2020 will bring new clinical and therapeutic care to the MLD community.
When we started serving MLD Families in 1999 – two decades ago – we had no idea how challenging and time-consuming it would be to improve clinical care and disease altering therapies.
Along with your support, we’ve done a lot of heavy and consistent lifting these last 20 years.
If you read nothing else of this blog, please know that we gratefully THANK YOU and wish you and the MLD community a Happy New Year!!
Our Time is Now!
We look forward to reaping the benefits of these past two decades and our ongoing work during 2020 and the first couple of years in this new decade. During 2020, after many years of research, pilot studies, and clinical trials, families will start to benefit directly as this work becomes available to families to improve the quality of life for those with MLD.
NEWBORN SCREENING … Newborn screening is critical to identifying MLD at the earliest possible time – birth. These infants will have the greatest benefit from current and new disease-altering therapies.
We’ll see the launch of newborn screening in the first US public health system in parts of the state of New York as a precursor to a federal RUSP application, screening in more US states, and adding newborn screening to various international health systems too!
Teryn Suhr of MLD Foundation took the lead to develop the screening technique that is being used today. We’ve led in instituting powerful state NBS policy in California and Florida. We’ve hosted a Newborn Screening Summit for MLD experts and will host several more this year. We are continuing and expanding work as we are coordinate and manage a federal RUSP nomination as well as state-by-state & country-by-country MLD newborn screening implementation.
Early diagnosis through newborn screening and an expanding choice of therapies means each family can choose what is best for their child.
GENE THERAPY … gene therapy clinical trials have shown extraordinary results with pre-symptomatic children. Orchard Therapeutics filed with the EMA this past fall and should have their response – hopefully, an approval – around mid-year. We hope the US FDA review will start in early 2021 – maybe sooner!
Homology Medicines is seeing excellent pre-clinical research for its novel approach to gene therapy.
MLD Foundation is and has been working with at least four other pharmaceutical companies and research spinouts but cannot share more about their pre-clinical work (yet) due to NDA requirements. We speak regularly with startup companies and venture capital companies about the opportunities and challenges surrounding MLD.
And there is more …
STEM CELL TRANSPLANT … we are seeing ongoing improvements in MLD stem cell transplant, MLD’s only widely available therapy. In addition to the studies underway at various hospitals and academic institutions to reduce mortality, reduce chemotherapy, and improve outcomes for current MLD transplants, Magenta Therapeutics has a clinical trial studying cell-expansion and is working in the lab to eliminate chemotherapy as part of the transplant process.
BETTER DISEASE UNDERSTANDING … There are over 300 mutations known to cause MLD – that’s 90,000 potential mutation combinations. We only know the progression of a handful of those mutation pairs with decent certainty. MLD Foundation is actively engaged in a genotype-phenotype study to better help families make optimal informed quality of life clinical and therapeutic decisions.
We’re also active in two academic Natural History studies and operate an MLD Patient Powered Registry where MLD families are sharing their MLD journies so we can improve not only the medical care, but also improve the social, emotional, financial, public services, and creative family-driven/inspired quality of life strategies and decisions.
We have been meeting with the FDA since 2007 to expand their understanding of MLD and the therapeutical needs of the community. As we get closer to a regulatory filing we will both focus and expand the communications with the agency.
But not everything about living with MLD is medical …
COMPASSION AND SUPPORT FOR FAMILIES … We do our best to address the needs of MLD families in hands-on practical ways … some recent examples of direct engagement: we’ve helped several families get wheelchair vans for their loved ones, We’ve re-purposed medical equipment, provided logistical and financial support to help a family get same-day passports to get to Italy for gene therapy evaluation, helped overturn MEDICAID out of state therapy rejections, visited Italy to help a family enroll in the gene therapy, helped families make numerous therapy and non-therapy decisions, appeared at a deposition to help a family get in-state MEDICAID support for their family.
But perhaps the most impactful work we do is when we meet with families in person, at conferences, and over the phone. As we all know, an MLD diagnosis is just the start of a journey filled with decisions impacting all facets of life all while grieving the impact of MLD on a loved one and our parental/spousal expectations for life.
We spend hours on the phone with many of the newly diagnosed families helping them to learn about the disease, what to expect, clinical and therapeutic decisions, life decisions, and just being there with them as they digest an overwhelming amount of information and make decisions no parent or spouse should ever have to make.
And of course, we have host an annual MLD Family Conference™. This is where you can meet with dozens of other MLD families face to face with extended time for conversation. There are always MLD clinical and research experts to engage as well. In 2019 we launched the MLD Newborn Screening Academy. In 2020 we will continue that education and empowerment. MLD cannot reach the finish line without your direct efforts in your home state.
How Do We Do It?
We do all of this with your support … financial, time, energies, introductions to your connections and resources, “tips” about new ideas, approaches, and activities, and with the support of your thoughts and prayers.
Our philosophy has always been to try to meet researchers, companies, regulators, policy-makers, investors, other advocacy organizations, and most importantly, families, in person whenever possible. We visit them in their offices, labs, hospital rooms, and homes. We have found that we can have more intimate, detailed and informative conversations in person than via email or phone. We make it a point to share whatever information we can to connect the knowledge, needs, and experiences of one person with another … and sometimes that includes finances too! We’ve seen dramatic results and huge leverage with this strategy.
As you can see below, it’s a lot of nights on the road on your behalf. Life with MLD never stops so there are no days off … we are always honored to be working for you as our mobile phones and laptops travel with us.
In addition to face-to-face meetings, we spend extensive time in Washington DC with the FDA, NIH, other advocacy groups, and policy-makers. There are a half dozen or so key conferences and events each year. However, we don’t just attend those conferences, we also actively participate by presenting, booth displays to educate, posters to educate, and participating in panels to inspire.
MLD PATIENT POWERED REGISTRY … This is how our experiences are being gathered to impact researchers, clinicians regulators like the FDA, and policymakers. Unlike most natural history studies that only ask a small number of families a limited and focused set of disease-specific medical questions, the MLD PPR covers all aspects of life with MLD … from diagnosis to extended family, finances, clinical care, social services, and much much more.
As we gather more data we gain breadth, understanding, and perspective. All of this allows us to have a greater impact as we use the data. Researchers can request access to the de-identified data so they can efficiently advance their work.
We want all families to participate … no matter how recent or long ago your MLD experience is, no matter if your loved one is living or has passed, no matter what your home country is – everyone has MLD journey experiences to share and for us to learn from.
How Can You Help?
Reach back to us and let us know you are interested. Every one of you has skills that enhance or expand what we can do, knows people we don’t, and lives in a different part of the country or the globe.
Got a minute? 2 minutes? 60 minutes? We will be blessed by just a minute or two whenever you can spare them.
We recognize that your emotional and physical needs will ebb and flow as you navigate the MLD journey. We know that too, so we will always try to make sure you are supported and not overwhelmed.
Do you love social media? We have a special need for someone or multiple people to help us with our social media.
—
Dean Suhr
President
MLD Foundation
21345 Miles Drive
West Linn, OR 97068-2878 USA
1+503-656-4808 or 1-800-617-8387
http://MLDfoundation.org Serving the MLD Community since 2001We C.A.R.E.™ … We are the largest charity worldwide focused on MLD family Compassion, Awareness, Research and Education.