The IMD Research team faced a number of challenges due to COVID-19 but trials have continued.
Patient-centric approaches to support research study patients and maintain safety have been implemented. For example, drug trial patients have been transferred to home care, which allows patients to continue receiving study treatments whilst their safety and wellbeing is still monitored.
We are exploring how to consent potential patients remotely for patients on registry studies.
Inherited metabolic diseases (IMDs) are caused by genetic changes that result in normal cell activity being reduced or stopped. IMDs are rare, often life-limiting, affect multiple organs and usually get progressively worse.
IMDs affect a small number of patients. Some disorders only have a handful of patients across the UK or the rest of the world. This means limited knowledge is available for some disorders which can reduce the chances of an effective treatment being developed.
Working as part of the wider IMD service at University Hospitals Birmingham NHS Foundation Trust (UHB), the Research team setup and run various clinical trials for IMD disorders.
The team consists of:
- IMD consultants
- research nurses
- research coordinators
- research data officers
- research fellows
- specialist dieticians
- clinical psychologists
- specialist pharmacists
The IMD Research team aims to generate new knowledge and support the development of new treatments by bringing together shared experiences in rare diseases and clinical research to improve IMD patient outcomes.
The team works with a range of research groups, from international pharmaceutical companies to local researchers based at universities and patient support groups.
The UHB team leads a number of studies, some of which collaborate with colleagues across the UK, Europe and the rest of the world. The team develops many studies in direct response to the needs of IMD patients at UHB.
Common conditions and trial topics
The IMD Research team continually leads pioneering trials and recruited the first patients in the world to two gene therapy trials for phenylketonuria (PKU) and ornithine transcarbamylase (OTC). The trials aim to address genetic problems by adding a normal copy of a defective gene to a person’s body with the hope that cells can use the information from the normal gene to reduce or eliminate the negative effects of the defective gene.
Working with other organisations and pharmaceutical companies, the team setup clinical trials and identify potentially suitable patients in the following disorders:
- Carbohydrate metabolism
- Amino acid and fat metabolism
- Lysosomal storage
- Organic acidemias
- Urea cycle
- Lipid metabolism
Research studies run by the team include:
- drug trials from phase I – III
- gene therapy trials (including first in man trials)
- registry studies
- observational trials
- basic science studies
Team leads: Vishy Veeranna, Heather Small and Shaun Bolton.
Last reviewed: 27 April 2021