Tracking Progression in Friedreich’s Ataxia (FRDA) to Establish Biomarkers for Clinical Trials.
Friedreich’s ataxia (FRDA) is a devastating neurodegenerative disorder causing loss of balance leading to wheelchair dependence, visual loss, heart failure and diabetes. Clinical trials using promising disease-modifying compounds have not shown a statistically significant improvement suggesting that more reliable markers of disease progression are required. This study aims to investigate quantitative MRI measures in the brain and spinal cord, combined with high resolution imaging of the retina which will be performed over 3 time points, combined with a novel motion detection system. A clinical rating scale known as the SARA score (scale for assessment and rating of ataxia) will be performed to see if it correlates with the retinal imaging and MRI data. This will be the largest study of this kind to date and should assist in clinical trial development.
The recruitment to this study is now closed. You can read more about this study here: Multimodal Analysis of the Visual Pathways in Friedreich’s Ataxia Reveals Novel Biomarkers.
Ataxia Patients attitudes to clinical trials
The ataxias are a group of rare neurological disorders characterised by a loss of balance, coordination and speech. As we learn more about these conditions, more clinical trials aiming to test the efficacy and safety of novel therapies are being initiated. Clinical trials often struggle to recruit sufficient participants to either commence the trial or make data obtained reliable. The aim is to survey ataxia patients about trial design preferences in order to make recommendations about how we can improve trial design and thus improve recruitment, participation and the overall trial experience for participants. In this survey we will ask ataxia patients about previous trial experience, ideal length and frequency of visits during the trial, procedures they would be comfortable with, symptoms they would like to be targeted, factors which would increase participation as well as general trial design preferences. The respondents will be members of Ataxia UK and FARA patient support organisations.
The recruitment for this study is closed. You can read the results here: The attitude of patients with progressive ataxias towards clinical trials.
The 100,000 Genomes Project
The 100,000 Genomes Project is a UK Government project that is sequencing whole genomes from National Health Service patients. The project is focusing on rare diseases,
some common types of cancer, and infectious diseases. Participants give consent for their genome data to be linked to information about their medical condition and health
records. The medical and genomic data is shared with researchers, to improve knowledge of the causes, treatment and care of diseases
The aim is to create a new genomic medicine service for the NHS – transforming the way people are cared for. Patients may be offered a diagnosis where there wasn’t one before. In time, there is the potential for new and more effective treatments. The project will also enable new medical research. Combining genomic sequence data with medical records is a ground-breaking resource. Researchers will study how best to use genomics in healthcare and how best to interpret the data to help patients. The causes, diagnosis and treatment of disease will also be investigated. We also aim to kickstart a UK genomics industry. This is currently the largest national sequencing project of its kind in the world.
Recruitment to this study is now closed. You can read about the outcomes of this project here. In particular we had 500 patients from our centre participating, and you can read here the story of one our patients Eileen who got a diagnosis by taking part in this study. This crucial work led to a pulication which you can find here tln_march2022_p234_245r2_21tln0035_tucci8.pdf