5 Biotechs Actively Developing MLD Therapies

2019 is going to be a very interesting and productive year for MLD therapy development. The trials for both gene therapy and enzyme replacement therapy will be expanded and for the first time are headed towards sites in the United States. A third biotech has publically announced MLD is an active development candidate.

We are getting ever closer to a NDA* filing for review (and hopefully approval) with the FDA and other global regulatory agencies.

Last December we met and strategized with four pharma/biotech companies who are actively working on MLD therapies. For now, we cannot name one of those companies or talk about what they are working on but we will tell you about the others plus a fifth parter we are also working with. There is a sixth company under wraps – but that’s for another time.

MLD Foundation spends considerable effort working with academic, institutional, and corporate researchers around the globe helping to advance MLD basic research, influence clinical trial design and strategies, and expediting clinical trial development and recruiting. We are equally active and aggressive in diagnostics, including newborn screening, and policy related to regulatory approval, access, and reimbursement (including pricing). Our view certainly starts in the USA, our home country, however, we have a global footprint ad active connections from Australia, through southeast Asia, and across Europe.

TAKEDA (SHIRE) – Enzyme Replacement Therapy (ERT)
The acquisition of Shire by Takeda was completed yesterday (Jan. 8th). Part of Takeda’s interest in Shire was its extensive rare disease portfolio, including its lysosomal disease portfolio where is where the MLD ERT program resides. The company name is now Takeda, but the team working on MLD remains intact and is expanding slightly. Shire will open the next phase of their ERT trial in April with global recruiting of 35 late infantile patients including 10 sites here in the USA.

Orchard TherapeuticsGene Therapy
Orchard Therapeutics gene therapy program has an active trial underway (also for late infantiles) working to validate the freezing of the genetically modified material for transport to and from the Italian processing facility. This process has been validated previously by another company so it’s likely it will work. Once that is complete we expect Orchard to open global sites for future phases of their clinical trials, including sites in the USA.

Homology MedicinesGene Therapy
Homology Medicines has been working on MLD for quite some time without much public fanfare. Their gene therapy therapeutic approach is being validated in PKU. MLD was just given the go-ahead by their Board as their lead central nervous system product and will head into IND-enabling* studies. Homology has just moved into a new facility and will be doing their gene editing on site in their new manufacturing facility.

Both Orchard and Homology had initial public offerings in the US last year that are enabling their programs to progress quickly.

And a fifth biotech partner, Armagen, continues their clinical trial on another lysosomal disease alongside pre-clinical basic science work on MLD.

We will be sharing more on each of these programs in the coming days and weeks including how they might affect each of your loved ones and how you can help them move forward.

* NDA – New Drug Application is the formal application for FDA review and approval which leads to widespread availability of a new therapy or drug.
* IND – Investigative New Drug is the terminology used by the FDA as they consider an application for clinical trials in humans.

Christmas Message – to the MLD Family

It’s Christmas all over the world  … and is usually my tradition, I share some personal thoughts with all of you, my MLD Family.


As many of you know, we lost our Darcee to MLD in 1995 and while Lindy is still with us, she is losing the MLD battle bit by bit.  Tonight Teryn, Lindy and I shared a full turkey dinner … a quiet and special time.  It took a long time for Lindy to chew and swallow.  As her eating abilities decline, we don’t know, but this might be the last time she will eat a formal meal like this.  Throughout the meal she was vocalizing to us … and a couple of times it seemed she was trying so hard to get 2 or 3 words out – but we could not understand them.  We don’t know what she was trying to say, but when we snuggle with her and speak to her she always smiles so we have an alternate means of communication!
So that left Teryn and I to do the talking. We chatted for bit and then circled around to a MLD family that we know who has one child in transplant, and a second who is headed to Milan today (Christmas day) for gene therapy. We have become very tightly engaged with this family having walked the journey after being able to meet them just 48 hours after thier first child was diagnosed.

Earlier tonight at Christmas eve church service we crossed paths with a friend we had not seen for several years.  She lost one of her children to SIDS many years ago … in December.  Which reminded us of another MLD family who is very close to us who lost their daughter to MLD in December, and of course our Darcee’s angel date in December 16th.

Christmas is a time of great joy for many children and families … but it is often mixed with the sadness of a loss of a loved one – either as an angel or perhaps just the continued progression of MLD.  For those of us who are Christians there is often conflict with the expectations of joy this time of year.

Life is complicated.  And with MLD, like so many other rare diseases, the path is uncertain, and full of both expected and unexpected surprises.  Some of those surprises knock us off our feet and take our breath away replacing it with despair and sadness … and others – often simple little things – bring smiles, happiness, contentment, and joy.
So wherever you are on the journey and whatever you are feeling … I can only share what works for me … its the joy of the greater MLD Family that loves and cares for each other.  We have personally met many of you, talked with others over the phone, shared personal email conversations. I am honored to know you and your MLD loved ones.  I am honored to be able to represent you as we do the work of MLD Foundation on behalf of each of you.

