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Early Career Innovators: Novel Therapies for a Rare Metabolic Disease, Cell & Gene Therapy TIN

By Alina Shrourou, on 3 June 2021

In this Cell & Gene Therapy TIN interview as part of the Early Career Innovators series, recognising the amazing translational work being done by postdoc and non-tenured researchers within the UCL Therapeutic Innovation Networks (TINs), Dr Ellie Crompton highlights her Cell & Gene Therapy TIN Pilot Data Fund awarded project, involving new therapies for rare disease Maple Syrup Urine Disease (MSUD). 

What is the title of your project and what does it involve?

My project is entitled “Development of novel therapies for Maple Syrup Urine Disease (MSUD)”. MSUD is a rare, paediatric, metabolic disease caused by mutations in three genes. When mutated, the body cannot produce a functional enzyme complex that is used to break down branched chain amino acids (BCAAs) in the liver. This leads to a build-up of these BCAAs and metabolic decompensation of the patient. In this project, we are attempting to treat the underlying disease pathology using a bioengineered novel therapy, developed at UCL, with the aim that this will lead to improved BCAA metabolism, provide neuroprotection and prolong survival.

What is the motivation behind your project/therapeutic?

Currently, MSUD patients are commonly treated with strict dietary management, or in some cases patients are offered a liver transplant to correct the underlying disease. Both of these approaches have major pitfalls. The low-protein diet needed to avoid build-up of BCAAs is often said to not be palatable and this leads to compliance issues in infants and children prescribed this diet. A lack of available donors also severely limits the possibility of liver transplant. By restoring metabolic function in MSUD patient cells, we have the potential to allow the body to produce the enzymes necessary to break down BCAAs and alleviate the need for sub-optimal diet management and transplant strategies. Furthermore, our therapy is unique because it will be relevant to all MSUD patients regardless of their specific genotype or phenotype. If successful and translated to the clinic, this has the potential to fulfil an unmet medical need.

Can you highlight any challenges have you experienced as an early career researcher in the cell and gene therapy/translational research space?

As a Research Fellow in my first post-doctoral position, I am beginning to navigate my way around the field in which I work. Before I started this post, I was unaware of the need to start generating ideas that could lead to fellowship applications at the very beginning of your post. The need to bring in funding of your own whilst only just starting your career can be daunting, especially when a majority of grant applications require you to have certain level of seniority to be eligible. There is some pressure that ECRs need to secure grant funding to progress their career, but this can be difficult when fresh out of a PhD, with one publication and no previous track record of successful grants.

Why did you want to apply to the Cell & Gene Therapy TIN Pilot Data Fund? How has it helped you?

The work proposed in this project is really exciting and is definitely worth exploring. I think there are some great advantages to the novel therapy approach we are researching, and without the TIN grant, this work may not have been possible. The TIN pilot fund has given me the opportunity to generate invaluable preliminary data that can support future, larger grants. There is the age-old dilemma of needing good preliminary data for large grant applications, but having no money to generate it. The TIN funding has allowed me to begin this process. I wanted to apply for this funding to kickstart my career in the cell and gene therapy field, allowing me to build my portfolio of work only a few months after finishing my PhD.

The Cell & Gene Therapy Therapeutic Innovation Network (TIN) are offering the opportunity to appear in a resource to showcase and promote the diversity/depth and breadth of expertise within the Cell & Gene Therapy space across UCL. Appearing here will raise your profile and visibility in the field of Cell & Gene Therapy, not only across UCL but with also with external academic and industrial partners leading to rewarding collaboration and funding opportunities.

UCL Researchers in the Cell and Gene Therapy field are advised to register their details to appear in the resource. To create your research profile for inclusion please click here to complete the online form.

How did you find the process for the TIN Pilot Data Fund? What did you learn?

Applying for the TIN Pilot Data Fund was a simple process with an application form consisting of only a couple of pages, rather than a large grant application with tens of pages. This made it feel far less intimidating. After being told I was shortlisted, the offer of a coaching session from ACCELERATE to improve the three-minute, 2-slide presentation that was requested was incredibly helpful. I learnt which elements of the project and application I should highlight, and which to prepare answers to questions, but not immediately bring up. The coach was very helpful and really useful experience for my career.

Learn more and sign up for ACCELERATE Potential, an online, self-paced translational training programme outlining key elements of Translational Research – NOW OPEN 

What do you hope to achieve in the 6 months duration of your project?

Within the 6-month duration of this project I hope to generate preliminary data that can elucidate whether a broadly applicable pan-genotype approach is more beneficial, and whether novel therapy is better than other therapies currently under development. The progress of my project has been slowed considerably due to Covid-19 and the challenges this has produced, but I am hopeful that we can generate a good package of data at the end, even if it is not entirely the same as that which was proposed.

About Dr Ellie Crompton

Ellie Crompton headshot

Dr Ellie Crompton is a Research Fellow within the Maternal and Fetal Medicine department at the EGA Institute for Women’s Health. After having completed her PhD at Royal Holloway, University of London, Ellie joined UCL in August 2020.

Her current research aims to use gene therapy and gene editing techniques in a range of paediatric diseases with the goal to develop potential new therapeutic approaches.

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