The development of a core outcome set for GLB1-related Morquio B and juvenile or late onset GM1 gangliosidosis (MBD-GM1)

This project gathers the experiences and inputs from patients, caregivers and experts within the Morquio B and GM1 gangliosidosis community to create a core list of medical and quality-of-life outcomes. This list of outcomes will be used to create standardized measures for future clinical trials seeking to treat or improve the health of people with Morquio B and GM1 gangliosidosis. This is a continuation of the previous research projects on the natural history of Morquio B and GM1 supported by the Priest Family Fund for Morquio B. 

Currently, we are inviting members from the international community to join our focus group sessions to discuss their experiences with us, and to share what they consider to be meaningful outcomes for a clinical trial. For more information about the study and ways to contact the research team, please click on the icons below:

Study flyer      Resource document

Where can I sign up?

Find out if you're eligible.

Eligibility form


What are outcomes? 

Outcomes are observable or measurable symptoms and signs of a disease that help assess the effectiveness of a treatment. These can include a person’s feelings, their abilities (what they find easy or challenging to do), observable symptoms, and/or laboratory test results.

What is a Core Outcome Set (COS)?

A COS comprises 8 to10 disease-specific outcomes deemed important and relevant by experts. It is a consistent measurement tool for standardization across studies for a disease. A COS for Morquio B and GM1 gangliosidosis will help future studies investigate relevant key outcomes for these two disorders.

How will we be gathering patient meaningful outcomes from communities with Morquio B and GM1?

We will be conducting virtual focus groups with patients and parents/caregivers of individuals with Morquio B and GM1 gangliosidosis (Type II and Type III). Afterwards, these outcomes will be combined with those extracted from the research literature to create a comprehensive list of candidate outcomes. We aim to publish our findings with participants and the broader community.

What are focus groups? 

A focus group is a small group of 6 to 10 people led through an open discussion by a skilled moderator. Focus groups structured around a set of carefully predetermined questions — around 5 to 6. The discussion is free flowing, with participants bouncing ideas off of each other and generating different thoughts and experiences. The focus groups can either be virtual or in person, but for this study, they will be done virtually. People will be grouped based on their diagnosis, country of origin, and shared language. A focus group is NOT a debate forum, a group therapy session, or an opportunity to socialize or network with others. 

How are patients and caregivers expected to engage in the focus groups? 

The focus groups are an opportunity for patients and caregivers to share what is meaningful or important to them in their ongoing care and daily living with Morquio B or GM1 gangliosidosis (Type II and Type III). We encourage participants to draw on their personal experiences to share what they think should be studied and measured in clinical trials. Essentially, our team wants to capture any and all outcomes that are relevant to improving the quality of life of patients and their families.

How will the research team be making decisions about what to include in the core outcome set?

The list will go through several stages of pruning before being incorporated into our Delphi Survey where we will ask each participant to rate the importance of each outcome, from their perspective. These stages will help us determine which outcomes are most important to patients, parents/caregivers, and healthcare providers. As a final step, we will host a consensus meeting where a select group of experts will finalize the core outcome set list. These experts will consist of patients, parents/caregivers, and healthcare providers.