MLC REGISTRY

There is currently no cure for Megalencephalic Leukoencephalopathy with subcortical cysts (MLC). This is a degenerative rare disease, which, unlike the majority of other leukodystrophies, may have the potential to reverse some of its symptoms and improve the quality of life of our kids. But time is not on our side.  Current treatment strategies are supportive and aimed at improving the quality of life and managing common symptoms. There is an urgency to accelerate the research, move to clinical trials, and develop a cure for this rare disorder.

There are three processes that must occur before a treatment option can be licensed for use in our kids:

1. Understand the disease
2. Develop and test therapies
3. Create a Registry and Natural History Study 

Fortunately, we are already well on our way to accomplishing stage one and have begun to embark on the second stage. There are several researchers around the world in the early stages of preclinical trials pursuing promising treatment options. This is extremely exciting and brings with it, for the first time, a real sense of hope.    

A registry is a secure international database that contains all the relevant demographic, genetic and disease specific information of those affected by this disease. Our MLC Registry will be free to use and  accessible to MLC researchers, physicians and pharmaceutical companies.

• To get ready for clinical trials
• To help research
• To help develop drugs
• To assist decision-making by regulators and governments

• Insight into patient numbers, ages and demographics
• Insight into the natural disease course
• Insight into predictors of the disease course (e.g. gene mutation, head size, epilepsy, degree of white matter swelling, number and size of cysts)
• Validated outcome measures: clinical scales, MRI measures
• Find biomarkers (e.g. in blood, on MRI) that correlate with disease severity

• Answer a detailed questionnaire (assistance and translation to be provided).

• Clinical data from MRIs, EEGs, doctors’ reports
• Data reported by the families, including ages of developmental milestones and loss of functions

We know it can be tedious to answer so many questions, but providing clinicians with this information is important to understand the disease. Using this information clinicians can:

• Track how the disease progresses over time (called the natural disease course)
• Find measures that reflect disease severity (handicap scales), these can be used to determine differences between untreated and treated groups
• Find outcome measures that are relevant to patients and families
• Gather information needed for evaluating the value and effectiveness of treatments (called HTA assessments), this is important for governmental agencies to approve therapies
• Provide data for other types of research

• Names are not collected
• Data are pseudonymized
• Database is secure
• When data is requested, access is given only to necessary data
• Use of data only with a contract

• Set up a consortium of clinical MLC experts, which decides on data to be collected – this is already done!
• Open discussion with Alliance MLC – ongoing
• Develop a first registry site in Amsterdam – in process
• Develop similar registries in the centers of the other consortium members
• Communication between the registries for universal studies

• Start with Amsterdam database of currently ~265 patients
• Add patients at the other consortium member sites (India, Turkey, North and America, Europe etc)
• Alliance MLC will help to inform and motivate all of us families to participate in the registry
• Amsterdam site will consolidate all the data from the other locations
• Funding needed for data management and registry maintenance, beyond the PhD student

• The registry will be managed by a board, consisting of the MLC Clinical Consortium
• This board will be responsible for the development of the registry, decisions about projects, and will manage the use of and requests for the data
• Alliance MLC will advise and represent patient interests to the board

• Once data is collected, the registry can be shared with researchers and the industry (upon request)
• It is designed to anticipate and adapt to any future needs or developments, ensuring a long-lasting and secure database
• TIt will help improve our compliance with regulatory guidelines, accelerating the path to clinical trial readiness

In 2025.

This is a €400,000 project. In collaboration with Dr. Van der Knaap, two critical grants have been secure, one from For Wis(h)daom Foundation in The Netherlands (€200,000) and another from the Netherlands Organisation for Scientific Research (€100,000).  Along with initial contributions from families, we have raised €317,000. It is the responsibility of all of us, the affected families, our friends and colleagues to raise the remaining funds.

Fundraising doesn’t have to be complicated – small, local efforts can add up to make a big impact! Here are some creative ways you can raise funds for the MLC patient registry and natural history study:

• Host a Walk, Run, or Bike Challenge – Gather your friends, family, work colleagues and their network for a local walk, run, or bike ride, and encourage participants to collect pledges.
• Host a lunch or dinner Gala – Approach your child’s school and organize a gala event (dinner, entertainment raffles) to benefit MLC research. Find a restaurant or a hotel ro host it free of charge or at a highly discounted rate and charge a ticket so all proceeds go to MLC research. 
• Organize a Tournament– Host a charity tournament in your community! Whether it’s golf, cricket, football, tennis, or another sport, a friendly competition is a great way to raise funds. By charging an entry fee, seeking local sponsors, and adding fun extras like raffles you can make a meaningful impact while bringing people together.
• Trivia or Game Night Fundraiser – Partner with a local café/bar/community space or use your own home to host a trivia or board game night, with a small entry fee benefitting MLC research.

Every dollar raised brings us closer to our goal. If you are interested in fundraising but aren’t sure where to start, reach out – we’d love to support you!

We can help you plan and execute any fundraising ideas you have. Contact us and we will get started!

Participate in the Patients Registry.
Make a donation to help us fund this project.
If we do not do it, no one else will!