Among all randomly assigned patients (with mutant α-galactosidase forms that were suitable or not suitable for migalastat therapy), the percentage of patients who had a response at 6 months did not differ significantly between the migalastat group and the placebo group. (Funded by Amicus Therapeutics; ClinicalTrials.gov numbers, NCT00925301 [study AT1001-011] and NCT01458119 [study AT1001-041].).

Pegunigalsidase alfa, a novel PEGylated, covalently crosslinked form of α-galactosidase A developed as enzyme replacement therapy (ERT) for Fabry disease (FD), was designed to increase plasma half-life and reduce immunogenicity, thereby enhancing efficacy compared with available products. Symptomatic adults with FD participated in this open-label, 3-month dose-ranging study, followed by a 9-month extension. Three cohorts were enrolled in a stepwise manner, each receiving

In real-world clinical practice, there is substantial variability in the diagnosis and treatment of CUA. There is usually only modest derangement of bone and mineral parameters at the time of diagnosis. Death is common. The presence of CVD and use of warfarin may influence clinical outcome after diagnosis of CUA.

BackgroundWhether slow graft function (SGF) represents an intermediate phenotype between immediate graft function (IGF) and delayed graft function (DGF) in kidney transplant recipients is unknown.Material/MethodsIn a retrospective cohort analysis of 1,222 kidney transplant recipients, we classified patients as having IGF, SGF, and DGF using two different schemas. SGF was defined as serum creatinine (Cr) ≥3.0 mg/dL by postoperative day 5 in Schema 1, and in Schema 2, SGF was defined as Cr >1.5 mg/dL plus a creatinine reduction ratio <20% between postoperative days 1 and 3. A complementary log-log model was used to examine the association of graft function with graft survival and patient survival.ResultsMean age of study patients was 51.5±13.3 years, 59.9% were male, and 66.7% were white. In Schema 1, SGF and DGF were associated with comparable increases in risk of graft failure compared to IGF (hazard ratio (HR) 1.46, 95% confidence intervals (CI) 1.02–2.10 for SGF and HR 1.56, CI 1.11–2.22 for IGF); estimates were similar for Schema 2 (HR 1.52, CI 1.05–2.20 for SGF and HR 1.54, CI 1.10–2.17 for IGF). However, for mortality, outcomes for SGF were similarly to IGF, both SGF and IGF were associated with lower risk relative to DGF (HR 0.54, CI 0.36–0.80 for SGF in Schema 1; HR 0.58, CI 0.39–0.85 for SGF in Schema 2).ConclusionsThese findings suggest that SGF may be a marker for graft failure but not for mortality, and SGF may therefore represent a phenotype separate from IGF and DGF.

Dialysis disequilibrium syndrome (DDS) is a rare central nervous system (CNS) disease which develops in patients receiving hemodialysis (HD). Although it has been reported in patients receiving chronic HD, DDS is more common during or immediately after the first HD treatment. The exact incidence of DDS is unknown. Death in DDS is an extremely rare phenomenon and to the best of our knowledge only 9 cases have been reported showing this association. We present a unique case of a 42-year-old female on chronic HD, and no prior history of CNS disease, who developed brain death in the setting of DDS 2 hours into the dialysis treatment. A literature review of all previously reported cases was performed.