Neuren Media and Analyst Coverage, page-1778

Neuren derives its PMS population estimate from the Phelan McDermid Syndrome Foundation.

PMSF estimates the prevalence of PMS to be 1% of people with autism, based on the fact that ~1% of autism patients have SHANK3 mutations. It also expresses the prevalence as 1/8,000 to 1/15,000 males and females.

Neuren’s 17,000 – 32,000 estimate for the US PMS population uses UN population data from 2022, and then applies the estimated prevalence range for PMSF to the population under 60 years.

Jaguar Gene Therapy, which is developing a gene therapy for PMS, states that there are ~46,000 individuals in the U.S. with autism due to SHANK3 haploinsufficiency and those diagnosed with Phelan-McDermid syndrome. It says that genetic sequencing studies indicate that SHANK3 mutations may be present in approximately 0.5%-0.69% of patients with ASD, equating to around 46,000 patients in the U.S., including approximately 10,000 paediatric patients under the age of 18.

Jaguar Gene Therapy is conducting its clinical trial in SHANK3 haploinsufficiency in ASD and Phelan-McDermid syndrome.

For inclusion in the Jaguar trial, a patient must have a ”molecular confirmation of a loss of function mutation in SHANK3 or a 22q13.3 deletion classified as a Class I deletion” and have “an overall Phelan-McDermid Syndrome (PMS)-specific Clinical Global Impression-Severity (CGI-S) Score of 3 or greater at Screening.”

In comparison, patients in Neuren’s Phase 2 PMS trial required a “clinical diagnosis of PMS with a documented disease-causing genetic abnormality of SHANK3” and have a “Clinical Global Impression - Severity (CGI-S) score of 4 or greater at the Screening visit.”

Shenzhen Reborngene Therapeutics Co., Ltd., a Chinese company which is also developing a gene therapy for PMS, cites a PMS prevalence of 1/15,000, which would be equivalent to ~ 23,000 individuals with PMS in the US.

PYC Therapeutics, which is developing an antisense therapy for PMS, has estimated an addressable western world PMS population of ~28,000, based on three different sources.