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View article: Enzyme replacement therapy in infants and very young children with Gaucher disease using velaglucerase alfa: a single-center experience
Enzyme replacement therapy in infants and very young children with Gaucher disease using velaglucerase alfa: a single-center experience Open
Objective To evaluate the effectiveness and safety of enzyme replacement therapy (ERT) with velaglucerase alfa, and offer insights into the clinical course of patients with Gaucher disease (GD) that were diagnosed and treated early in life…
View article: #197 A phase 4 study to evaluate the safety and tolerability of higher infusion rates of agalsidase beta to shorten the infusion duration in Fabry disease—Preliminary data
#197 A phase 4 study to evaluate the safety and tolerability of higher infusion rates of agalsidase beta to shorten the infusion duration in Fabry disease—Preliminary data Open
Background and Aims Fabry disease is an inborn, chronic disorder caused by mutations in the gene encoding the lysosomal enzyme, α-Galactosidase A (α-Gal A). These mutations cause αGAL A deficiency, which leads to the buildup of glycosphing…
View article: Age-related inflammatory biomarkers in early-onset osteoporosis in females with Gaucher disease
Age-related inflammatory biomarkers in early-onset osteoporosis in females with Gaucher disease Open
Gaucher disease (GD), the most common lysosomal disorder, is caused by a deficiency of the enzyme glucocerebrosidase (GCase). Accumulation of the substrate, glycosylceramide (Gb-1), and its lysosomal derivative, glucosylsphingosine, Lyso-G…
View article: The clinical utility of neurofilament light chain for early detection and prediction of disease burden and severity in neuronopathic Gaucher disease
The clinical utility of neurofilament light chain for early detection and prediction of disease burden and severity in neuronopathic Gaucher disease Open
Newborn screening, while enabling early diagnosis, poses challenges to correctly identifying and typing otherwise asymptomatic infants with neuropathic Gaucher disease (nGD). Glucosylsphingosine (Lyso-GL1) may be elevated at birth, but it …
View article: Safety and efficacy of migalastat in adolescent patients with Fabry disease: Results from ASPIRE, a phase 3b, open-label, single-arm, 12-month clinical trial, and its open-label extension
Safety and efficacy of migalastat in adolescent patients with Fabry disease: Results from ASPIRE, a phase 3b, open-label, single-arm, 12-month clinical trial, and its open-label extension Open
Fabry disease (FD) is a progressive, multisystemic, X-linked lysosomal disorder caused by reduced or absent α-galactosidase A activity due to galactosidase alpha (GLA) gene variants. Although clinical manifestations of FD often appear in c…
View article: Sex Differences in Circulating Inflammatory, Immune, and Tissue Growth Markers Associated with Fabry Disease-Related Cardiomyopathy
Sex Differences in Circulating Inflammatory, Immune, and Tissue Growth Markers Associated with Fabry Disease-Related Cardiomyopathy Open
Fabry disease (FD) is a lysosomal disorder due to alpha-galactosidase-A enzyme deficiency, accumulation of globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-Gb3) which lead to proinflammatory effects. Males develop progressive…
View article: A phase <scp>III</scp>, open‐label clinical trial evaluating pegunigalsidase alfa administered every 4 weeks in adults with Fabry disease previously treated with other enzyme replacement therapies
A phase <span>III</span>, open‐label clinical trial evaluating pegunigalsidase alfa administered every 4 weeks in adults with Fabry disease previously treated with other enzyme replacement therapies Open
Pegunigalsidase alfa, a PEGylated α‐galactosidase A enzyme replacement therapy (ERT) for Fabry disease, has a longer plasma half‐life than other ERTs administered intravenously every 2 weeks (E2W). BRIGHT (NCT03180840) was a phase III, ope…
View article: GBA1-Associated Parkinson’s Disease Is a Distinct Entity
GBA1-Associated Parkinson’s Disease Is a Distinct Entity Open
GBA1-associated Parkinson’s disease (GBA1-PD) is increasingly recognized as a distinct entity within the spectrum of parkinsonian disorders. This review explores the unique pathophysiological features, clinical progression, and genetic und…
View article: Twelve Years of the Gaucher Outcomes Survey (GOS): Insights, Achievements, and Lessons Learned from a Global Patient Registry
Twelve Years of the Gaucher Outcomes Survey (GOS): Insights, Achievements, and Lessons Learned from a Global Patient Registry Open
Background: Long-term patient registries are important for evaluating treatment outcomes in patients with rare diseases, and can provide insights into natural disease history and progression in real-world clinical practice. Initiated in 20…
View article: Neuronopathic Gaucher disease: Rare in the West, common in the East
Neuronopathic Gaucher disease: Rare in the West, common in the East Open
