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Diseases

Genetic and Rare Diseases Information Center (GARD)

Wolman disease


Other Names for this Disease
  • Familial Xanthomatosis
  • Liposomal Acid Lipase Deficiency, Wolman Type
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

Are there any new therapies for Wolman disease? Is it curable? How can I find clinical trials and research studies?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is Wolman disease?

Wolman disease is a type of lysosomal acid lipase deficiency.[1] It is an inherited condition that causes a buildup of lipids (fats) in body organs and calcium deposits in the adrenal glands. Common symptoms in infants include enlarged liver and spleen, poor weight gain, low muscle tone, jaundice, vomiting, diarrhea, developmental delay, anemia, and poor absorption of nutrients from food. Wolman disease is caused by mutations in the LIPA gene. It is inherited in an autosomal recessive manner.[2] The condition is severe and life-threatening, however new therapies, such as bone marrow transplantation, have shown promise in improving the outlook of children with this disease. Enzyme replacement therapy is also being developed.[3]
Last updated: 6/2/2016

Is Wolman disease curable?

While there is not a universal cure for all individuals with Wolman disease, some therapeutic options have resulted in correction of the underlying disease process. Studies have shown that children with Wolman disease have had successful early treatment with transplantation of hematopoietic stem cells (HSCT) and umbilical cord stem cells.[4][5] The use of HSCT is controversial as it can be associated with complications. More studies are needed to determine the overall efficacy of these treatment options.[1]
Last updated: 6/2/2016

How can I find clinical trials enrolling individuals with Wolman disease?

There may be several clinical trials enrolling individuals with Wolman disease. Visit our page on getting involved in research to learn more about where to start, how to find patient registries and biobanks, and how to get involved in research. 
Last updated: 6/2/2016

How can I find transplant centers that are treating children with Wolman disease?

BMT InfoNet, a non-profit organization dedicated to providing transplant patients and their loved ones with emotional support and information, provides a searchable list of transplant centers. Click on the "BMT InfoNet" link in the previous sentence to find a list of transplant centers that are treating children with Wolman disease. 
Last updated: 6/2/2016

Are other therapies for Wolman disease being investigated?

Yes. Manufactured lysosomal acid lipase (LAL) enzyme have been aproved for use [6] and gene therapy and stem cell treatment is under investigation.[3] Please visit the FDA website to learn more about current enzyme replacement therapy: FDA approves first drug to treat a rare enzyme disorder in pediatric and adult patients.
Last updated: 4/2/2016

How can I find additional comprehensive information on the treatment of Wolman disease?

You can find relevant journal articles on Wolman syndrome and its treatment through a service called PubMed, a searchable database of medical literature. Information on finding an article and its title, authors, and publishing details is listed here. Some articles are available as a complete document, while information on other studies is available as a summary abstract. To obtain the full article, contact a medical/university library (or your local library for interlibrary loan), or order it online using the following link. Using "Wolman syndrome[ti] treatment" as your search term should locate articles. To narrow your search, click on the “Limits” tab under the search box and specify your criteria for locating more relevant articles. Click here to view a search.  

The National Library of Medicine (NLM) Web site has a page for locating libraries in your area that can provide direct access to these journals (print or online). The Web page also describes how you can get these articles through interlibrary loan and Loansome Doc (an NLM document-ordering service). You can access this page at the following link http://nnlm.gov/members/. You can also contact the NLM toll-free at 888-346-3656 to locate libraries in your area.
Last updated: 6/2/2016

References
  • Hoffman EP, Barr ML, Giovanni MA & Murray MF. Lysosomal Acid Lipase Deficiency. GeneReviews. July 30, 2015; http://www.ncbi.nlm.nih.gov/books/NBK305870/. Accessed 10/7/2015.
  • Wolman disease. Genetics Home Reference. October 2007; http://ghr.nlm.nih.gov/condition/wolman-disease.
  • Kruer MC, Steiner RD. Lysosomal Storage Disease: Wolman Disease and Cholesteryl Ester Storage Disease. Medscape Reference. October 18, 2013; http://emedicine.medscape.com/article/1182830-overview#a7.
  • Tolar J, Petryk A, Khan K, Bjoraker KJ, Jessurun J, Dolan M, Kivisto T, Charnas L, Shapiro EG, Orchard PJ. Long-term metabolic, endocrine, and neuropsychological outcome of hematopoietic cell transplantation for Wolman disease. Bone Marrow Transplant. 2008 Sep 8;
  • Stein J, Garty BZ, Dror Y, Fenig E, Zeigler M, Yaniv I. Successful treatment of Wolman disease by unrelated umbilical cord blood transplantation. Eur J Pediatr. 2007 Jul;
  • Du H, Cameron TL, Garger SJ, Pogue GP, Hamm LA, White E, Hanley KM, Grabowski GA. Wolman disease/cholesteryl ester storage disease: efficacy of plant-produced human lysosomal acid lipase in mice. J Lipid Res. 2008 Aug;
Other Names for this Disease
  • Familial Xanthomatosis
  • Liposomal Acid Lipase Deficiency, Wolman Type
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.