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Use of enzyme replacement therapy (Laronidase) before hematopoietic stem cell transplantation for mucopolysaccharidosis I: experience in 18 patients.

We describe the use of enzyme replacement therapy in conjunction with hematopoietic stem cell transplantation in 18 consecutive patients with severe mucopolysaccharidosis type I. The survival and engraftment rate was 89% overall and 93% for the 15 patients who received full-intensity conditioning.

Enzyme-replacement therapy in a 5-month-old boy with attenuated presymptomatic MPS I: 5-year follow-up.

Mucopolysaccharidosis type I (MPS I) is a progressive and multisystemic disease, even in its attenuated Hurler-Scheie and Scheie forms. Clinical trials of enzyme-replacement therapy in MPS I have shown clinical benefit in patients with considerable preexisting disease, but no data exist on the effect of beginning enzyme replacement before the onset of significant clinical signs of disease. Here we present the 5-year follow-up of a boy with attenuated MPS I who had laronidase therapy initiated at the age of 5 months and compare his clinical course to that of his older sister, who began treatmen

Postmortem studies on a patient with mucopolysaccharidosis type I: histopathological findings after one year of enzyme replacement therapy.

Deficiency of lysosomal α-L-iduronidase results in systemic accumulation of glycosaminoglycans (GAGs). Cardiac lesions due to accumulation of GAGs include hypertrophic cardiomyopathy, valvular insufficiency/stenosis, and coronary artery stenosis due to intimal proliferation. Cardiac dysfunction is one of the most common causes of death in patients with mucopolysaccharidosis type I (MPS I). Enzyme replacement therapy (ERT) with laronidase has shown clear effects in reduction of hepatomegaly and it has been unclear whether ERT could improve or prevent the cardiac lesions. Postmortem findings in

Eight-year clinical outcomes of long-term enzyme replacement therapy for 884 children with Gaucher disease type 1.

OBJECTIVE: The goal was to analyze the clinical responses to enzyme replacement therapy with alglucerase or imiglucerase in a large international cohort of children with Gaucher disease type 1. METHODS: Anonymized data from 884 children in the International Collaborative Gaucher Group Gaucher Registry were analyzed to determine the effects of long-term enzyme replacement therapy with alglucerase or imiglucerase on hematologic and visceral manifestations, linear growth, and skeletal disease. The parameters measured were hemoglobin levels, platelet counts, spleen and liver volumes, z scores for

Effect of spironolactone therapy on albuminuria in patients with type 2 diabetes treated with angiotensin-converting enzyme inhibitors.

OBJECTIVE: To investigate whether the addition of spironolactone to angiotensin-converting enzyme (ACE) inhibitors further decreases albuminuria in patients with type 2 diabetes mellitus (DM). METHODS: We conducted a prospective open-label trial in patients recruited at the Cleveland Clinic between February 2004 and November 2006. Patients with type 2 DM were eligible if they were older than 18 years of age, had been treated with any ACE inhibitor for longer than 1 month, and had a random urinary albumin to creatinine ratio (ACR) greater than 100 mg/g within 1 month of study entry. Based on s

Enzyme replacement therapy for Fabry disease: lessons from two alpha-galactosidase A orphan products and one FDA approval.

Two virtually identical products have been developed for enzyme replacement therapy for the treatment of Fabry disease, which is a rare and debilitating genetic disease caused by decreased activity of the lysosomal enzyme alpha-galactosidase A. Lack of this enzyme results in progressive tissue accumulation of globotriaosylceramide (GL-3), resulting in life-threatening renal, cardiac and cerebrovascular complications. Both enzyme replacement products, agalsidase alfa (Replagal; Transkaryotic Therapies, Cambridge, MA, USA) and agalsidase beta (Fabrazyme; Genzyme Corporation, Cambridge, MA, USA),

CNS involvement in Fabry disease: clinical and imaging studies before and after 12 months of enzyme replacement therapy.

We report the clinical and radiological central nervous system (CNS) findings of 8 Fabry disease patients, before (8/8) and after (7/8) 12 months of enzyme replacement therapy (ERT) with agalsidase-alpha. Eight biochemically proven Fabry disease patients (from four families) were included. Patients were evaluated at baseline and at regular intervals during 12 months of ERT. Evaluations included a thorough, standardized neurological examination, and magnetic resonance imaging (MRI) and angiography (MRA). Brain proton magnetic resonance spectroscopy (MRS) was also performed in 5/8 patients. The

Angiokeratoma corporis diffusum--Fabry disease: historical review from the original description to the introduction of enzyme replacement therapy.

