The complexity of the human body never ceases to amaze me. So many systems need to work together to carry out seemingly simple tasks like walking, breathing and digesting.
This complexity means that from time to time the convoluted web of neurons, strands of DNA and woven matrices of bone can be subject to defects. 

Not always bad (although my ballet teacher constantly lamented over my “too long arms”), these ‘glitches’ produce the superior athletic prowess of Usain Bolt, Cindy Crawford’s signature mole and the savant genius of Albert Einstein. 

Angelman Syndrome (AS) is a genetic disorder where sufferers are outwardly delightful with smiley, happy and excitable personalities. The Syndrome is characterised by delayed development, problems with speech and balance, intellectual disability and sometimes, seizures. 

Commonly diagnosed in between 6 and 12 months, the Syndrome is caused by a missing or defective gene in the brain. It occurs rarely and researchers still aren’t sure exactly how it arises.
There is currently no prescribed treatment for the condition itself. Patients’ symptoms are managed as they arise. Complications of Angelman Syndrome include feeding difficulties, hyperactivity, sleep disorders, scoliosis and obesity. 

Neuren Pharmaceuticals (ASX: NEU) is approaching the Syndrome with a new tack. The Company is focussing on developing two new drug therapies for the treatment of neurological disorders that emerge in early childhood for which there is significant unmet need. 

NNZ-2591 is one asset that has now received ethics approval to enter into a Phase 2 clinical trial. 

The drug will be trialled across three sites in Australia: Queensland’s Children’s Hospital and Centre for Children’s Health Research, The Sydney Children’s Hospital and Austin Health in Victoria. 

The trial will include 20 children between the ages of 3 and 17 who will take the drug orally. Researchers will evaluate the safety, tolerability and efficacy over a 13 week treatment regime with results expected in H1 2023. 

“This is another important step achieved for the first clinical trials of NNZ-2591 in patients and Neuren’s first in Australia,” said CEO Jon Pilcher. “We are very excited to be working closely with the local Angelman syndrome community and are eager to accelerate development of this potential therapy which has shown such promise to date.”

Neuren is also progressing NNZ-2591 with Phase 3 trials for other neurodevelopmental disorders where there is no approved treatment. The Company has also applied for Investigational New Drug status from the FDA for use in Phelan-McDermid syndrome and Pitt Hopkins syndrome where the drug has applications. 

Neuren’s focus may only be on two drugs, however the Company has a well padded wallet with $36.8 million to put towards clinical projects. The Company also managed to scale back their loss after tax to $7.8 million in 2021, compared with $9.2 million in 2020 despite ramping up clinical trial planning and progression.