Please give a hug, hold a hand, speak kindly, and/or share a smile with all of those around you this holiday season.  Find a moment (or more) of joy – I know it’s in those around you.  And especially if you are struggling, reach out.  We are all here for you!
For those of you that lost a loved one this year, or anytime, and struggle with Christmas and the holidays, I dedicate the following song to you.  May its message of love and peace give you comfort …

Merry Christmas,
Dean (and Teryn & Lindy too!)         —

Listen to the song here:https://www.youtube.com/watch?v=0yFXfAGl17M

The story behind this Song:
“So last year, was a really tough year for us.  We lost our daughter, Annie.  People talk about grief, pain, fear, sorrow.  All of these words, can’t really describe how you feel when you really go through the loss of a loved one.  Even though we held onto hope, that we would somehow see her again, it was just a brutal time that we were going through, right at Christmas.  It felt pretty hard to celebrate.  
And then I found this song.  It was just a video on Facebook by this Christian artist and he was singing about the very struggle I was having.  As my wife and I listened to the words of this song, it expressed exactly what we were feeling. It also gave us what we needed at the time.  That was comfort.  So many people struggle with loss at this time of year, not just me.  If you are missing someone this Christmas, I want to dedicate this song to you.  I also want to dedicate it to Annie, my sweet Annie, who I miss very much.”-Jon Schmidt
Lyrics:I’m not going to lie.Christmas really hurts this timeCause you’re not here to celebrate with me.Tears fill my eyes.And memories flood my mind,As I place your ornament upon our tree.Although this year I have a broken heart,It gives me hope and joy as I remember where you are.  
Chorus:You’re with the Son of God.You’re with the Prince of Peace.You’re with the one we’re celebratingAnd that thought amazes me.Sometimes I still break down,Grieving that we’re apart,But the sweetest gift is knowing where you are.You’re with the Son of God.
Got your picture in a frame And a stocking with your name.Oh God knows it’s been hard letting go. And I can’t bring you back,But I’ll see you again.And oh, that thought is healing to my soul.I’ll miss making angels with you in the snow.I guess instead you will be singing with them All around God’s throne.
Chorus
And I know the Christmas seasonWas your favorite time of year.You loved to help us decorate our tree.But now that you’re with Jesus,I can’t imagine how you feelCause He’s the one who bled and diedUpon the tree for you and me.
Chorus
Credits: “The Sweetest Gift” written by Craig AvenProduced by Jon Schmidt and Chuck E. Myers “sea”Arranged by Jon Schmidt, Chuck Myers, Al van der Beek & Steven Sharp NelsonCraig Aven: VocalsJon Schmidt: PianoSteven Sharp Nelson: CelloPiano and vocals recorded by Jake Bowen at Big Idea StudiosCello recorded by Al van der Beek at TPG StudiosMastered by Al van der Beek
Video Produced and Filmed by Paul Anderson & Shaye ScottVideo Edited by Shaye Scott & Paul Anderson
#thepianoguys#pianocello

— 
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.

Your Giving Keeps Us Going – and directly helps families! #GivingTuesday

#GivingTuesday is Here!

Here in the US we celebrated Thanksgiving this past weekend.  It’s a time of family, thanks, and giving.  Most of us “gave” at the mall on Black Friday or online on Cyber Monday … but now it’s #GivingTuesday, an annual day where the world comes together to give.

November is MLD Foundation’s second busiest travel and meeting time … so much so that we have yet to decompress and summarize all that we have done. Your generous gifts are what enables us to work on your behalf!

We’ve Been Busy!

We’ll send out some summary postings over the next few weeks, but in the meantime, here are a few highlights of our last 60 days …

  • We are working with yet another drug company on a MLD therapy … and one therapy might see an FDA registration next year!
  • MLD gene therapy has a new owner, Orchard Therapeutics … and they are moving much more quickly than the prior owner.
  • The MLD newborn screening pilot study is making great progress and we are preparing to launch in another state in a few months.
  • Met with a pharma partner to help advance an ongoing genotype-phenotype study they have underway,  This will be important to try to determine what form of MLD progression is expected if a baby is diagnosed at birth … and potentially for those diagnosed with early symptoms too.
  • Attended the annual Rare Diseases and Orphan Products Breakthrough Summit sponsored by NORD.
  • Met with industry, BIO, and numerous advocacy organizations to drive collaboration on rare disease policy – especially for ACA and Orphan Drug Tax policy issues.
  • Met with another Pharma company who detailed to us some success and roadblocks for their therapy development.

