Gaucher Patients Sought for Survey About Lysosomal Storage Disorders Treatment

Gaucher Patients Sought for Survey About Lysosomal Storage Disorders Treatment

A Lysosomal Storage Disease Research Program at Massachusetts General Hospital is conducting a survey as part of a study to investigate how those patients perceive their treatment.

The survey asks for patients' opinions on enzyme replacement therapy (ERT) and substrate reduction therapy (SRT) and is anonymous.

Titled, “Factors influencing patient preferences for oral versus intravenous (IV) enzyme replacement medication,” the survey takes approximately 15 minutes to complete.

The Massachusetts research Program is led by Amel Karaa, MD, clinical director. Under Karaa’s guidance, researchers are seeking patients with Gaucher disease, as well as Fabry and Pompe disease (all three are lysosomal storage diseases) to participate in the survey.

The questionnaire includes questions such as “Which statement best describes how you feel about your infusion day?” and “If an oral therapy were available what factors would most influence you to choose that option?” or “If you could choose the ideal modality to treat your LSD what would it be?”

Besides Gaucher, Fabry, and Pompe, lysosomal storage diseases include Hurler syndrome, Hunter syndrome, and Maroteaux-Lamy syndrome, among more than 50 identified to date.

According to the National Organization for Rare Disorders (NORD), lysosomal storage diseases are inherited metabolic diseases caused by defects in lysosomal function. Lysosomes are small sacs of enzymes within cells that digest toxic waste and cellular structures that are no longer needed.

In each case, lysosomal storage diseases are caused by an inborn error of metabolism that results in the absence or deficiency of a lysosomal enzyme, leading to the inappropriate buildup of material in various cells in the body.

Most lysosomal storage diseases are inherited in an autosomal recessive manner. Recessive genetic disorders occur when an individual inherits the same abnormal gene from each parent. Prenatal diagnosis is possible for all lysosomal storage diseases, including Gaucher.

ERT has proven effective for individuals with Gaucher disease type 1, according to NORD. The approach largely improves the clinical symptoms of the disease, including anemia and low platelet counts, spleen and liver enlargement, and skeletal problems. However, ERT has not been effective in ameliorating certain neurological symptoms associated with Gaucher disease types 2 and 3.

Genzyme’s orphan drug candidate Ceredase (alglucerase injection), a placenta-derived enzyme, was approved by the U.S. Food and Drug Administration (FDA) in April 1991 for the treatment of Gaucher type 1; it was the first ERT approved for that indication. Ceredase replaces glucocerebrosidase, the enzyme that individuals with Gaucher lack.

The synthetic form of Ceredase, Cerezyme, was approved in 1994 and represented an important step in overcoming limitations of the availability of Ceredase, which is derived from human tissue.

In 2003, the FDA approved Zavesca (miglustat), a tablet, as the first oral treatment option for patients with Gaucher type 1. Zavesca was the first SRT approved by the FDA for individuals with mild-to-moderate disease who do not respond to ERT. The treatment works to prevent the material from building up when glucocerebrosidase does not work.

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