Research

Morquio B Disease (MBD) is a rare genetic disorder with less than 50 patients known worldwide. Together with international experts in MBD and patient partners, Dr. Sylvia Stockler (Head Division Biochemical Diseases, BCCH) and Dr. Antony Cooper (Pediatric Limb Reconstruction surgeon) are conducting a prospective observational Natural History Study to determine measurable outcomes for the anticipated clinical trial of small chaperone molecule as a potential causative treatment for patients with MBD

Read official documentation on GLB1 gene mutations, including Morquio B.

Morquio B Disease: A Case Report

By Tara Gholamian, Harpreet Chhina, Sylvia Stockler, and Anthony Cooper

A detailed overview of the clinical, diagnostic, and therapeutic aspects of Morquio B disease, highlighting the challenges faced by patients and the importance of proactive interventions and comprehensive data collection to improve the management of this rare genetic disorder.

Published on 04 March 2024

Morquio-like dysostosis multiplex presenting with neuronopathic features is a distinct GLB1-related phenotype

By Sylvia Stockler-Ipsiroglu, Nahid Yazdanpanah, Mojgan Yazdanpanah, Marioara Moisa Popurs, Nataliya Yuskiv, Mara Lúcia Schmitz Ferreira Santos, Chong Ae Kim, Carolina Fischinger Moura de Souza, Charles Marques Lourenço, Carlos Eduardo Steiner, Andressa Federhen, Luciana Giugliani, Débora Maria Bastos Pereira, Luz Elena Durán-Carabali, Roberto Giugliani

 Published on 8 March 2021

Disease Characteristics and Treatment Options of a Distinct GLB1-Related Dysostosis Multiplex

By Nataliya Yuskiv, Katsumi Higaki and Sylvia Stockler-Ipsiroglu

Gain a comprehensive understanding of this rare genetic disorder from a clinical, biological and research perspective

Published on 30 November 2020

Clinical and genetic characteristics of a distinct GLB1-related dysostosis multiplex

By Iman S. Abumansour, Nataliya Yuskiv, Eduard Paschke, Sylvia Stockler-Ipsiroglu

 Published on 28 November 2019

Patient/caregiver survey: First insight into the natural course of a rare GLB1 related condition

Maria Bleier a, Nataliya Yuskiv a, Tina Priest b, Marioara Angela Moisa Popurs a, Sylvia Stockler-Ipsiroglu

 Published on September 2018

The MorquioBetter Project: Global patient registry for Morquio syndrome type B disease and late-onset GM1-gangliosidosis

George Alexander, Clara van Karnebeek, Sylvia Stöckler-Ipsiroglu, Eduard Paschke

 Published on February 2013

Dr. Stöckler is a pediatrician and biochemical (metabolic) geneticist with experience in the treatment of children with Morquio B Disease and GM1-gangliosidosis, and is especially interested in the development of core outcomes sets (COS) and patient meaningful outcomes (PMO) for rare disease conditions. She works at the British Columbia Children’s Hospital (University of British Columbia) as well as the Research Institute, Canada. Dr. Sylvia Stöckler is currently the principal investigator for the project aimed at developing a COS for Morquio B and GM1 gangliosidosis (juvenile and late-onset). In addition to Morquio B Disease, Dr. Stöckler has also aided in the development of a COS for creatine transporter deficiency (CTD) and guanidinoacetate methyltransferase (GAMT) deficiency.

Dr. Anthony Cooper is an Orthopaedic Surgeon and Head of the Department of Pediatric Orthopaedics at BC Children’s Hospital (BCCH) as well as a Clinical Associate Professor of Orthopaedics at the University of British Columbia (UBC).
Dr. Cooper treats a multitude of complex congenital and acquired limb deformities including Fibular Hemimelia, Tibial Hemimelia, Congenital Femoral Deficiency, Legg-Calve-Perthes (Perthes) Disease, Osteogenesis Imperfecta and Morquio-B. His clinical practice focuses on limb lengthening and reconstructive surgery. His research interests range from studies involving paediatric hip, lower limbs, feet, trauma, and bone tumours. By studying both clinical outcomes and patient reported outcomes, he investigates the effectiveness of treatments he uses in his clinic and to explores ways to improve the quality of life of his patients.
Dr. Cooper is the founder of the International Limb Differences Network (ILDN), an international network of healthcare professionals and researchers whose main objective is improving the quality of life for children with limb differences. Dr. Cooper has also co-lead the development of Limb-Q kids, an internationally applicable patient-reported outcome measure for children with lower limb differences.

Zahra Nasseri Moghaddam is a research assistant at the Biochemical Genetics Clinic at BC Children’s Hospital, with her research primarily focusing on rare diseases. In her capacity as a primary researcher, she has collaborated with the Association for Creatine Deficiencies (ACD) to develop a core outcome set (COS) for creatine transporter deficiency and guanidinoacetate methyltransferase deficiency. She is currently leading manuscript preparation for the study. She is also involved in several other projects related to metabolic and neurodevelopmental disorders. She is currently working on developing a COS for Morquio B and GM1 gangliosidosis.

Jasmine Li is a research assistant at the Biochemical Genetics Clinic at BC Children’s Hospital, with a special interest in rare diseases involving medical nutrition therapy. Jasmine is the leading researcher responsible for data collection, analysis and manuscript writing for a retrospective study investigating age-dependent phenylalanine tolerance. She was also the secondary researcher involved in developing (COS) for (CTD) and GAMT deficiency. Jasmine is also one of the core researchers working on the development of a COS for Morquio B and GM1 gangliosidosis.

Maria Bleier is a research assistant at the Biochemical Genetics Clinic at BC Children’s Hospital, with research topics focusing on rare disease progression over the lifespan. As one of the primary researchers for the Morquio B Patient Caregiver Survey, she was responsible for the research work and publication of this project. This survey was only possible with the continued collaboration, funding, and support from the MorquioBetter Project, Tina Priest and her family, as well as the international Morquio B Community. Maria will continue in her capacity as one of the researchers working on the development of a COS for Morquio B and GM1 gangliosidosis.