Tool Maps a Rare Disease

A new tool for mapping disease severity and outcomes in patients with Gaucher disease (GD) may help physicians develop a standardized approach to treatment that emphasizes published therapeutic goals, according to a presentation at the 7th Annual WORLD Symposium of the Lysosomal Disease Network last month in Las Vegas, Nevada.

The resource might be particularly helpful to hematologists, who treat an estimated 70% of patients with the ultrarare genetic condition. Patients with GD, which accounts for a majority of the more than 10,000 cases worldwide, may face bone disease, bleeding problems, and an increased risk of cancer.

An international panel developed the Therapeutic Goals MAP (monitor, action, and progress) tool, which provides a visual representation of patient status and outcomes that can be easily interpreted by physicians, healthcare providers, and patients.

The tool delineates the clinical outcomes needed for determining the attainment of therapeutic goals and for scoring disease severity in a visual output that demonstrates changes over time at defined intervals. Physicians can therefore easily monitor a patient’s progress, review treatment strategy, and share information with the patient. Currently, the tool is available in hard copy with overlays and as an electronic version.

Neal J. Weinreb, MD, regional coordinator of the International Collaborative Gaucher Group and director of University Gaucher Disease—Fabry Disease Treatment Center, Coral Springs, Florida, presented information on the tool on behalf of the Therapeutic Goals MAP Taskforce. Shire HGT, a business unit of Shire, plc, is funding its research and development. Taskforce members in the United States, Israel, and Europe have recently begun using the instrument at their centers.

“There will be survey tools to be completed by physicians, study coordinators, and patients, so that we can assess the level of satisfaction with the instrument for regular clinical use,” Weinreb said.

The tool will not be released for general use until after the initial study phase is completed, but once tested, it will likely be available online and will not be restricted to participants in a Shire-specific disease registry or outcome survey.

“Theoretically, a similar instrument could be useful for virtually any chronic disorder with well-defined disease domains, measures of response and a validated system of severity grading.” Weinreb said. “The number of spokes on the wheel would not necessarily have to be restricted, although too many would make the tool excessively busy and cumbersome to use.”