Registration for our 2105 MLD Family Conference in Newark Delaware is underway and closes in just a couple of weeks. If you are a MLD Family we’re anxious to have you register.
The mission of the [CHOP Leukodystrophy CoE] center is “to deliver cutting-edge, integrated, multidisciplinary clinical care, diagnostic evaluation, and therapeutics to infants, children and youth with inherited white matter disease.”
Today we celebrate and recognize the 1 in 10 of us that have one of the 7,000+ rare diseases … over 30 million here in the US and 350M worldwide, what would be the world’s 3rd largest country (more populated than the US) if we all lived in one place. Less than 5% of the diseases have a formal therapy, over 50% of the diseases affect children, and 30% of those children will not live past the age of 5. In a world where doctors hear hooves and see horses, we are all zebras. A good infographic about Rare disease can be found here.
Recognizing this, MLD Foundation, both Teryn and I, spent the week in Washington DC for Rare Disease Week. I wanted to share some reflections and highlights of our week with you.
On the lighter side, we joined with others at the Carnegie Institute of Science for a reception and a screening of the film RARE. It was a time to catch up with many friends we have come to know through our work over the years … and to meet many more new advocates. There was a preview screening of a film called Banner on the Moon.
The social highlight of the week was not watching films, it was the RAREARTIST reception Thursday evening. I was able to talk to three of the artists. 13-year-old Cody Spader’s Therapy Dog shares his journey through surgery for complex seizures. 9-year-old Tegan Skye was dressed in a cute light blue dress and when I approached her to ask about her picture as the event started she was uncertain what to say … but once she became comfortable I learned that her father has Chordoma and needed to travel several thousand miles for specialized surgery. Their family dog had always comforted dad at home by laying in his lap, but the dog could not travel to the hospital. Little Tegan was very concerned that her dad be comforted so she drew this picture for her dad to put up in his hospital room while he recovered. Hearing her tell this story not only brought a tear to my eye, but it also reminded me that no family member is every un-affected by rare disease.
On the business side of things, I was asked back for the second year to be the Moderator and Host for some 250 advocates from all 50 states at RDLA’s all-day Legislative Conference. My job, besides keeping the event logistics running and on time (after 8 hours of sessions we ended just 90 seconds late), was my responsibility to welcome, include, educate, and engage the advocates so they had everything they needed to be powerful advocates during their Capitol Hill meetings the next day. My brief motivational kick off talk, What Do You See, was based on the idea that what others see in us is not the inadequacies we see when we look into the mirror. The advocates in that room needed to know they were leaders and perfectly capable of representing their specific disease communities, and when we divided 30 million Americans across each of them they were actually representing about a quarter of a million each! We spent the day learning from and interacting from panelists which include legislative aides and a chief of staff from the Hill, advocacy leaders, lobbying firms, and many more.
In amongst some 1200 researchers at the LDN/WORLD meeting on Lysosomal Storage Diseases a couple of weeks earlier we met a Pennsylvania mother with a child with a rare disease. She was passionate about learning about the research and supporting families with her daughter’s form of MPS. After several conversations over the course of a couple of days at that meeting, we invited her to DC to share some of her passion with her federal representatives. Registration was closed but we got her a place and onto the Hill day schedules. She wrote me a quick note of appreciation yesterday – I was so thrilled she was engaged, connected and now not alone! She joined the over 50% of the advocates at the conference who were 1st timers on the Hill.
On Wednesday we all put on our red RDLA scarfs and headed to meetings with our Congressmen and Congresswomen. In between meetings we generally had to do a lot of walking to get between offices and across the Capitol from the House office buildings to the Senate office buildings. We saw dozens of other red-scarved Rare Disease advocates heading opposite directions. The feedback from Advocates was about positive engagements as they discussed the 21st Century Cures Initiative, CURE (Compassionate Use), OPEN Act (Orphan Products), and Dormant Products /MODDERN (repurposing drugs). I can’t count the number of times we were stopped as advocates, 1st timers and returning “old” friends mentioned how empowered and productive they were being … all for all of you!
We finished the week with an all day meeting on Friday at the NIH. We heard from Francis Collins, Director of the NIH and a huge fan of Rare Diseases, the FDA, NCATS, and a very interesting panel of creative patient-advocates turned science-advocates including Jill Wood of Jonah’s Just Begun/Phoenix Nest, Matt Might of NGLY1.org, and Barbara Handelin of BioPontis Alliance. Discussions included basic science, policy, funding, biotech start-ups, novel collaborations, clinical trials, newborn screening, identifying undiagnosed and mis-diagnosed rare disease patients, and much more.
