Donation of biological samples is a vital means towards discovering urgently needed new treatment and improving upon current treatment.
Why is sample donation important to ALD/AMN research?
Collecting and storing biological samples, both fluid and tissue, can lead to improved clinical care for patients. Discoveries can include identification of biomarkers and genetic factors that contribute to ALD/AMN. This allows researchers to study how disease progresses, how to most effectively facilitate treatment, and how to observe any surfacing trends and patterns.
Biomarkers are molecules found in body fluids and tissues that can reveal an abnormal process, such as a condition or disease. Biomarkers may also be used to measure how well the body responds to a treatment. Because it can be difficult to diagnose and monitor progression in ALD/AMN, biomarkers are especially important. Validated biomarkers can play a part in earlier diagnosis or lead to more individualized treatment by revealing important molecular changes in ALD/AMN patients.
The study of genetic codes and gene expression beyond the ALD gene (known as ABCD1) is also important. By understanding the changes in gene expression in the broader genome, researchers can better understand the role specific genes and their proteins play in the development and progression of ALD/AMN phenotypes. Utilization of stored samples has already been shown to be a key factor in the discovery of important molecules related to ALD/AMN.
How can I donate?
Most ALD Connect sites are actively collecting samples. See our list of studies currently recruiting to find opportunities to donate. (Coming soon…)
The following samples are being sought:
- Cerebrospinal fluid (CSF)
- Whole blood
- Extracted DNA
- Post-mortem tissue
While some sites may not be currently initiating research with their available samples, the samples will be saved and banked for future research. This serves as a vast resource and tool for researchers to utilize as new areas of ALD/AMN research emerge.
Samples are needed from ALD/AMN patients and their family members, as well as healthy, unaffected people who do not have the ALD genotype (often referred to as “healthy controls”). If you choose to donate, you will learn more about the specific procedures and outcomes measures through the consenting process.
Sample donation is an immeasurable gift to those living with ALD/AMN, and their caregivers and families.