Wolman Disease - Prognosis

Prognosis

There are currently no approved treatments for Wolman disease and no treatments have been shown in clinical trials to stop or reverse the abnormalities in patients with Wolman disease.
Treatment is mainly focused on reducing specific complications and these complications may differ between patients. Treatment is often provided in specialized centers and may require input from a team of different specialists. Genetic counseling may be of benefit for affected individuals and their families. Specific interventions may include:

• A change from breast or normal bottle formula to a specialized low fat formula
• Introduction of intravenous feeding (parenteral nutrition)
• Antibiotics for infections
• Steroid replacement therapy because of concerns about adrenal function

Investigational Therapies
Some children with Wolman Disease have had an experimental therapy called hematopoietic stem cell transplantation (HSCT), also known as bone marrow transplant, to try to prevent the disease from getting worse.

• Hematopoietic stem cells are specialized cells found in the bone marrow (the soft spongy material found in long bones). These blood stem cells grow and eventually develop into one of the three main types of blood cells - red blood cells, white blood cells or platelets.
• Stem cell replacement, which requires the child to be hospitalized and treated with very strong medicines before and after the procedure, has its own significant risks and potential benefits
  • The healthy cells produced by the new marrow contain sufficient levels of lysosomal acid lipase required to break down cholesterol and triglycerides.
  • Individuals with Wolman disease treated with hematopoietic stem cell transplantation have shown improvement of existing symptoms and avoidance of additional complications such as liver failure.
  • HSCT for Wolmans disease at present is associated with a high risk of serious complications including death, graft-versus-host disease and other long-term and late effects.
  • More research is necessary to determine the long-term safety and effectiveness of this potential therapy for infants with Wolman disease.

Researchers are currently studying enzyme replacement therapy for LSDs such as Wolman disease. Enzyme replacement therapy involves replacing a missing enzyme in individuals who are deficient or lack the particular enzyme in question. Synthetic versions of missing enzymes have been developed and used to successfully treat individuals with other LSDs including Fabry disease and Gaucher disease.

Gene therapy is also being studied as another possible approach to therapy for some LSDs. In gene therapy, the defective gene present in a patient is replaced with a normal gene to enable the production of active enzyme and prevent the development and progression of the disease in question. Given the permanent transfer of the normal gene, which is able to produce active enzyme at all sites of disease, this form of therapy is theoretically most likely to lead to a "cure." However, at this time, there are many technical difficulties to resolve before gene therapy can succeed.

Synageva BioPharma Corp. of Lexington, Massachusetts, is recruiting patients to participate in a clinical trial that evaluates an enzyme replacement therapy of Lysosomal Acid Lipase (LAL) Deficiency.