Cerebrotendinous xanthomatosis

Clinical Research/Studies

Is there clinical research happening on cerebrotendinous xanthomatosis?

The Sterol and Isoprenoid Research (STAIR) Consortium represents a collaborative group of investigators along with their academic medical centers and the National Institutes of Health, patient advocacy groups (PAGs), and clinical research programs. This organization is focused on studying a group of diseases that includes cerebrotendinous xanthomatosis bound by common biochemistry, impact on health, and rarity. STAIR is part of the Rare Diseases Clinical Research Network (RDCRN) an initiative of the Office of Rare Diseases Research, NCATS, and is made up of 22 research consortia. They work together to improve availability of rare disease information, treatment, clinical studies, and general awareness for both patients and the medical community.

Other places to check for research studies are listed below.

  1. https://clinicaltrials.gov/ These are studies receiving US government funding. Some studies are supported by private industries.
  2. In Europe, the EU Clinical Trial Register performs a similar service.
  3. To learn about clinical trials sponsored by private sources, you can contact www.centerwatch.com
  • Clinicaltrials.gov website. https://clinicaltrials.gov/
  • Bleyle S, Huidekoper H, Vaz FM, et al. Update on newborn dried bloodspot testing for cerebrotendinous xanthomatosis: An available high-throughput liquid-chromatography tandem mass spectrometry method. Mot Genet Metab Rep. 2016;7:11-15.
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How do I find clinical research on cerebrotendinous xanthomatosis?

How do I find clinical research on cerebrotendinous xanthomatosis?

To learn about ongoing clinical research into cerebrotendinous xanthomatosis ask a physician who specializes in the disorder. Genetic counselors and medical geneticists are also excellence sources of information about ongoing clinical trials and can offer advice about the pros and cons about participating in such a trial.

Ongoing studies for cerebrotendinous xanthomatosis can also be found on clinicaltrials.gov, a service of the U.S. National Institutes of Health. In Europe, the EU Clinical Trial Register performs a similar service.

Support groups also have information about ongoing clinical trials as well as information and advice about participating in clinical trials. The United Leukodystrophy Foundation is a support group that can provide information on clinical trials and current research on disorders classified as leukodystrophies including cerebrotendinous xanthomatosis.


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