This paper gives a brief historical overview of Fabry disease. First described in 1898 and called angiokeratoma corporis diffusum, a succession of observations and pioneering clinical research over the past 100 years has led to our present understanding of the disease. The major milestones during this time are described, as is the work that resulted in the successful introduction of enzyme replacement therapy.

Coordinate regulation of metabolic enzyme encoding genes during cardiac development and following carvedilol therapy in spontaneously hypertensive rats.

Fuel substrate utilization is highly regulated during cardiac development and with the onset of cardiac hypertrophy. Glucose and lactate are the predominant fuel substrates utilized during cardiac development. Postnatally, a switch occurs so that fatty acids become the chief energy substrate in the nonfed adult mammalian heart. A reversion back towards fetal energy metabolism occurs with the development of cardiac hypertrophy. To evaluate the role of this substrate preference switch in the development of cardiac hypertrophy, the molecular regulation directing these switches is being explored.

[Enzyme defects of the urea cycle in differential acute encephalopathy diagnosis in adulthood. Diagnosis and current therapy concepts].

Six enzyme defects of the urea cycle have been described. Ornithine transcarbamylase deficiency is the most frequent of these diseases. The cumulative frequency is 1:8000. Most patients become symptomatic in childhood, but onset of symptoms may occur later in childhood or even adulthood. The patients present with recurrent episodes of an unspecific acute encephalopathy, seizures and clouding of consciousness to a variable degree. Focal neurological signs such as hemiparesis, aphasia or ataxia may also occur. These episodes may be triggered by infection, protein overload or drugs. Diagnostic ar

Enzyme replacement therapy in Mucopolysaccharidosis VI: evidence for immune responses and altered efficacy of treatment in animal models.

Enzyme replacement therapy (ERT) can potentially result in an immunological response to the introduced protein. The immunological response by Mucopolysaccharidosis type VI (MPS VI) cats to recombinant human N-acetylgalactosamine 4-sulfatase (rh4S) ERT has been investigated. Plasma antibody titres to rh4S were detected in untreated MPS VI and normal control cats, but the antibody titres to rh4S were higher in ERT treated MPS VI cats. The reactivity by cats to rh4S did not appear to be just due to species cross reactivity, as plasma antibodies from normal control, MPS VI and MPS VI ERT cats reac

Frequent deletion in the methylthioadenosine phosphorylase gene in T-cell acute lymphoblastic leukemia: strategies for enzyme-targeted therapy.

Methylthioadenosine phosphorylase (MTAP), an enzyme essential for the salvage of adenine and methionine, is deficient in a variety of cancers, including acute lymphoblastic leukemia (ALL). Because the MTAP gene is located adjacent to the tumor-suppressor gene p16 on chromosome 9p21 and more than 60% of T-cell ALL (T-ALL) patients have deletion in the p16 gene, we examined the status of the MTAP gene in T-ALL patients. Quantitative polymerase chain reaction amplification of exon 8 of MTAP showed a deletion in 16 of 48 (33.3%) patients at diagnosis and in 13 of 33 (39.4%) patients at relapse. So

Pancreatic Enzyme Replacement Therapy (PERT) in Pancreatic Cancer: First U.S. Consensus Highlights on Dosing, Management, and Provider Inertia.

PURPOSE: Exocrine pancreatic insufficiency (EPI) is a highly prevalent, yet modifiable determinant of treatment tolerance in pancreatic cancer (PC). Despite its clinical significance, management remains inconsistent due to a lack of oncology-specific guidelines. This project aimed to establish the first U.S. multidisciplinary consensus to standardize pancreatic enzyme replacement therapy (PERT) dosing, education, and longitudinal management in pancreatic oncology. METHODS: A mixed-methods design was employed, integrating a parallel literature review, six virtual focus groups with patients and

Care Gaps in Pancreatic Enzyme Replacement Therapy: A Survey of Real-World Practice Patterns in the United States.

OBJECTIVES: To describe real-world clinical practice patterns among U.S.-based healthcare providers (HCPs) regarding the use of pancreatic enzyme replacement therapy (PERT) in the management of exocrine pancreatic insufficiency (EPI). METHODS: A cross-sectional, online, double-blinded survey was conducted among a panel of HCPs, including physicians, nurse practitioners, and physician assistants, with ≥3 years of experience treating EPI and recent PERT prescribing activity. The survey collected de-identified data on HCP demographics, aggregated patient characteristics, PERT prescribing pattern

Saline lavage alone prolongs drainage compared with intrapleural enzyme therapy in pleural infection: the SCOPE randomised controlled trial.