Gaucher disease (GD) stands as one of the most prevalent lysosomal disorders, yet neuronopathic GD (nGD) is an uncommon subset characterized by a wide array of clinical manifestations that complicate diagnosis, particularly when neurologic…
View article: The Expression and Secretion Profile of TRAP5 Isoforms in Gaucher Disease
The Expression and Secretion Profile of TRAP5 Isoforms in Gaucher Disease Open
Background: Gaucher disease (GD) is caused by glucocerebrosidase (GCase) enzyme deficiency, leading to glycosylceramide (Gb-1) and glucosylsphingosine (Lyso-Gb-1) accumulation. The pathological hallmark for GD is an accumulation of large m…
View article: Long-term safety and efficacy of cipaglucosidase alfa plus miglustat in individuals living with Pompe disease: an open-label phase I/II study (ATB200-02)
Long-term safety and efficacy of cipaglucosidase alfa plus miglustat in individuals living with Pompe disease: an open-label phase I/II study (ATB200-02) Open
Cipaglucosidase alfa plus miglustat (cipa + mig) is a novel, two-component therapy for Pompe disease. We report data from the Phase I/II ATB200-02 study for up to 48 months of treatment. Four adult cohorts, including one non-ambulatory ERT…
View article: Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study
Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study Open
Background Pegunigalsidase alfa is a PEGylated α-galactosidase A enzyme replacement therapy. BALANCE ( NCT02795676 ) assessed non-inferiority of pegunigalsidase alfa versus agalsidase beta in adults with Fabry disease with an annualised es…
View article: Biofabrication of an in-vitro bone model for Gaucher disease
Biofabrication of an in-vitro bone model for Gaucher disease Open
Gaucher disease (GD), the most prevalent lysosomal disorder, is caused by GBA1 gene mutations, leading to deficiency of glucocerebrosidase, and accumulation of glycosphingolipids in cells of the mononuclear phagocyte system. While skeletal…
View article: Long-term safety and efficacy of pegunigalsidase alfa: A multicenter 6-year study in adult patients with Fabry disease
Long-term safety and efficacy of pegunigalsidase alfa: A multicenter 6-year study in adult patients with Fabry disease Open
In this first long-term assessment of pegunigalsidase alfa administration in patients with FD, we found favorable safety/efficacy. Our data suggest long-term continuous benefits of pegunigalsidase alfa treatment in adults with FD.
View article: Circulated TGF-β1 and VEGF-A as Biomarkers for Fabry Disease-Associated Cardiomyopathy
Circulated TGF-β1 and VEGF-A as Biomarkers for Fabry Disease-Associated Cardiomyopathy Open
Fabry disease (FD) is a lysosomal disorder caused by α-galactosidase A deficiency, resulting in the accumulation of globotriaosylceramide (Gb-3) and its metabolite globotriaosylsphingosine (Lyso-Gb-3). Cardiovascular complications and hype…
View article: 2595 Efficacy and safety of avalglucosidase Alfa in participants with late-onset pompe disease after 145 weeks’ treatment: phase 3 COMET trial
2595 Efficacy and safety of avalglucosidase Alfa in participants with late-onset pompe disease after 145 weeks’ treatment: phase 3 COMET trial Open
Objectives Report efficacy/safety of avalglucosidase alfa (AVAL) in participants with late-onset Pompe disease in the extended-treatment period (ETP) of COMET (NCT02782741) at 145 weeks from treatment initiation. Methods Following a 49-wee…
View article: Ambroxol as Therapy for Gaucher Disease—Ambitious but Ambivalent
Ambroxol as Therapy for Gaucher Disease—Ambitious but Ambivalent Open
Xia Zhan, MM; Huiwen Zhang, MD, PhD; Gustavo H. B. Maegawa, MD, PhD; Yu Wang, BM; Xiaolan Gao, BM; Dengbin Wang, MD, PhD; Jinning Li, MD, PhD
View article: Reply to Mistry et al. The Two Substrate Reduction Therapies for Type 1 Gaucher Disease Are Not Equivalent. Comment on “Hughes et al. Switching between Enzyme Replacement Therapies and Substrate Reduction Therapies in Patients with Gaucher Disease: Data from the Gaucher Outcome Survey (GOS). J. Clin. Med. 2022, 11, 5158”
Reply to Mistry et al. The Two Substrate Reduction Therapies for Type 1 Gaucher Disease Are Not Equivalent. Comment on “Hughes et al. Switching between Enzyme Replacement Therapies and Substrate Reduction Therapies in Patients with Gaucher Disease: Data from the Gaucher Outcome Survey (GOS). J. Clin. Med. 2022, 11, 5158” Open
Thank you for allowing us the opportunity to respond to the commentary from Mistry and colleagues (Comment: The two substrate reduction therapies for type 1 Gaucher disease are not equivalent) [...]
View article: Efficacy and Safety of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease After 97 Weeks
Efficacy and Safety of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease After 97 Weeks Open
Importance In the previously reported Comparative Enzyme Replacement Trial With neoGAA Versus rhGAA (COMET) trial, avalglucosidase alfa treatment for 49 weeks showed clinically meaningful improvements in upright forced vital capacity (FVC)…