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Genetic and Rare Diseases Information Center (GARD)

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Wolman disease

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Other Names for this Disease

  • Familial Xanthomatosis
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 storage disorder. 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.[1] The condition is severe and life-threatening, however new therapies, such as hematopoietic cell transplantation, have shown promise in improving the outlook of children with this disease.[2]
Last updated: 10/1/2008

Is Wolman disease curable?

Yes. Children with Wolman disease have been cured by early treatment with hematopoietic cell transplantation[2] and umbilical cord stem cell transplantation.[3]  

Click here to learn more about hematopoietic cells.
Click here to learn more about bone marrow transplantation.
Click here to learn more about umbilical cord stem cell transplantation.
Last updated: 10/1/2008

Are there any clinical trials enrolling patients with Wolman disease?

Yes. The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. There is a study titled Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism and one titled Genetic Studies of Lysosomal Storage Disorders which may be of interest to you. To find these trials, click on the links above.

You can also contact the Patient Recruitment and Public Liaison (PRPL) Office at the National Institutes of Health (NIH). We recommend calling the toll-free number listed below to speak with a specialist, who can help you determine if your child is eligible for any clinical trials.  

Patient Recruitment and Public Liaison Office
NIH Clinical Center
Bethesda, Maryland 20892-2655
Toll-free: 800-411-1222
Fax: 301-480-9793
Email: prpl@mail.cc.nih.gov
Web site:  http://clinicalcenter.nih.gov/

If you are interested in enrolling your child in a clinical trial, you can find helpful general information on clinical trials at the following ClinicalTrials.gov Web page.
http://clinicaltrials.gov/ct2/info/understand

A tutorial about clinical trials that can also help answer your questions can be found at the following link from the National Library of Medicine:
http://www.nlm.nih.gov/medlineplus/tutorials/cancerclinicaltrials/htm/lesson.htm

Resources on many charitable or special-fare flights to research and treatment sites and low-cost hospitality accommodations for outpatients and family members, as well as ambulance services, are listed on the Web site of the Office of Rare Diseases (ORD), part of the National Institutes of Health.
http://rarediseases.info.nih.gov/Resources.aspx?PageID=8

Last updated: 10/1/2008

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

BMT InfoNet provides a searchable list of transplant centers. Click on BMT InfoNet to find a list of transplant centers that are treating children with Wolman disease. 
Last updated: 10/1/2008

Are other therapies for Wolman disease being investigated?

Yes. Other therapies for Wolman disease are being investigated, including manufactured lysosomal acid lipase (LAL) enzyme[4] and gene therapy.[5] However, these studies are in the very early stages.
Last updated: 10/1/2008

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.
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed  

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: 10/1/2008

References
  • Wolman disease. Genetics Home Reference. 2007; http://ghr.nlm.nih.gov/condition=wolmandisease. Accessed 10/1/2008.
  • 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;
  • Scheinfeld NS, Tabamo RE, Klein B. Lysosomal Storage Disease. eMedicine. 2008; http://www.emedicine.com/neuro/TOPIC668.HTM#section~WolmanDiseaseandCholesterylEsterStorageDisease. Accessed 10/1/2008.
Other Names for this Disease
  • Familial Xanthomatosis
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.