A5021956757- Metabolism and Genetic Disorders
- Genomics and Rare Diseases
- BRCA gene mutations in cancer
- Diet and metabolism studies
- Lysosomal Storage Disorders Research
- Folate and B Vitamins Research
- Amino Acid Enzymes and Metabolism
- Mitochondrial Function and Pathology
- Sphingolipid Metabolism and Signaling
- Biochemical and Molecular Research
- Congenital heart defects research
- Neonatal Health and Biochemistry
- Biomedical Research and Pathophysiology
- Genomic variations and chromosomal abnormalities
- Ethics in Clinical Research
- Chemokine receptors and signaling
- Immunodeficiency and Autoimmune Disorders
- RNA and protein synthesis mechanisms
- RNA modifications and cancer
- Erythrocyte Function and Pathophysiology
- Immune Response and Inflammation
- Cancer Genomics and Diagnostics
- Alcoholism and Thiamine Deficiency
- Blood disorders and treatments
- Genetics, Bioinformatics, and Biomedical Research
Icahn School of Medicine at Mount Sinai
2016-2025
University of Chile
2025
Center for Climate and Resilience Research
2025
Morelia Institute of Technology
2025
Tecnológico Nacional de México
2025
Memorial Healthcare System
2024
Montefiore Medical Center
2023
Albert Einstein College of Medicine
2023
Children's Hospital at Montefiore
2023
Hospital Militar Central
2023
The acronym WHIM refers to Warts, Hypogammaglobulinemia, Infections, and Myelokathexis. latter the retention of white cells in marrow, which becomes hypercellular. We have found approximately 20 examples syndrome literature under various designations; first are Zuelzer [1964] Krill et al. [1964]. Chronic noncyclic neutropenia hypercellular bone marrow represent defective release into peripheral stream (myelokathexis). hypermature neutrophils bizarre form. Condensed nuclei connected by long,...
Whole exome/genome sequencing (WES/WGS) is increasingly offered to ostensibly healthy individuals. Understanding the motivations and concerns of research participants seeking out personal WGS their preferences regarding return-of-results data sharing will help optimize protocols for WES/WGS. Baseline interviews including both qualitative quantitative components were conducted with (n=35) in HealthSeq project, a longitudinal cohort study individuals receiving results. Data recorded during...
Abstract Olipudase alfa, a recombinant human acid sphingomyelinase (ASM), is an enzyme replacement therapy for the treatment of nonneurologic manifestations deficiency (ASMD). This ongoing, open‐label, long‐term study (NCT02004704) assessed safety and efficacy olipudase alfa following 30 months in five adult patients with ASMD. There were no deaths, serious or severe events, discontinuations during treatment. The majority adverse events mild included headache, nausea, abdominal pain. No...
Olipudase alfa, a recombinant human acid sphingomyelinase (rhASM), is an investigational enzyme replacement therapy (ERT) for patients with ASM deficiency [ASMD; Niemann-Pick Disease (NPD) A and B]. This open-label phase 1b study assessed the safety tolerability of olipudase alfa using within-patient dose escalation to gradually debulk accumulated sphingomyelin mitigate rapid production metabolites, which can be toxic. Secondary objectives were pharmacokinetics, pharmacodynamics, exploratory...
To assess olipudase alfa enzyme replacement therapy for non-central nervous system manifestations of acid sphingomyelinase deficiency (ASMD) in children.
Arginase 1 Deficiency (ARG1-D) is a rare debilitating, progressive, inherited, metabolic disease characterized by marked increases in plasma arginine (pArg) and its metabolites, with increased morbidity, substantial reductions quality of life, premature mortality. Effective treatments that can lower improve clinical outcomes currently lacking. Pegzilarginase novel human arginase enzyme therapy. The present trial aimed to demonstrate efficacy pegzilarginase on pArg key mobility outcomes.
Abstract Glycerol phenylbutyrate is under development for treatment of urea cycle disorders (UCDs), rare inherited metabolic manifested by hyperammonemia and neurological impairment. We report the results a pivotal Phase 3, randomized, double-blind, crossover trial comparing ammonia control, assessed as 24-hour area curve (NH3-AUC0-24hr), pharmacokinetics during with glycerol versus sodium (NaPBA) in adult UCD patients combined four studies involving short- long-term ages 6 above. was...
Long-chain fatty acid oxidation disorders (LC-FAOD) can cause cardiac hypertrophy and cardiomyopathy, often presenting in infancy, typically leading to death or heart transplant despite ongoing treatment. Previous data on triheptanoin treatment of cardiomyopathy LC-FAOD suggested a clinical benefit function during acute failure. An additional series patients with critical emergencies associated was treated under emergency compassionate use protocols. Case reports from 10 (8 infants) moderate...
Olipudase alfa is a recombinant human acid sphingomyelinase (ASM) enzyme replacement therapy (ERT) for non-central-nervous-system manifestations of deficiency (ASMD). We report 2-year cumulative safety and efficacy data after olipudase treatment in 20 children (four adolescents [12-17 year], nine [6-11 seven infants/early child [1-5 year]) with baseline splenomegaly growth deficits who completed the 1-year ASCEND-Peds clinical trial (NCT02292654) continue to receive long-term study...