PracticeUpdate Conference Series_WORLDSymposium 2019

Velaglucerase α Maintains Improvement Long Term in Patients With Gaucher Disease Patients maintain stabilization or improvement over 4 years. A fter 4 years of velaglucerase α treat- ment for Gaucher disease, patients have been shown to maintain sta- bilization or improvement, outcome of a long-term registry analysis shows. Hemoglobin levels, platelet counts, liver and spleen volume, and chitotriosidase levels were assessed. At baseline (start of velaglucerase α), 77.2% patients were age ≥18 years, 58.9% were female, 52.8% had a known N370S-containing genotype, and 87.8% harbored an intact spleen (including partial splenectomy). 4 years, while spleen size decreased from 7.5 MN to 6.4 MN (n=4), a mean reduction of 1.2 MN.

Mean chitotriosidase values dropped by 4302.7 to 1019.1 × 1907.45 nmoL/mL/h at year 4 (n=14). Overall, 61 (31.0%) patients experienced 153 adverse events during velaglucerase α treatment; 16 adverse events in 10 patients were considered related to velaglucerase α, but none were serious. Dr. Lau explained that Gaucher disease is a rare, autosomal-recessive condition characterized by hepatosplenomegaly, thrombocytopenia, and anemia. Glucocerebroside accumulates in cells and certain organs. The disorder is characterized by bruising, fatigue, ane- mia, low platelet count, and liver and spleen enlargement. Glucocerebroside accumulates, particularly in leuko- cytes and especially in macrophages. Glucocerebroside can collect in the spleen, liver, kidneys, lungs, brain, and bone marrow. Skeletal disorders and bone lesions may be painful. Severe neurological compli- cations, swelling of the lymph nodes, and (occasionally) adjacent joints, distended abdomen, a brownish tint to the skin, anemia, and yellow fatty deposits on the sclera are also features. Patients affected seriously may also be more susceptible to infection. Clinical features are heterogeneous, as is response to treatment. Skeletal disease is complex, and a proportion of patients do not respond or progress despite Gaucher-specific therapy. Determinants of skeletal response are not known. The disease is characterized by polyclonal gammopathy and monoclonal gammop- athy of undetermined significance. Velaglucerase α therapy resulted in improvements in these parameters in clinical studies, yet data are limited on long-term efficacy and safety. Dr. Lau concluded that this analysis suggests that improvements in clinical parameters achieved with velaglucerase α can be maintained long term in real-life clinical practice.

Heather Lau, MD, of New York University, evaluated 197 treatment-naive patients who initiated velaglucerase α on enroll- ment into the Gaucher Outcome Survey and continued the therapy for up to 8 years (mean, 59.8 months). The Gaucher Outcome Survey is an international registry for patients with confirmed Gaucher disease regardless of type or treatment status that collects data during patients’ routine care and provides an opportunity for long-term analysis of patients receiving velaglucerase α.

After 4 years of velaglucerase α treatment, patients had maintained their stabilization or improvement in all measured clinical parameters. Mean hemoglobin levels had increased by 7.5 g/L from baseline to 136.4 ± 12.8 g/L (n=19 patients with available data). Mean platelet counts increased by 54.6 × 109/L to 166.4 (57.9) × 109/L (n=19). Liver size remained stable at 1.2 MN (n=4) over

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PRACTICEUPDATE CONFERENCE SERIES • WORLDSymposium 2019 16