Trials for Slowly Progressive Neurogenetic Diseases Need Surrogate Endpoints
Mary M Reilly1, David N Herrmann2, Davide Pareyson3
1Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
Annals of Neurology
|March 9, 2023
Summary
Developing biomarkers from imaging, plasma, or skin can predict disease progression in rare inherited peripheral neuropathies. This approach may enable shorter clinical trials for these challenging neurogenetic disorders.
Area of Science:
- Neurology
- Genetics
- Biomarker Development
Background:
- Heritable neurological disorders offer insights into disease mechanisms and novel therapeutic strategies like gene replacement.
- Rare and slowly progressive neurogenetic diseases present challenges in measuring disease progression for clinical trials.
- Inherited peripheral neuropathies exemplify these challenges, necessitating innovative assessment methods.
Purpose of the Study:
- To develop clinical outcome assessments and disease biomarkers for inherited peripheral neuropathies.
- To enable shorter clinical trials for rare and ultra-rare neurogenetic disorders.
- To establish biomarkers that predict meaningful progression in functional and patient-reported outcomes.
Main Methods:
- Experience developing clinical outcome assessments.
- Experience developing disease biomarkers.
- Utilizing imaging, plasma, and skin for biomarker discovery.
Main Results:
- Biomarkers from imaging, plasma, or skin were developed.
- These biomarkers show potential to predict disease progression.
- The developed biomarkers can predict meaningful progression in functional and patient-reported outcomes.
Conclusions:
- Carefully developed biomarkers can predict disease progression in inherited peripheral neuropathies.
- Biomarker development is crucial for facilitating clinical trials in rare neurological disorders.
- Shorter clinical trials (under 2 years) may become feasible for rare and ultra-rare inherited neuropathies.
More Related Videos
Related Concept Videos
01:11Clinical Trials: Overview
3.1K
Clinical development focuses on how the drug will interact with the human body and encompasses four key phases of clinical trials, each serving a specific purpose in assessing the safety and effectiveness of new drugs. These phases overlap and build upon one another. Phase I involves a small group of healthy volunteers (typically 20-80 individuals) or, in cases where significant toxicity is expected, patients with the targeted disease, such as cancer or AIDS. The volunteers are tested for...
3.1K
01:16Clinical Trials
6.9K
Clinical trials are prospective experimental studies conducted on humans to determine the safety and efficacy of treatments, drugs, diet methods, and medical devices. Using statistics in clinical trials enables researchers to derive reasonable and accurate conclusions from the collected data, allowing them to make wise decisions in uncertain situations. In medical research, statistical methods are crucial for preventing errors and bias.
There are four phases in a clinical trial. A phase one...
There are four phases in a clinical trial. A phase one...
6.9K
01:15Parkinson's Disease: Overview
634
Neurodegenerative disorders are progressive diseases that cause irreversible damage and loss to neurons in specific brain areas. Examples of these disorders include Parkinson's disease, Alzheimer's disease, Multiple Sclerosis (MS), and Amyotrophic Lateral Sclerosis (ALS). These disorders share characteristics such as proteinopathies, selective neuronal vulnerability, and a complex interplay between genetic and environmental factors. The primary therapeutic goal for these conditions is...
634
02:46Genetic Screens
5.0K
Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
5.0K