The Neuropathy Research Group at Kids Neuroscience Centre comprises clinician-researchers and scientists aiming to improve the lives of children with Charcot-Marie-Tooth disease (CMT) by identifying validated scales to measure the disability caused by CMT, effective rehabilitative measures including exercise and orthoses, novel genetic causes of CMT, and disease-modifying therapies through clinical trials.
CMT, otherwise referred to as an inherited peripheral neuropathy, is a common genetic disorder of the motor and sensory nerves. Symptoms first occur in childhood, and nerve degeneration results in weakness of the muscles of the hands and feet and loss of sensation.
While there is currently no curative therapy for CMT, a number of promising compounds have been identified and human trials are either underway or slated to begin.
At The Children’s Hospital at Westmead, children with CMT are evaluated at the Peripheral Neuropathy Management Clinic (PNMC) which includes neurologists, allied health professionals, orthopaedic surgeons, rehabilitation paediatricians and research staff who are experts in CMT.
The Engineering Prototypes and Implants for Children (EPIC) Lab uses advanced 3D technologies to innovate and develop medical devices for children. The EPIC Lab is headed by Prof David Little (paediatric orthopaedic surgeon) and Prof Joshua Burns, with Dr Tegan Cheng (biomedical engineer and medical scientist) as Group Leader. The EPIC lab team includes surgeons, doctors, engineers, biomedical scientists and allied health professionals united by the mission to address gaps in children’s healthcare. The EPIC Lab has two key research programs: designing orthopaedic implants and optimising 3D printed orthotic devices (Printhotics).
Printhotics aims to advance the design and delivery of ankle-foot orthoses (AFOs) to improve the health and mobility of children with disabilities. In addition to our two core research programs, we also investigate other ways that 3D printing can improve children’s healthcare, including developing 3D educational tools, simulation task trainers and 3D printed pre-operative visualisation models.
The CMT Paediatric Scale, developed by Prof Joshua Burns, is now the worldwide standard for measuring disease progression in the clinic and clinical trials in children with Charcot-Marie-Tooth disease.