We are humbled to be able to represent you as participants and leaders in Washington DC, and around the world. Personally, our passion is always driven by MLD, but we know that a rising Rare Disease ocean benefits all diseases, including MLD.
You are special, you are RARE, but RARE is not rare, and you are not alone!
Have a good day.
Since a NHS is not a therapy, NHS participants have historically be giving time, energy, and effort, not to mention exposing their MLD loved ones to occasional invasive and potentially painful testing with limited feedback from the NHS study teams.
The openNHS Manifesto …
- recognizes the importance of NHS to better understand the disease and as a baseline to determine efficacy and obtain regulatory approval of new therapies.
- calls for the NHS study team to be well-informed about MLD and to give back to the participants ideas and insight into improving the participants quality of life and ongoing clinical care.
- calls for study sponsors to collaborate pre-clinically up front with other researchers and industry to design a study that meets the sponsor’s needs as well as reasonably anticipated future needs
- calls for study data to be open and accessible as raw data (in its entirety) to future researchers. The Manifesto recognizes that some limited time protection may be necessary to honor publishing and IP rights.
At the DC meeting there was extensive discussion and sharing of perspectives and concerns about openNHS from many points of view.
We are pleased to report the meeting was a success on all fronts! MLD Foundation, on behalf of those affected with MLD and the ongoing research community, was able to facilitate full support of the Manifesto and will be working with MLD collaborators in general, as well as Shire as sponsor of the current US late infantile NHS, to implement the Manifesto on current and future MLD Natural History Studies.
We look forward to sharing more specifics about what this means to MLD families and NHS study participants in the near future.
We will also be sharing our success with other advocacy groups with the hope that they too can call for openNHS in their communities.
The Enzyme Replacement Therapy HGT-1110 Phase I/II clinical trial has been fully recruited. Patients are participating from three continents; Europe, South America, and Australia.
The primary purpose of a Phase I/II clinical trial is to study safety and to establish a target dosage for further study.
The trial lasts 40-weeks so the last patient should complete their primary end point in March 2015 or thereabouts. Allowing 3-4 months for data analysis and review, there might be some results reported Summer 2015.
Shire is the trial sponsor.
Great Patient Focused Drug Development (PFDD) meeting at the FDA Tuesday discussing patients perspective on the neurological inborn errors of metabolism (IEM). Dean Suhr, president of the MLD Foundation, spoke on the second panel of the day and was able to both share and stir the pot a bit with regard to some of the patient perspectives on what we want in therapies, risk/benefit, access to trials in the US, compassionate/named access, patient reported outcomes, and consent. It’s not all about statistics and biochemistry – we have life to live!
Also met the Medical Officer at the FDA assigned to gene therapy and made sure she talked to Becky Vivian, a MLD mom who was there with her kids Eli and Ella showing the remarkable results from the Italian gene therapy clinical trial.
In the next couple of days we’ll be sharing how to add your voice to the formal written docket for this meeting. This is our opportunity for the MLD community to be heard so we hope for many of you to share.
A MLD grandmother was also present – we had a great talk. Turns out she is a researcher and has done some work at the NIH. She wants to work with us … and you … to write a paper on bone marrow transplant outcomes. We’ll have more to share on that soon too.
Added 6/18 … be sure to also visit http://PFDD.US for more information and to join the discussion there on this meeting.
On the 24th of this month we are convening a meeting of MLD researchers, industry, and academia in Washington DC to discuss openNHS, a project we hope starts with MLD but quickly expands to all rare diseases.
We’ve prepared and sent out an openNHS Manifesto to frame our discussions. Please read this document and let us know if you have any feedback, questions or suggestions.
You can read more about this project in this blog post.
A new Natural History Study (NHS) for MLD was launched a few weeks ago. We have taken the bold step of recommending that families NOT participate in this study … for now:
It is our belief that all natural history studies be OPEN access, meaning the study data be maximized by being made available to other researchers from other academic institutions and companies, and be as collaborative as possible. Properly designed studies will protect your privacy while maximizing the use of your data to facilitate longevity in MLD research.In our opinion this new NHS does not adequately meet this criteria. We are (February 2014) in discussions with the study sponsors to address these concerns.from http://mldfoundation.org/research-natural-history.html (see the detailed explanation near the bottom of this page)
- OPEN collaborative Natural History Studies … meaning that the study is designed collaboratively and all ofthe the collected RAW data is made available openly to all future researchers.
