Morquio B

Accomplishments of Consortium Founders

Members of the MB Consortium have already contributed advances in the understanding and treatment of Morquio B and GM-1 gangliosidosis. (in alphabetical order)
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Prof. Michael Beck
from the Center for Lysosomal Storage Diseases, Children's Hospital of the Johannes Gutenberg University, Mainz, Germany has been engaged in the research of lysosomal storage diseases for many years and has been at the forefront of exploring treatment options such as enzyme replacement, small molecules and gene therapy.
Dr. Clara van Karnebeek
a clinician-scientist at the Biochemical Diseases Division at BC Children’s Hospital. Her expertise in multidisciplinary diagnostics and her interest in evidence based treatments of rare diseases is integral to developing registries and research databases to evaluate treatment outcomes for rare diseases. As pillars of the TIDE-BC initiative, she has initiated the PDE Registry and lysine restriction trials, as well as created the 1st ever WebApp to support the diagnostic protocol for treatable metabolic disorders causing intellectual disability.
Prof. Eduard Paschke
a biochemist and lab scientist at the Medical University of Graz. Beside the biochemical and genetic diagnosis of lysosomal diseases. In particular, the question, how a single gene, GLB1, can cause two different lysosomal storage diseases, GM1 and MBD, has been a carreer-long, constant factor of interest. His contributions include the initial biochemical characterization of ß-galactosidase activity in Morquio B disease and clinical genetics of the GLB1 (ß-galactosidase) gene and the resultant phenotypes of GM1 gangliosidosis and Morquio B disease. Recently progress was made in the use of pharmacological chaperones in cell lines that express Morquio B and GM-1 characteristics.
Prof. Sylvia Stöckler-Ipsiroglu
from the Biochemical Diseases Division at BC Children’s Hospital is a leading authority on rare diseases with a focus on treatable inborn errors of metabolism. She is the project leader of TIDE BC, a Collaborative Area of Innovation in the British Columbia medical research environment aiming to provide timely diagnosis and treatments for children with treatable forms of intellectual disability.

Our future plans

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Our goal is to bring together experts in pediatrics, genetics, neurology, radiology, orthopaedic surgery and biochemistry to work as a team to investigate how we can better understand and treat those born with mutations in the GLB1 gene leading to the development of Morquio B and late-onset GM-1 syndromes. Our first priority is to overcome the research constraint of the low numbers associated with rare diseases by populating our database with as many professionals and afflicted individuals as possible.
We intend to use the MB Registry professional and patient databases with the aim to foster more directed and coordinated efforts to provide accurate and timely diagnosis of these conditions, and to get a better understanding of long term outcomes and quality of life of these patients. Our database will serve as a reliable source of potential trial candidates when any new treatments are proposed such as small molecule, enzyme replacement or gene therapy.
In addition, we envisage clinicians and research groups being able to leverage their strengths and finding suitable complementary partners for the purpose of engaging in collaborative research, to find cures for these conditions, including efforts to secure funding and support for these endeavours.
The MB Registry will be regularly revised to reflect updates in diagnosis, new insights into pathophysiology, present and new treatments, as well as fostering the use of social media for the benefit of patients, families and health care researchers and providers.

Morquio B Disease

About this initiative

This project has been initiated by The Priest Family of Vancouver BC Canada, who have a 8 year old son with Morquio B disease. Their donation to the Canadian MPS Society has made this Morquio B registry possible. The projected is supported by TIDE BC infrastructure funds and the University of British Columbia.

Part of TIDE BC

The mission of TIDE BC, a care and research initiative, is to create an evidence-based Best Care Practice to enhance diagnosis and treatment of rare metabolic diseases. We all are motivated by the concept of treatable inborn errors of metabolism, the possibility to translate research into better care, striving to ensure that every child has access to early diagnosis and the best available treatment. International collaboration and patient & family participation are the pillars of our work. For more information on the TIDE BC project, please visit our website.