BACKGROUND: Intrapleural enzyme therapy (IET) is widely used for pleural infections, including complicated parapneumonic effusions and empyema; however, the role of saline lavage alone or in combination with IET remains uncertain. METHODS: The SCOPE trial was a two-centre, prospective, randomised superiority study designed to determine whether saline lavage alone or combined with IET was superior to IET alone in adults with pleural infection. Patients were randomised in a 1:1:1 ratio to saline lavage alone, saline lavage plus IET (urokinase and DNase) or IET alone. Patients and outcome assess…

Pediatric sleep-disordered breathing in Pompe disease in the era of enzyme replacement therapy: A retrospective cohort study.

Pompe disease is a lysosomal disorder associated with respiratory muscle weakness and a high risk of sleep-disordered breathing (SDB). The impact of enzyme replacement therapy (ERT) on respiratory parameters remains insufficiently analyzed. The aim of the study was to retrospectively review the polysomnographic/polygraphic (PSG/PG) characteristics and longitudinal trajectories of 22 children with Pompe disease in an era of universal access to ERT in France. Nineteen patients had Infantile-Onset Pompe disease (IOPD) and three had Late-Onset Pompe disease (LOPD). For the IOPD subgroup, the media

Increased intervals in enzyme replacement therapy for stable type 1 Gaucher disease: A non-inferiority sequential trial emulation.

OBJECTIVE: To compare the efficacy and safety of extended interval (Q3-4W) enzyme replacement therapy (ERT) versus standard biweekly (Q2W) ERT in clinically stable type 1 Gaucher disease (GD) patients. METHODS: We emulated a target trial with a sequential trial design, using data from the French Gaucher Disease Registry. Eligible patients were treated for ≥2 years biweekly without clinical events. Every 3 months, switchers to Q3-4W were matched to Q2W patients by age, sex, referral center follow-up, disease history (bone events, anemia, thrombocytopenia, splenectomy, and hepatosplenomegaly),

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… Enzyme therapy in type 1 Gaucher disease: comparative efficacy of mannose‐terminated glucocerebrosidase from natural and recombinant sources. Ann Intern Med. 1995;122(1):33–39. 8. Weinreb NJ, Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, et al. …

Pancreatic enzyme replacement therapy in advanced adenocarcinoma of the pancreas improved overall survival: a retrospective, single institution study.

BACKGROUND: Weight loss and exocrine pancreatic insufficiency are common in advanced pancreatic ductal adenocarcinoma (PDAC) and are associated with adverse outcomes. However, there is limited evidence on the impact of pancreatic enzyme replacement therapy (PERT) in patients with advanced PDAC. PATIENTS AND METHODS: We retrospectively studied 501 patients with advanced PDAC and exocrine pancreatic insufficiency from the Virginia Mason Pancreas Cancer Program Data Resource treated between 2010 and 2019 with first-line chemotherapy. Clinical outcomes were compared between those who received PER

Comment on "Pancreatic Enzyme Replacement Therapy in Pancreatic Exocrine Insufficiency-Real-World's Dosing and Effectiveness: A Systematic Review".

Pancreatic enzyme replacement therapy (PERT) is vital for managing pancreatic exocrine insufficiency (PEI), yet real-world use often deviates from guideline-recommended dosing. In response to the recent review by Kadaj-Lipka et al., we highlight several overlooked but critical factors influencing PERT effectiveness. While the review identifies underdosing trends, it does not address patient adherence or the timing of enzyme intake, both essential for therapeutic success. Clinical applicability was further limited by the inconsistent measurement of important nutritional outcomes like weight gai

Strategic Design and Development of Indole-Based Compounds as Potent Malic Enzyme 3 Inhibitors for Pancreatic Tumor Therapy.

Malic enzyme 3 (ME3) plays a critical role in the survival of SMAD4-/-/ME2-/- pancreatic ductal adenocarcinoma (PDAC) cells by supporting energy production and maintaining redox homeostasis. Therefore, targeting ME3 with small-molecule inhibitors presents a promising therapeutic strategy for PDAC patients with SMAD4/ME2 deletions. Building upon our previously developed ME3 inhibitor, a systematic exploration of the structure-activity relationship (SAR) was undertaken to identify novel chemotypes. This effort led to the discovery of a new series of indole-substituted piperazine carboxamides wit