Related Experiment Video

Updated: Dec 28, 2025

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
10:16

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

Published on: December 20, 2017

8.4K

Enzyme replacement therapy desensitization in a child with infantile onset Pompe disease

Theresa Shu Wen Toh1, Kok Wee Chong2, Anne Eng Neo Goh2

  • 1Department of Paediatric Medicine, KK Women's and Children's Hospital, Singapore.

Asian Pacific Journal of Allergy and Immunology
|February 17, 2020
PubMed

Insights

Enzyme replacement therapy desensitisation is possible for Pompe disease patients with hypersensitivity reactions. A tailored, multi-step dose escalation protocol proved successful in a pediatric case.

Area of Science:

  • Rare diseases
  • Genetic disorders
  • Enzyme replacement therapy

Background:

  • Enzyme replacement therapy (ERT) is crucial for managing Pompe disease, reducing morbidity and mortality.
  • Hypersensitivity reactions to ERT are common, potentially disrupting treatment and impacting patient outcomes.

Observation:

  • A 9-year-old girl with infantile-onset Pompe disease developed hypersensitivity reactions to alglucosidase alfa ERT.
  • A multidisciplinary team, including allergists, geneticists, nurses, and pharmacists, collaborated to manage the patient's hypersensitivity.

Findings:

  • A successful desensitisation protocol was developed and implemented for the patient.
  • The protocol involved a multi-step, three-fold dose escalation of alglucosidase alfa.
  • This approach enabled the continuation of essential enzyme replacement therapy.

Implications:

  • This case demonstrates the feasibility of ERT desensitisation in patients with Pompe disease hypersensitivity.
  • Tailored desensitisation protocols are essential for optimizing safety and efficacy.
  • Personalized treatment strategies can improve long-term management and outcomes for patients with Pompe disease.
Abstract

More Related Videos

Conditional Reprogramming of Pediatric Human Esophageal Epithelial Cells for Use in Tissue Engineering and Disease Investigation10:15

Conditional Reprogramming of Pediatric Human Esophageal Epithelial Cells for Use in Tissue Engineering and Disease Investigation

Published on: March 22, 2017

7.2K
Chemical Inactivation of the E3 Ubiquitin Ligase Cereblon by Pomalidomide-based Homo-PROTACs10:44

Chemical Inactivation of the E3 Ubiquitin Ligase Cereblon by Pomalidomide-based Homo-PROTACs

Published on: May 15, 2019

13.6K

Related Concept Videos

Anticholinesterase Agents: Poisoning and Treatment01:26

Anticholinesterase Agents: Poisoning and Treatment

Anticholinesterases, also known as cholinesterase inhibitors, work by blocking the breakdown of acetylcholine, leading to its accumulation in the synaptic cleft. This accumulation indirectly enhances both muscarinic and nicotinic actions. These agents are classified as reversible or irreversible based on their mechanism of action.     
Irreversible agents form a strong bond with the cholinesterase enzyme, making it inactive. The breakdown of the phosphorylated enzyme is...
1.4K
Desensitization and Tachyphylaxis01:20

Desensitization and Tachyphylaxis

Tachyphylaxis is described as a rapid decrease in response to a drug after repeated or continuous administration of the same drug dose. It is a phenomenon where the body becomes less responsive to a particular substance or intervention over time, requiring higher doses or stronger interventions to achieve the same effect. It results from adaptive changes in the body's receptors, signaling pathways, or physiological processes that occur in response to prolonged exposure to a stimulus.
2.9K
Myasthenia Gravis: Overview and Treatment01:20

Myasthenia Gravis: Overview and Treatment

Myasthenia gravis is a neuromuscular transmission disorder characterized by weakness and increased fatigability of skeletal muscles. It is an autoimmune disease affecting approximately one in 2000 people, where antibodies against the α1 subunit of nicotinic acetylcholine receptors are produced.
These antibodies interfere with the function of the nicotinic receptors in three ways: by binding to the receptor and disrupting acetylcholine binding; by causing cross-linking of receptors which...
2.6K
Continuous Renal Replacement Therapy01:30

Continuous Renal Replacement Therapy

Continuous Renal Replacement Therapy, also known as CRRT, is a procedural treatment for acute kidney injury (AKI) that gradually removes uremic toxins and fluids while maintaining acid-base balance and stabilizing electrolytes. It is particularly useful for hemodynamically unstable patients. Unlike intermittent hemodialysis, which is faster, CRRT provides a gentler approach over 24 hours, closely mimicking the function of natural kidneys. However, CRRT is not ideal for patients with...
628
Parkinson's Disease: Treatment01:24

Parkinson's Disease: Treatment

Neurodegenerative disorders, such as Parkinson's Disease (PD), involve the gradual and irreversible destruction of neurons in particular brain areas. These disorders exhibit standard features like proteinopathies, selective vulnerability of some neurons, and an interaction of intrinsic properties, genetics, and environmental influences in neural injury.
Parkinson's Disease is primarily a result of the loss of dopaminergic neurons in the substantia nigra pars compacta. The cornerstone of...
876
Pharmacokinetics in Pediatric Patients: Drug Excretion01:26

Pharmacokinetics in Pediatric Patients: Drug Excretion

In pediatric medicine, understanding the renal function and drug elimination nuances is crucial for administering safe and effective treatments. Newborns, in particular, display markedly slower renal functions than adults, profoundly affecting how drugs are cleared from their bodies. This slower drug clearance requires clinicians to extend the dosing intervals for many medications to prevent drug accumulation and toxicity while ensuring therapeutic efficacy.One key area where these adjustments...
159