The AADC Research Trust has been raising money to fund medical research into AADC Deficiency for nearly 10 years. The Trust only funds research that is aimed at improving the treatment, diagnosis and understanding of AADC deficiency. The research that we fund can be divided into three different categories, although these often overlap and feed into one another:
Basic Research: This is scientific research usually performed in the laboratory. Studying a human disease is very complex and it is often of great benefit to investigate the disease in a simplified model. For example examining the AADC protein in isolation or testing individual cells from patients. These simple models can be used to discover more about the disease and to test new treatment ideas in a safe manner.
Current Basic Research projects into AADC deficiency:
This project aims to take AADC patient skin cells and convert them into nerve cells. This will create a very powerful model of AADC deficiency:
This study is looking at individual AADC proteins, each with a different mutation that causes AADC deficiency. This can be used to help understand some of the differences between patient severity and response to treatment:
Clinical Research: This type of research aims to directly investigate patients with AADC deficiency. This could for example involve reviewing medical records or performing clinical assessments or analysing patient blood samples. Patients and their families will always be asked for informed consent before being put forward to take part in any clinical research.
Current Clinical Research projects into AADC deficiency:
This project aims to collect clinical data on patients with AADC deficiency to create a database of patients. The aim is to use this information to generate a set of guidelines to aid clinicians in the diagnosis, care and treatment of AADC deficiency:
Clinical Trials: This is a special type of clinical research where new potential treatments are tested in human subjects, either healthy individuals or people with AADC Deficiency. This type of research is aimed at demonstrating the safety and effectiveness of a new treatment. This type of research follows strict regulatory guidelines and patients and their families will always be asked for informed consent before taking part in a clinical trial.
Current Clinical Trials into AADC deficiency:
This clinical trial aims to test gene therapy as a treatment for AADC deficiency. This trial aims to recruit twelve patients to test the safety and effectiveness of this new surgical procedure: