Prospective, Observational Study To Assess The Safety Of Rituximab In Combination With Chemotherapy In Patients With Previously-Untreated Or Relapsed Or Refractory B Cell-Lineage Chronic Lymphocytic Leukaemia (B-CLL): Preliminary Results

Abstract Aim and Background The efficacy and safety of rituximab plus chemo (R+chemo) for first-line and relapsed B-CLL patients(pts) have been widely investigated in clinical trials and large patient cohorts, but much less is known about whether such regimens can be effectively and safely administered to unselected pts in the community setting to reflect the routine care of B-CLL pts. Therefore, this observational study was designed to characterize the type, severity and frequency of all adverse events occurring on-treatment and in the year following rituximab infusion. A secondary objective was to assess response rate (CR/nPR/PR), duration of response, disease-free survival, overall survi…

Detection of three rare (G377S, T134P and 1451delAC), and two novel mutations (G195W and Rec[1263del55;1342G>C] in Spanish Gaucher disease patients

To study glucocerebrosidase mutations causing Gaucher disease, we have screened 30 apparently unrelated patients for the presence of 7 previous described mutations. N370S (1226A>G) was the most common mutation (43%), followed by L444P (1448T>C) (23%). To identify the other unknown mutations, we screened regions of the glucocerebrosidase gene (GBA), by SSCP and sequencing. These analyses allowed identification of one novel G195W (700G>T), and two rare T134P (517A>C) and G377S (1246G>A) missense mutations. Mutation T134P (517A>C) was present in a type I patient, while G195W (700G>T), was encountered in two patients (types I, and III). The prevalence of mutation G377S (1246G>A), previously und…

Gastrointestinal disturbances and their management in miglustat‐treated patients

Miglustat (Zavesca®) is approved for the oral treatment of adult patients with mild to moderate type 1 Gaucher disease (GD1) for whom enzyme replacement therapy is unsuitable, and for the treatment of progressive neurological manifestations in adult and paediatric patients with Niemann-Pick disease type C (NP-C). Gastrointestinal disturbances such as diarrhoea, flatulence and abdominal pain/discomfort have consistently been reported as the most frequent adverse events associated with miglustat during clinical trials and in real-world clinical practice settings. These adverse events are generally mild or moderate in severity, occurring mostly during the initial weeks of therapy. The mechanis…

Early access experience with VPRIV®: Recommendations for ‘core data’ collection