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Exciting news!

We are so pleased to announce that Takeda has announced a US trial for their enzyme replacement therapy to treat metachromatic leukodystrophy patients. This clinical trial represents a "game-changing" moment for leukodystrophy patients.

If you would like to learn more to see if your child can participate, please go to this link.  Lurie Children's Hospital's Leukodystrophy Program is overseeing the first site in Chicago, IL.

Embolden Study - They are looking for children 18 months to six years old to participate in the clinical study. 

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Research is a crucial part of the work that needs to happen to improve care and develop treatments, that will lead to cures for leukodystrophy. 

There are two sorts of research you might learn about: clinical research and clinical trials. In clinical research, scientists and doctors seek to understand a disease and study the causes and impact of the disease over a patient’s lifetime. 

  • Clinical research will not provide a treatment for a patient, but it is a crucial first step for developing safe and effective drugs and therapies. Participants in clinical research will often receive testing and information about their condition.

  • In clinical trials, researchers or investigators follow a  protocol with a defined set of goals. The participants in a clinical trial typically receive an experimental treatment or drug the investigators hope to prove will be safe and effective. 

Finally, you will also hear a great deal about natural history studies.  A natural history study collects health information over time in order to understand how the medical condition or disease develops and to give insights into how it might be treated. Natural history studies are a form of clinical research.  Rare disease research is dependent on natural history studies because of the small patient populations.

Here is the link clinical to learn more about on-going clinical trials for leukodystrophies.


Even if a clinical trial is closed, it is sometimes possible to receive treatment through a compassionate use.  "Compassionate use," officially known as expanded access, is the use of an investigational drug or therapy outside of a clinical trial to treat a patient with a serious or immediately life-threatening disease or condition which has no comparable or satisfactory alternative treatment options. If you believe your loved one might be helped by a treatment, contact the researchers directly to learn if your loved one might be able to get access to the experimental treatment through compassionate use.


We are eager to see papers and research for leukodystrophies,  please submit papers and articles of interest. Preference is given to articles written in an accessible, non-academic style. 



Clinical research occurs in many formats and can involve anyone. Learn how you can participate and contribute to medical advances.​

What is the Natural History Study? -

What are clinical trials and how is a patient eligible to participate?

Nick Leschly, CEO of Bluebird Bio, explains how biotechnology can deliver corrective genes into a patient's diseased cells to treat adrenoleukodystrophy or ALD. 

Advanced Research

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