Experts Establish New Set of Goals for Managing Gaucher Disease

Experts Establish New Set of Goals for Managing Gaucher Disease

More effort should be made to improve quality of life, reduce fatigue and encourage normal participation in school and work activities in people with Gaucher disease. These are some of the goals determined by a group of international experts, based on published literature and patient input.

They published their findings in a report titled “Management goals for type 1 Gaucher disease: An expert consensus document from the European working group on Gaucher disease,” published in the journal Blood Cells, Molecules and Disease.

The new set of goals could serve as a basis for improved treatment guidelines for the management of the disease as well as a starting point for further research. It can also improve understanding of less specific symptoms seen in Gaucher patients like fatigue; risk factors associated with the disease like certain cancers and Parkinson’s disease; and the long-term effect of therapies such as enzyme replacement therapy (ERT) and substrate reduction therapy on patients’ quality of life and longevity.

Researchers increasingly recognize that information about how a patient feels and functions is critical to any comprehensive evaluation of treatment in Gaucher disease. This information is obtained using patient-reported outcome measurements, or PROMs. Therefore, it’s really important to use or develop well-validated scoring systems that can accommodate the collection of PROMs.

The scientists performed a so-called Delphi procedure among 25 experts. The Delphi method is a structured communication system which relies on a panel of experts to develop a group consensus. The experts first formulated 65 potential goals based on a literature review and with input from patients. If 75 percent or more of the experts agreed to include a particular statement in the management goals, it was considered that consensus had been reached. 

The Delphi method is based on the principle that decisions made by a structured group of people are more accurate than decisions made by unstructured groups.

Using this approach, experts agreed on 42 statements. These included goals regarding the prevention of complications and elimination or reduction of signs and symptoms related to anemia,  bleeding, bone disease, liver and spleen involvement, and lung complications in Gaucher disease.

In addition to these traditional goals, improvement in quality of life, fatigue and social participation, as well as early detection of long-term complications or associated diseases were also included in the newly produced set of goals.

The authors noted that that this is not a completed task but an ongoing process. “Given the complexity of [Gaucher disease], and limited knowledge as to long-term outcomes and PROMs, the current set of goals should be reconsidered in the light of new evidence as this becomes available,” they wrote.

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