The first ever MLC Scientific Symposium took place on February 22-23, 2024 hosted by Alliance MLC. Physicians and researchers around the world convened in Amsterdam for two days to discuss their research and decide the way forward.
All attendees were greatly appreciative of this unique opportunity to meet and learn from one another, spend time discussing their research and findings, and contemplate on the way forward. The PhD students were extremely motivated as was everyone else and that is a significant outcome of this symposium because they are the future of MLC research.
Treatment
Marla Chapleau and Christina Marouda shared their family’s experience living with MLC. Everyone left inspired and motivated to keep up their work and fight for the day that a treatment becomes a reality. In fact, when asked if that is an imaginable outcome everyone agreed that a treatment for MLC is a matter of time. It will most probably not reverse all symptoms but it will definitely improve the patients’ quality of life and stop its progression. Such a treatment can be used at an early age before the offset of the disease to prevent it from occurring. Researchers are already investigating potential drug-based therapies for MLC in preclinical models. Further, preclinical studies in gene therapy were presented, which researchers agreed was a promising avenue to keep exploring.
MLC Clinical Expert Consortium
The MLC Clinical Expert Consortium met in person for the first time. They are working on the rules and regulations of the Registry. Alliance MLC will post on the website and our Facebook group a summary of the Registry presentation in the coming days.
Research
Research areas of expansion were identified:
- Ion and water homeostasis
- Role of MLC1 in neurodevelopment
- Develop a unifying theme of how the 4 genes that cause MLC (MLC1, GlialCAM, GPRC5B, AQP4) relate to each other
- Investigate potential biomarkers (e.g. measurable events or tests that can predict disease stage and future disease course)
Registry
Most importantly, all researchers agreed that the creation of a patient registry and subsequent natural history studies were the most urgently needed areas of MLC research. More information on patient data would help to guide research on mouse and cell models. Further, there is an urgent need to be prepared for future clinical trials given the promising development of therapies. Registries and natural history studies can provide information on disease biomarkers, allowing us to predict disease course of MLC patients and thereby know which patients should receive which treatments and when, and help to accelerate the time of lengthy clinical trials.
We will keep you updated as the research progresses and let you know when it is time to start collecting data for the registry. Currently, the focus is on developing a secure database to store this essential information. All families MUST participate.
Next Symposiums
Our next symposium will be in 2-3 years potentially combined with a family conference. The idea is to expand it but not to the point that the MLC focus is diluted. We will invite researchers that focus in one or more of the areas of research outlined above with researchers that specialize in them but do not currently work on MLC specifically. Everyone would like to see more families in attendance in future symposiums. Our plan is to host the first family conference in India in the next 1-2 years.
