Neuren Pharmaceuticals (ASX:NEU) has announced that its Phase 2 clinical trial of NNZ-2591 for Phelan-McDermid syndrome (PMS) has completed all study visits.
The company said top-line results from the trial are expected to be available in December 2023.
CEO Jon Pilcher said, “We are grateful to all the people at the trial sites in the United States and in the PMS community who have enabled this groundbreaking trial to be completed as we strive to develop a potential first therapy for PMS. We look forward to releasing next month the first results of treatment with NNZ-2591 in children with PMS.”
Neuren is also conducting Phase 2 clinical trials of NNZ-2591 in children with three other neurodevelopmental disorders – Pitt-Hopkins syndrome, Angelman syndrome and Prader-Willi syndrome.
The US FDA has granted all four programs Orphan Drug designation, and they are being developed under Investigational New Drug (IND) applications. Each syndrome is a seriously debilitating neurological disorder that emerges in early childhood and has no or limited approved treatment options.
Phelan-McDermid syndrome is caused by a deletion or other change in the 22q13 region of chromosome 22, which includes the SHANK3 gene, or a mutation of the gene. PMS is also known as 22q13 deletion syndrome. It is estimated that between 1 in 8,000 and 1 in 15,000 people have PMS. There are no medications, drugs, or therapies specifically for PMS, which has an overwhelming unmet medical need.
PMS has severe quality-of-life impacts on those living with it, as well as on parents and siblings. The most common characteristics are moderate to severe developmental and intellectual impairment and developmental delay, delayed or absent speech, symptoms of autism, low muscle tone, motor delays, mild to severe epilepsy, difficulties with toilet training and problems with eating.