Morquio B

Morquio B Disease

The current genetic testing and research environment, coupled with the powerful tools of internet connectivity, allows us to overcome the rare disease nature of Morquio B and late-onset GM-1.


Morquio B Disease (MBD) or Mucopolysaccharidosis (MPS) type IV B is an extremely rare genetic disorder characterized by a number of physical changes that become evident as the child grows: the improper formation of the bones, the loosening of the ligaments and tendons, shortened stature and often, the eventual necessity for hip replacement, ankle fusion and critically, spinal disc fusion, especially in the neck region.

Morquio B disease is caused by very particular mutations in the gene encoding for the beta galactosidase enzyme (GLB1 gene),
which leads to a progressive accumulation of keratan sulphate in the cells and giving rise to the obvious effects on bone and connective tissue.
Other mutations on the GLB1 gene, will result in different disease patterns ranging from rapidly progressive infantile neurodegeneration, to a more attenuated disease pattern with a later onset of neurologic and cognitive problems.

Late-onset GM-1-gangliosidosis is one of the other rare diseases caused by mutations in the same GLB1 gene and often shows many of the same physical symptoms as MBD. Unlike MBD however, there are also neurologic and cognitive declines. This is an intriguing example of different mutations in the same gene giving rise to quite different symptoms and outcomes.

We can learn through studying the other

There is still much to learn about MBD and late-onset GM-1 as individual rare diseases. As both of these diseases arise from defects in the same gene, we can learn about both, by studying both.

There is already clinical and research expertise dedicated to one or the other disease. By combining efforts, there may be nuanced observations and techniques that may benefit the other and there may be opportunities to forge new, more expansive alliances.

How to obtain he information we need: the Registry

Our first task is to gather data relating to the gene mutations seen in MBD and late-onset GM-1 patients, and their corresponding physical and neurodevelopmental life history.
In addition the medical history of treatments will be gathered. We can accomplish this by securely gathering meaningful and correlated data from patients in a medically and scientifically meaningful way.
The Patient Registry
  1. establishing a patient registry that will allow us to establish the numbers and locations of patients and families with Morquio B and late-onset GM-1-gangliosidosis
  2. the development of a secure database that incorporates medical data taken from a detailed questionnaire provided by patients and their physicians
  3. facilitating the interaction between and amongst researchers and clinicians so that experiments and relevant research questions and directions can take place as a result of sufficient amount of patient data in the database and, in the case of new avenues of questioning and possible treatments, sufficient numbers of patients being available via the registry.

Future Research

Our patient registry will better determine correlations between specific mutations and their respective physiological and neurological presentations along with their long-term outcomes.
Patients will benefit by clinicians becoming aware of what treatments work best. Families and patients will benefit by being able to contribute directly to the clinicians and scientists working on the very disease that is of concern to them.
Some related diseases already have some experimental treatments such as gene therapy, enzyme replacement, and chaperone therapy. The better we can understand MBD and late-onset GM-1, the sooner we can leverage the work done in related disorders, or the sooner we can divine our own potential treatments.

Join our MB Consortium

We look forward to collaborating with clinicians, scientists and families around the world to improve health outcome of individuals affected by Morquio B and late-onset GM-1. If you are interested in joining us please fill out a short survey via the link below.

We will contact you once the research database is ready (after summer 2013) for entry of patient data.
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.
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.

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.
GLb1 Gene