The John Walton Muscular Dystrophy Research Centre is currently running 25 studies in neuromuscular diseases. These include natural history studies, phase 2 and phase 3 studies with investigational drugs, in paediatric and adult neuromuscular diseases. 12 of these studies are designed for patients with Duchenne muscular dystrophy.
I am currently Principal Investigator for 5 clinical trials in Duchenne muscular dystrophy and two clinical trials in other neuromuscular conditions (FSHD and BMD). I am co- or sub-investigator for other 4 clinical trials in DMD and 4 clinical trials in other neuromuscular disease (SMA, Dysferlinopathies).
The post has allowed me to focus on the delivery of clinical trials; I have been able to continue my activity as PI and sub-investigator for the running study and to take on a more senior role as PI and CI in two additional clinical trials in DMD over the past year.
Moreover, my role has been to lead the clinical trial and clinical research team which is in continuous expansion. I overview the current research, ensure that trials are run smoothly, ensure patient Safety and data quality and provide support to the rest of the team for any medical queries and issues as well as good clinical practice advice to ensure delivery of high quality research.
As a team, we have an outstanding record for recruitment and retention. This year I have been recognised by NIHR as a leading investigator in the UK, having recruited the first patient across EU in a commercial clinical trial.
The clinical trial team at the JWMDRC currently includes 4 clinicians, 4 physiotherapists, 3 clinical trial coordinators, 2 research nurses within the team, 3 paediatric nurses and 2 adult nurses at the clinical research facility. Moreover, thanks to my position and the support from the charities, we are currently advertising for three positions (a clinical fellowship, a physiotherapist and a paediatric nurse) who will significantly impact our trial capacity.
I have been one of the two Duchenne clinical expert in the evaluation of a new investigational drug (Translarna) by NICE. I was also nominated DMD clinical expert for the NICE scope meeting for the evaluation of another investigational drug in DMD (antisense oligonucleotides).
My experience and clinical trial activity has been recognised by pharmaceutical companies working in the field. I am a member of the UK advisory board for PTC and Eteplirsen and I have been contacted by other three pharmaceutical companies willing to develop their drug in DMD and other neuromuscular disease including a gene therapy approach.
These relationships will ensure continue expansion of clinical trial participation by the JWMDRC.
I continue my role of Chief Medical coordinator for the FOR DD study (Find the optimum corticosteroid regime for Duchenne muscular dystrophy). Moreover, in view of my primary role in developing and implement research in DMD, I was one of the co-applicants for the H2020 grant for the development of vamorolone for DMD. We were award the H2020 grant and I am currently the study chair for a large (100 patients, 30 sites across 10-15 countries in EU, Australia and Israel) phase 2b study which will be an essential component, and hopefully pre-marketing study, of the drug development programme.
This year, I have also taken the role of leader of the MRes neuromuscular module which is focus on introducing translational research in rare neuromuscular diseases to students.