And Most Importantly …

  • Continued our Compassion support for families … recently on the phone and in person in California, Maryland, Colorado, and even Perth Australia, and around the globe via email and social media. We’ve recently helped families get confirming diagnostics, make therapy decisions (including gene therapy, stem cell transplant, and no therapy), connect with clinical resources, obtain wheelchair vans and other equipment, and have been a source of direct financial support when unexpected expenses have arisen.

Please remember to give on #GivingTuesday to support MLD Foundation! There are no salaries paid here – all donations go directly to Compassion support for families and to advance MLD Research and Awareness.

http://mldfoundation.org/donations.php

 

Thank You!

Your Giving Keeps Us Going and directly helps families! #GivingTuesday

#GivingTuesday is Here!

Here in the US we celebrated Thanksgiving this past weekend.  It’s a time of family, thanks, and giving.  Most of us “gave” at the mall on Black Friday or online on Cyber Monday … but now it’s #GivingTuesday, an annual day where the world comes together to give.

November is MLD Foundation’s second busiest travel and meeting time … but this month we had an exceptionally busy time supporting families as well. Your generous gifts are what enables us to work on your behalf!

We’ve Been Busy!

We’ll send out some summary postings over the next few weeks, but in the meantime, here are a few highlights of our last 60 days …

  • We are working with yet another drug company on a MLD therapy … and one therapy might see an FDA registration next year!
  • MLD gene therapy has a new owner, Orchard Therapeutics … and they are moving much more quickly than the prior owner.
  • The MLD newborn screening pilot study is making great progress and we are preparing to launch in another state in a few months.
  • Met with a pharma partner to help advance an ongoing genotype-phenotype study they have underway,  This will be important to try to determine what form of MLD progression is expected if a baby is diagnosed at birth … and potentially for those diagnosed with early symptoms too.
  • Attended the annual Rare Diseases and Orphan Products Breakthrough Summit sponsored by NORD.
  • Met with industry, BIO, and numerous advocacy organizations to drive collaboration on rare disease policy – especially for ACA and Orphan Drug Tax policy issues.
  • Met with another Pharma company who detailed to us some success and roadblocks for their therapy development.

And Most Importantly …

  • Continued our Compassion support for families … recently on the phone and in person in California, Maryland, Colorado, and even Perth Australia, and around the globe via email and social media. We’ve recently helped families get confirming diagnostics, make therapy decisions (including gene therapy, stem cell transplant, and no therapy), connect with clinical resources, obtain wheelchair vans and other equipment, and have been a source of direct financial support when unexpected expenses have arisen.

Please remember to give on #GivingTuesday to support MLD Foundation! There are no salaries paid here – all donations go directly to Compassion support for families and to advance MLD Research and Awareness.

http://mldfoundation.org/donations.php

 

Thank You!

Always Thankful !!!

We are thankful …

  • for you,
  • your support,
  • and all of the MLD progress this year!

Teryn and I are so thankful for the wonderful people we meet as we both live with MLD (Lindy turned 38 this year!) and support families with MLD. We’ve met dozens of new families this year, many in person, as we answer questions and provide guidance on therapies and clinical care.  We’ve followed the journey with other families who lost their loved ones this year –while sad, it’s a great time of sharing and support. And, we are working with an even better and bigger team of researchers and biotech/pharma partners to get therapies to market!


We’ll provide more details on 2018’s highlights in our December update, but here are a few key items:

  • We are working with yet another drug company on a MLD therapy … and one therapy might see a FDA registration next year!
  • MLD gene therapy has a new owner, Orchard Therapeutics … and they are moving much more quickly than the prior owner.
  • The MLD newborn screening pilot study is making great progress and we are preparing to launch in another state in a few months.

If your inbox is anything like mine, it’s full of requests for support.  Nevertheless, we want to gently remind you that we need your support too! .. and we want to make it easier than ever, too.

Amazon Smile donations are FREE to YOU and are now easier than ever!  In the past, we have asked you to bookmark and start your shopping at  https://Smile.Amazon.com every time you shop at Amazon.  When you start there Amazon donates 0.5% of the value of your order to MLD Foundation at no cost to you.  While this still works, it turns out that most folks forget to start at the Smile page.  Now we have a couple of browser extensions you can load and they will automatically make sure we get credit for your order every time.  Simply load them once and shop!

Of course, a regular donation is always appreciated.

YOUR generous help makes our work possible. All of your donation goes to advance our We C.A.R.E.™ mission … no salaries are paid at MLD Foundation.

Thank You!


Safari Extension Installation Instructions.

Please note that we are working to make this process automated and IOS compatible. Right now it works only on laptops and desktops.

