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, which was held from June 9 to 11 in Madrid, Spain.
Phelan-McDermid syndrome (PMS), which is caused by the deletion of chromosome 22q13 including the SHANK3 gene or by a sequence variation in this gene, is one of the most frequently observed genetic mutations in autism. It is an orphan disease for which there is currently no treatment. In affected people, these mutations can lead to development delays in multiple areas, in particular delayed speech, intellectual disability and often autism spectrum disorder.
Pier Vincenzo Piazza, CEO of Aelis Farma and Flavio Tomasi, PhD student in Catalina Betancur’s INSERM/CNRS laboratory at the Sorbonne university, gave an oral communication entitled: “Inhibition of the cannabinoid CB1 receptor rescues deficits in a mouse model of Phelan-McDermid syndrome” at the conference, which is organized by the Spanish Phelan-McDermid Syndrome Association.
The data was obtained within the context of a collaboration between several laboratories coordinated by Betancur. The results showed AEF0217 can statistically significantly reverse behavioral, cognitive and motor deficits observed in a genetic mouse model of Phelan-McDermid syndrome. In these mice, ARF0217 also reversed a neurological alteration (cortical hyperactivity), considered as a neurobiological marker of autism. Based on these results, Aelis said it will now analyze the feasibility of developing AEF0217 in this indication and more generally in autism spectrum disorder.
Piazza said: “The preclinical data obtained by Dr. Betancur’s group have generated considerable excitement in the scientific community present at the meeting and encourage 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 suggest that AEF0217 could also help patients with autism spectrum disorder, which would significantly expand the fields of application of our second drug candidate”.
Betancur, who coordinated the studies, added: “We are delighted to have had the opportunity to present the results of the effects of AEF0217 on a mouse model of Phelan-McDermid Syndrome at this conference, which brings together the most prominent international experts in this rare disease for which there is no effective treatment. Our preclinical data have been very favorably received by scientists and families attending the conference and encourage us to push forward the evaluation of AEF0217 in autism spectrum disorder. We are delighted to be participating in the development of a potential new treatment for a population of patients 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, signaling-specific inhibitors of the CB1 receptor of the endocannabinoid system (CB1-SSi). CB1 is one of the most expressed neurotransmitter receptors in the brain implicated in many diseases. AEF0217 is currently being developed for the treatment of cognitive disorders in people with Down syndrome (trisomy 21) and evaluated in a phase 1/2 study in this population.
About Phelan-McDermid Syndrome
Phelan-McDermid Syndrome (PMS) is one of the most frequent genetic causes of autism spectrum disorder. It is an orphan disease resulting from the loss of genetic material at the terminal end of chromosome 22 (22q13 deletion) or from a mutation in the SHANK3 gene.
The genetic characteristic that affected people have in common is the absence or the mutation of the SHANK3 gene. The absence or the mutation of a copy of this gene results in a general developmental delay, and in particular in a delayed or absent speech, intellectual disability, autism spectrum disorder and motor skill deficits. Some affected people may also suffer from epilepsy. This mutation generally occurs spontaneously and it is not hereditary.
Aelis Farma was one of the companies featured in our recent look at advancements in Down syndrome research over the past year.