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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Bloom syndrome


Other Names for this Disease
  • BLM
  • Bloom-Torre-Machacek syndrome
  • BLS
  • BS
  • Congenital Telangiectatic Erythema
More Names
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Your Question

My nephew and niece, ages 4 and 1, have been diagnosed with Bloom syndrome very recently. We, as a family, are passing through a lot of stress and would be highly obliged if you could let us know if there is any treatment or gene therapy which can be offered now or in the near future. Any help or leads would be highly appreciated.

Our Answer

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

How might Bloom syndrome be treated?

There is currently no cure for Bloom syndrome, so treatment is generally symptomatic and supportive. Because affected individuals are hypersensitive to DNA-damaging chemicals and ionizing radiation, standard cancer treatment plans often need to be adjusted for affected individuals. Changes may include reducing both the dosage and duration of the treatment; however, the cancers in affected individuals are often unusually responsive to treatment. The wide variety of types of cancer as well as the early development of tumors in affected individuals make life-long cancer surveillance significantly important. Additionally, it is recommended that individuals avoid sun exposure to the face, particularly in infancy and early childhood. Treatment of diabetes is typically the same as for individuals in the general population.[1]
Last updated: 9/1/2011

Is gene therapy available for the treatment of Bloom syndrome?

Gene therapy, a technique for treating disease by altering the patient's genetic material, is not currently available for individuals with Bloom syndrome. In the United States, The Food and Drug Administration (FDA) has not yet approved any human gene therapy product for sale. Current gene therapy is experimental and has not proven very successful in clinical trials.[2]

ClinicalTrials.gov lists trials in the U.S and around the world that are studying the use of gene therapy for a variety of conditions. Although there may not be a trial specific to gene therapy for Bloom syndrome listed at this time, this site is updated regularly and may be checked periodically. To search for trials studying the use of gene therapy for Bloom syndrome, click here.

More information about gene therapy including a description, the current status of research, and links to additional information can be found on a gene therapy fact sheet sponsored by the U.S. Department of Energy Office of Science.
Last updated: 9/6/2011

Where can I find up-to-date information about current and potential future treatments for Bloom syndrome?

The following resources contain information about the management of Bloom syndrome:
  • eMedicine provides detailed information on the treatment of this condition. This resource is aimed at healthcare professionals. You may need to register to view the article, but registration is free.
  • GeneReviews provides current, expert-authored, peer-reviewed information including information about the management of this condition.
  • Bloom's Syndrome Foundation provides a descriptive summary prepared by the Bloom’s Syndrome Registry, including information about management of this condition.
  • ClinicalTrials.gov lists trials that are studying or have studied treatments for Bloom syndrome. This site may be checked often for updates.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Bloom syndrome. Click on the link to view a sample search for articles on the treatments for this condition.
Last updated: 9/6/2011

References