Related Experiment Video
Updated: May 12, 2026
In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
Enzyme replacement therapy with galsulfase in 34 children younger than five years of age with MPS VI
Dafne D G Horovitz1, Tatiana S P C Magalhães, Angelina Acosta
1Centro de Genetica Medica, Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira/FIOCRUZ, Rio de Janeiro, RJ, Brazil. dafne@iff.fiocruz.br
Background:
Mucopolysaccharidosis type VI (MPS VI) is a progressive, chronic and multisystem lysosomal storage disease with a wide disease spectrum. Clinical and biochemical improvements have been reported for MPS VI patients on enzyme replacement therapy (ERT) with rhASB (recombinant human arylsulfatase B; galsulfase, Naglazyme®, BioMarin Pharmaceutical Inc.), making early diagnosis and intervention imperative for optimal patient outcomes. Few studies have included children younger than five years of age. This report describes 34 MPS VI patients that started treatment with galsulfase before five years of age.
Methods:
Data from patients who initiated treatment at <5 years of age were collected from patients' medical records. Baseline and follow-up assessments of common symptoms that led to diagnosis and that were used to evaluate disease progression and treatment efficacy were evaluated.
Results:
A significant negative correlation was seen with treatment with ERT and urinary GAG levels. Of those with baseline and follow-up growth data, 47% remained on their pre-treatment growth curve or moved to a higher percentile after treatment. Of the 9 patients with baseline and follow-up sleep studies, 5 remained unaffected and 1 patient initially with mild sleep apnea showed improvement. Data regarding cardiac, ophthalmic, central nervous system, hearing, surgical interventions and development are also reported. No patient discontinued treatment due to an adverse event and all that were treatment-emergent resolved.
Conclusions:
The prescribed dosage of 1mg/kg IV weekly with galsulfase ERT is shown to be safe and effective in slowing and/or improving certain aspects of the disease, although patients should be closely monitored for complications associated with the natural history of the disease, especially cardiac valve involvement and spinal cord compression. A long-term follow-up investigation of this group of children will provide further information on the benefits of early treatment as well as disease progression and treatment efficacy and safety in this young patient population.
Insights
Early enzyme replacement therapy (ERT) with galsulfase is safe and effective for Mucopolysaccharidosis type VI (MPS VI) in children under five. Treatment improved growth, urinary GAG levels, and some aspects of sleep apnea.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Mucopolysaccharidosis type VI (MPS VI) is a rare, progressive lysosomal storage disease impacting multiple organ systems.
- Early diagnosis and intervention are crucial for managing MPS VI, yet few studies focus on patients under five years old.
- Enzyme replacement therapy (ERT) with recombinant human arylsulfatase B (rhASB; galsulfase) has shown clinical and biochemical benefits.
Purpose of the Study:
- To evaluate the safety and efficacy of galsulfase ERT in 34 MPS VI patients initiating treatment before five years of age.
- To assess the impact of early galsulfase ERT on growth, urinary glycosaminoglycan (GAG) levels, and other disease manifestations.
- To report on cardiac, ophthalmic, central nervous system, hearing, surgical, and developmental outcomes in this pediatric cohort.
Main Methods:
- Retrospective data collection from medical records of 34 MPS VI patients treated with galsulfase before age five.
- Evaluation of baseline and follow-up assessments for growth, urinary GAG levels, sleep studies, and other clinical parameters.
- Analysis of adverse events and treatment discontinuation rates.
Main Results:
- A significant negative correlation was observed between galsulfase ERT and urinary GAG levels.
- 47% of patients maintained or improved their growth percentile on galsulfase ERT.
- Improvements were noted in sleep apnea for one patient, and no patients discontinued treatment due to adverse events.
Conclusions:
- Galsulfase ERT at 1mg/kg weekly is safe and effective in slowing/improving aspects of MPS VI in young children.
- Close monitoring for disease complications, particularly cardiac valve issues and spinal cord compression, is essential.
- Long-term follow-up is needed to further elucidate the benefits of early galsulfase ERT on disease progression and treatment outcomes.
More Related Videos
05:23Continuous Manual Exchange Transfusion for Patients with Sickle Cell Disease: An Efficient Method to Avoid Iron Overload
Published on: March 14, 2017
09:34Preparation of Plasma Membrane Vesicles from Bone Marrow Mesenchymal Stem Cells for Potential Cytoplasm Replacement Therapy
Published on: May 18, 2017
