Morquio B and GM1 gangliosidosis study

Your Voice in Research: Presenting Our Findings from the 2025 Cure GM1 Conference

Our research team had the privilege of presenting our findings at the 2025 Cure GM1 Conference in Irvine, California. Dr. Sylvia Stockler shared the study’s preliminary findings from the literature and focus groups with caregivers. The results highlighted the lived experiences of families affected by GM1, revealing a real disconnect between outcomes prioritized in the literature and those that matter most to parents. This provides further evidence for the importance of including families’ voices and perspectives in the design of clinical trials and selection of meaningful outcomes.

We would like to extend a big thank you to our communities and families who volunteered their time and shared their personal stories with us. Your contributions are critical as we continue to work together to define relevant and consistent outcomes for clinical trials. This presentation marks the completion of the first phase of our project to develop a core outcome set for GM1 gangliosidosis and Morquio B.

We are pleased to share these findings and the presentation with our community. The recording of the conference can be freely accessed here. We have also included our presentation title and abstract that was submitted to the Cure GM1 Conference below.

Presentation title: Toward a Core Outcome Set for GM1: Patient and Caregiver Perspectives

Abstract:

Clinical trials aim to determine the safety and effectiveness of interventions by evaluating their impact on specific outcomes, but inconsistencies in defining and measuring these endpoints — and the historical exclusion of patient and caregiver perspectives — have limited the relevance and comparability of trial results. To address these challenges, our project uses the COMET (Core Outcome Measures in Effectiveness Trials) framework to develop a core outcome set (COS) for GM1 gangliosidosis and Morquio B syndrome: two extremely rare allelic lysosomal storage disorders caused by a deficiency in the beta-galactosidase enzyme and distinctive variants in the GLB1 gene. Both disorders currently lack standardized, patient-centered outcome measures. Our project follows a structured process including: a literature review, focus groups, Delphi survey, and a final consensus workshop with stakeholders and experts.

This presentation will focus on findings from the initial phase of the project, highlighting qualitative data from focus groups with predominantly Type II GM1 patients and caregivers and compares them to published medical literature to highlight key areas of alignment and divergence. Moreover, we will compare our findings to prior Cure GM1 caregiver studies as a foundation for integrating the lived experience of patients and families into research and clinical trial design, with the ultimate goal of promoting outcomes that are meaningful to the community.

This presentation will also serve as an invitation to participate in the next stages of COS development — specifically the Delphi survey and consensus workshop—and offers attendees an opportunity to help shape future clinical research through the lens of patient-meaningful outcomes. In involving the community at every phase of the COS development this project will foster meaningful connections within the community, elevate the voices of patients and caregivers, and prioritize lived experience to guide and accelerate drug development. Furthermore, it will reduce bias in clinical trial outcome selection and has the potential to promote a more efficient use of healthcare resources in the future.

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

We have completed recruitment and are currently analyzing participant and caregiver experiences from our focus groups. We are also working on Open Access manuscripts for each disease. The publications will ensure that all community members and researchers can have free access to our findings, methodologies, and de-identified data. The manuscripts will integrate findings from both our literature review and focus group discussions as well as present on the aggregate Patient/Caregiver Meaningful Outcomes and clinical outcomes that were gleaned from these two sources.

We will continue to share our progress as we transition to the next phase of the project, which is to develop and distribute Delphi surveys to the larger GM1 and Morquio B communities to rate and rank the outcomes from the first stage. For more information about the study and ways to contact the research team, please reach out to us at gm1cos@bcchr.ca.

FAQs

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.