Science & Technology, New Zealand (Commonwealth Union) – Rett syndrome is a rare genetic neurological disorder that primarily affects females, is caused by mutations in the MECP2 gene on the X chromosome. The condition is usually characterized by symptoms like loss of speech and motor skills, hand-wringing or clasping, repetitive hand movements, along with difficulty in coordination and balance. Other symptoms may include breathing irregularities, seizures, scoliosis, and intellectual disability.
The treatment for Rett syndrome usually helps manage the symptoms to the improve quality of life. Treatment presently may include medications to control seizures and other symptoms, physical therapy to improve motor skills and coordination, as well as communication therapy to help with speech and language difficulties.
Distinguished Professor Dame Margaret Brimble a scientist from the University of Auckland has received approval by the American Food and Drug Administration this month to treat Rett syndrome for a neurological drug she discovered. The molecule discovered by Dame Margaret was the foundation for the breakthrough neurological drug that was approved.
Over 20 years following the molecules discovery, Trofinetide, which is set to be distributed as Daybue, is the 1st drug to treat Rett syndrome and also the 1st neurological drug discovered in New Zealand that received FDA approval.
“I’m over the moon for all of the families who need the drug,” said Dame Margaret, Director of Medicinal Chemistry at Waipapa Taumata Rau, University of Auckland. “It’s a horrible disease, and finally there’s a treatment. We’ve waited so long for this, it’s a great day.”
The effects of Rett syndrome, on motor control and communication skills stagnating or regression usually occur after the 1st 6 to 18 months in the life of a child with the condition. Researchers indicated that positive results in clinical trials had noted the participants walking or talking for the 1st time.
Children with Rett syndrome, usually have the MECP2 gene mutations block the formation of a molecule that is crucial for cognitive and motor function, where Trofinetide is the synthetic version of the molecule.
A key feature of Rett syndrome is continuous repetitive hand movements and other conditions can include mild to severe, as indicated by the International Rett Syndrome Foundation.
The compound NNZ-2566, that was labeled Trofinetide by the World Health Organisation, was found in 2002 when Dame Margaret along with 3 early-career chemists were exploring possible chemical candidates for the treatment of traumatic brain injury.
The work they were engaged in was conducted for the University of Auckland spin-out company Neuren Pharmaceuticals which included the biologists Dr Jian Guan and Professor Mike Dragunow of the Liggins Institute and Sir Peter Gluckman served as the chief scientific officer for Neuren.
The activities of Dame Margaret continued with the discoveries of Sir Peter and his team that had noted a natural peptide known as GPE contained neuroprotective properties. Following the observation of the key molecule an extensive team of biomedical scientists, business individuals, doctors and patients participated in the study to produce NNZ-2566 for medical purposes.
Trofinetide did not become an option for brain injuries treatment, however clinical trials commenced in 2012 were associated with Rett syndrome.
Neuren Pharmaceuticals, was formed with assistance from the University, research application and commercialization firm UniServices, that joined hands with Acadia Pharmaceuticals in San Diego to carry out the phase-3 trials with positive results.
A 2nd neurological drug from Dame Margaret and her team working with Dr Jian Guan, NNZ-2591, has also shown promising signs according to researchers. The NNZ-2591 received FDA approval to proceed to phase 2 clinical trials for treating Phelan-McDermid syndrome, Angelman syndrome, Pitt-Hopkins syndrome as well as Prader-Willi syndrome.
The year 2018, saw Dame Margaret become the 1st female working in New Zealand to get elected as a fellow of the Royal Society of London, which is the oldest scientific organization in the globe.
