Twenty-five years ago, on November 18, 1999, Stephan Kemp created the first version of the ABCD1 Variant Registry (then called the ALD Mutation Database) with the support of Prof. Hugo Moser of the Kennedy Krieger Institute and using “HTML for Dummies.” In 2017, we changed the URL to adrenoleukodystrophy.info to better reflect the site’s content. [Click to read more ▼]
The registry is an information platform dedicated to all aspects of adrenoleukodystrophy and is intended for physicians, researchers, laypeople, and patients. The information is currently available in five languages. Content is written in collaboration with experts on specific topics. Translations are done by colleagues and students. Web design and hosting are largely supported by friends. The Variant Registry is actively maintained and frequently updated, and it will remain freely accessible. It plays a central role in ALD diagnostics by providing information on each variant, including pathogenicity, the number of identified cases, additional scientific evidence, and references. ALD patients often mistakenly believe that each disease has its own actively maintained registry. Unfortunately, that’s not the case!