered a neurobiological marker of autism. Based on these results, Aelis said that currently his party would analyze the feasibility of developing AEF0217 for these indications and more generally for autism spectrum disorders.
Piazza said: “The preclinical data obtained by Dr. Betancur caused considerable excitement in the scientific community present at the meeting and prompted us to evaluate, in addition to the ongoing program in trisomy 21, the feasibility of developing AEF0217 in this new indication. . More generally, the data show that AEF0217 can also help patients with autism spectrum disorders, which will significantly expand the field of application of our second drug candidate.”
Betancur, who coordinated the study, added: “We are pleased to have the opportunity to present the results of the effect of AEF0217 in the mouse model of Phelan-McDermid Syndrome at this conference, which brings together leading international experts on this subject. rare disease for which there is no effective treatment. Our preclinical data have been very well received by scientists and families attending the conference and prompted us to push ahead with the evaluation of AEF0217 in autism spectrum disorder. We are excited to be participating in the development of potential new treatments for patient populations in dire need.”
AEF0217 is the second drug candidate developed by Aelis Farma. It belongs to a new generation of drugs discovered by the company, specific inhibitors of CB1 receptor signaling of the endocannabinoid system (CB1-SSi). CB1 is one of the most highly expressed neurotransmitter receptors in the brain that is implicated in many diseases. AEF0217 is currently under development for the treatment of cognitive impairment in people with Down syndrome (trisomy 21) and is being evaluated in a phase 1/2 study in this population.
About Phelan-McDermid Syndrome
Phelan-McDermid Syndrome (PMS) is one of the most common genetic causes of autism spectrum disorder. It is an orphan disease resulting from loss of genetic material at the terminal end of chromosome 22 (22q13 deletion) or from a mutation in the SHANK3 gene.
The genetic characteristics of the affected person are the absence or mutation of the SHANK3 gene. Absent or mutated copies of this gene result in developmental delays in general, and in particular speech delays or absences, intellectual disabilities, autism spectrum disorders, and motor skill deficits. Some affected people may also have epilepsy. These mutations generally occur spontaneously and are not hereditary.
Aelis Farma is one of the companies featured in our latest look at the progress in Down syndrome research over the past year.