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Autosomal Dominant Leukodystrophy (ADLD) is a rare, genetic disease that causes symptoms similar to multiple sclerosis (MS) e.g., paralysis, speech impairment, bowel dysfunction, etc. ADLD is a fatal disease that slowly progresses - patients often suffer from the disease for several decades after onset.
The mission of the ADLD Center (www.adld.center) is to support research into various aspects of Autosomal Dominant Leukodystrophy. We aim to focus on facilitating research on how the disease works, as well as potential therapies, while helping create a support network to disseminate relevant and helpful information for patients and their families.
Our Work Includes:
- Raising awareness about ADLD among physicians, scientists, and the general public
- Supporting relevant research through a grant research program
- Providing a caring and educational community for patients and their families; and
- Serving as a unique information resource.
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In 2025, we
- Successfully initiated our first-ever 1-patient Clinical Trial, with the participant already having received four doses of an antisense oligonucleotide (ASO) medicine,
- Reached a significant milestone in our Natural History Study by recruiting 35 participants
- Published the first evidence-based Clinical Care Guidelines to empower families and clinicians, and
- Kicked off a global Prevalence Study in partnership with Mass General Brigham to better estimate the number of people affected by ADLD.
These achievements, bolstered by the addition of four new board members and a new research grant, have transitioned us from simply understanding ADLD to actively treating it.
Our progress has set the stage for an even more ambitious 2026. Our primary scientific goals include
- Expanding the 1-patient clinical trial to more participants,
- Exploring and validating additional biomarkers for ADLD, and
- Completing the stand-up of our drug discovery pipeline by testing new approaches in both cell and mouse models
To achieve this, we have set a fundraising goal of $550,000. These funds are critical to sustaining our scientific team, continuing the Natural History Study, and ensuring we have the regulatory support needed to bring new treatments to our community.