Development of a new mass spectrometry-based biomarker for the early and sensitive diagnosis of Gaucher Disease from blood (plasma)

NCT01331642

Conditions

1. Splenomegaly
2. Hepatomegaly

MeSH:Hepatomegaly Gaucher Disease Splenomegaly

HPO:Hepatomegaly Splenomegaly

More frequent mutations are N370S, L444P, IVS2+1G>A, c.84insG, R463C and R496H. --- N370S --- --- L444P --- --- R463C --- --- R496H ---

This is a multicenter study to assess the safety and efficacy of taliglucerase alfa (60 units/kg) in previously untreated subjects of any age with Type 3 GD. Subjects will receive an infusion of taliglucerase alfa every 2 weeks for 12 months. Subjects who tolerate the infusions well, and who are treated in centers where home therapy is the SOC will be allowed to switch from site to home treatment at the discretion of the PI but after no less than 3 uneventful infusions at the site.

NCT04002830

Conditions

1. Gaucher Disease, Type 3

Interventions

1. Drug: Elelyso

MeSH:Gaucher Disease

At least one allele of: - N370S (N409S in recent nomenclature) - R496H (R535H in recent nomenclature) 4. Presence of calcification in heart valves or arteries in echocardiography. 5. Presence of untreated iron, folic acid, vitamin B12 deficiency and/or hypothyroidism. --- N370S --- --- N409S --- --- R496H ---