- MLD natural history studies are invasive and painful for the child who participates (nerve conduction and Lumbar Puncture/Spinal Taps). They also require a commitment that significant time and energy be put forth by families to make the repeat their visits to the study center knowing that they will not be receiving any therapy clinical trial access, i.e. they are giving to hopefully help the next generation of patients, not their own children.
- Today, the current practice is one company designs their own NHS, collects and silos the raw data, uses the data for their application with the FDA, and then publishes the highlights. Since only the summary data is published, the next company has to start from scratch with their own new study, engaging & testing more patients, etc. That requires twice as many patients, twice as much patient sacrifice, twice as much cost, and perhaps twice as much time. We don’t have a large enough community or enough time to double and triple dip – in fact, yesterday we lost another MLD patient, the 9th we know of this year.
- The results from natural history studies are necessary for a new FDA/EMA therapy approval applications,however, these patients are untreated so their data is independent of any particular therapy. Hence a NHS, just like developing a newborn screen, is a matter of common concern, not competitive advantage.
- We are asking that Natural History Studies be collaboratively designed, collaboratively implemented, and all RAW data (not just the published summaries) be available for any researcher to access for any future study. This collaborative approach will likely involve cost sharing as well so it’s complicated to set up but this approach allows us to gather the data as efficiently and as quickly as possible – while optimizing the “use” of the patient community.
- Give back to the patients/families with each NHS study visit … give the families information to take home after each visit to help them improve quality of life for their loved ones.
- The NHS study centers have experts in gathering the NHS data, however, while they may understand lysosomal disease or leukodystrophies in general, they are generally not currently providing any direct MLD clinical feedback to the patients.
- We already have a model for this in our community, the NDRD in Pittsburgh. In fact, families visit and re-visit the NDRD from literally across the country for the clinical expertise and are then recruited into the natural history studies. The NDRD has become a source of expertise and clinical support for many similar rare diseases. They give clinical recommendations to the family to improve day to day quality of life and also become a medical resource for the local treating care team in the family’s home town.
- We are asking that each study center be equipped to be a Center of Excellence for MLD where they can, and do, provide clinical expertise with each visit in addition to gathering the specific NHS data. This approach, as has been demonstrated by the NDRD, is a model that works for research and the families.
- We are working to develop a Standard of Care for MLD to further support these clinical Center of Excellence goals and the local treating physicians when they go back home.
MLD Foundation http://MLDfoundation.org
A very interesting question came up today on the MLD Family Discussion List™ (a private list we run for MLD primary caregivers). I thought it might inspire some thinking so I am sharing my answer here as well:
I have a question and I don’t know if anyone has an answer but I am wondering if anyone knows what truly stops this disease? Is it a normal enzyme level? Will the kids stop declining if the enzyme level stays normal? Are there other things that contribute to the stabilization of MLD??
Your first guess is actually correct – we really don’t know. It will take lots of years of careful study looking at extended clinical trial/Phase III data, combined with more basic science bench work, natural history, and lots of patient & clinic reported progression/outcome data to really understand this disease. And on top of a basic understanding we have hundreds of mutations to study. We’re not planning on shutting down the MLD Foundation anytime soon!
Has my Sunday morning coffee not kicked in? Am I reading this wrong? Tell me it’s not true …
- Alexion has an “effective therapy” for paroxysmal nocturnal haemoglobinuria
- New Zealand is proposing to decline access to therapy for its citizens … not because it does not work – they acknowledge it is an “effective therapy” – rather, they think it’s too expensive.
- Less than 5% of the over 7,000 rare diseases have therapies and they want to hold one of the few back !!!!!!????
Until this morning, I didn’t even know what paroxysmal nocturnal haemoglobinuria (Marchiafava-Micheli syndrome or PNH) was – all I need to know was they are fellow brothers and sisters with rare disease. We must come to their support.
Enough already! Well over 95% of the rare diseases are struggling to understand their disease and develop therapies … yet here we have a disease with a therapy that some bean counting bureaucrat says $$ x number of patients = too much. What they conveniently ignore in their public stance is that Alexion, like all rare disease drug companies, will work with countries that need help to offset the list price because they care about the patient. PHARMAC (New Zealand’s purchasing agency) you should care too!
We must not allow any more piecemeal incursions on the progress we are making towards therapies for all rare diseases. If your disease is lucky enough to have a therapy in the future – the PNH struggle could be yours. We must education and inform now!
So what can or should you do? read on – it won’t take much time… Continue reading