  1. Go to Safari->Preferences->Advanced
  2. Check “Show Develop menu in menu bar”
  3. Go to Safari->Show Extension Builder
  4. Click on the “+” on bottom left and choose “Add Extension…”
  5. Choose the KeepOnSmiling.safariextension folder inside the folder you just downloaded using the provided link (inside your Downloads folder).
  6. Choose “Install”

For more information visit MLDfoundation.org or email us at info@MLDfoundation.org

GSK Launches Phase 3 Cryopreserved Gene Therapy Clinical Trial

New Clinical Trial for MLD

GSK has just launched a Phase 3 clinical trial to study the efficacy of a cryopreserved formulation of their gene therapy, i.e. freezing the modified cells before transfusion.

Recruiting of pre-symptomatic late infantile and early juvenile patients will start immediately.

This study still requires patients to travel to Milano, Italy for their transplant – similar to how previous patients have accessed the San Rafaelle gene therapy.

Laying The Groundwork for Sites in Other Countries

Most notable is that this trial lays the groundwork for patients to eventually access the gene therapy in a local medical center outside of Italy.  Their cells will still be genetically modified in Italy – the cryopreservation allows for international transport of the modified cells.  In the USA, the next step would be a New Drug Application (NDA) to seek approval for offering the gene therapy in the USA.

Inclusion criteria can be found here. We are happy to discuss this trial and inclusion criteria with any of you tat think you may be eligible.  We know the Principal Investigator in Italy well and can help you with the referral process to assess eligibility.

Deeper Dive

For those of you wishing to dig  little deeper, here’s a good article about gene therapy cyropreservation  – in general, not necessary reflecting the the GSK/San Rafaelle flow or specific issues.

Please subscribe to this blog (button in the upper right part of this page – if you are reading this in email you are already subscribed!) to be kept up to date on this new Clinical Trial.

Your Giving Keeps Us Going! #GivingTuesday

#GivingTuesday is Here!

Here in the US we celebrated Thanksgiving this past weekend.  It’s a time of family, thanks, and giving.  Most of us “gave” at the mall on Black Friday or online on Cyber Monday … but now it’s #GivingTuesday, an annual day where the world comes together to give.

November is MLD Foundation’s second busiest travel and meeting time … so much so that we have yet to decompress and summarize all that we have done. Your generous gifts are what enables us to work on your behalf!

We’ve Been Busy!

We’ll send out some summary postings over the next few weeks, but in the meantime, here are a few highlights of our last 60 days …

  • Teryn was an invited panelist to a Social Security Administration event on SSI Compassionate Allowances where she presented the case to add juvenile and adult MLD to the CAL … and also insight on how SSA can be more effective n supporting families.
  • Attended the annual Rare Diseases and Orphan Products Breakthrough Summit sponsored by NORD.
  • Met with industry, BIO, and numerous advocacy organizations to drive collaboration on rare disease policy – especially for ACA and Orphan Drug Tax policy issues.
  • Met with another Pharma company who detailed to us, for the first time, the details of their internal development work on MLD.  That makes 3 companies who have active MLD projects plus at least two more we cannot name just yet.
  • Hosted a MLD Newborn Screening Summit in Philadelphia with some 40 experts attending to focus our collaborative efforts to get MLD newborn screening (NBS) going in the US and abroad.  The lab test results for the proposed screen are looking very good but there is much to do to get this ready for population-wide public health implementation.
  • Met with a well respected and very knowledgable doctor/researcher who is anxious to pursue more MLD work … and is an active advisor/consultant for pharma and biotech investors.
  • Working to bring two more strains of MLD mice to the US from Germany. MLD Foundation brought the first strain to the US in 2011.
  • Continued our Compassion support for families … on the phone, in person in Philadelphia and Boston, and around the globe via email and social media. We’ve recently helped families get confirming diagnostics, make therapy decisions, connect with clinical resources, obtain wheelchair vans and other equipment, and have been a source of direct financial support when unexpected expenses have arisen.
  • We even provided video and live streaming support for GLIA, the Global Leukodystrophy Initiative so leukodystrophy researchers can better collaborate.

Please remember to give on #GivingTuesday to support MLD Foundation! There are no salaries paid here – all donations go directly to Compassion support for families and to advance MLD Research and Awareness.

http://mldfoundation.org/donations.php

 

Thank You!

Minnesota at Rare Disease Week on the Hill

Last year when I read Kim Brown’s blog on her experience on the Hill for Rare Disease Week 2016, I told my husband, Trevis, that I wanted to go to Washington DC in 2017 and be an advocate for our precious son, Thomas, who left this earth to become an angel in October of 2015.  After seeing all of the emails from Dean and Teryn Suhr of MLD Foundation and after visiting in person with them and Christine Hoffman when they all made a trip to Minneapolis, I applied for a stipend through EveryLife Foundation and soon I found myself booking flights for DC.  I convinced my husband Trevis to come as well and the next thing we knew we were on our way to DC not really knowing what kind of experience that we would have.

We arrived into DC in the afternoon of Monday, February 27 and met up with Dean and Teryn Suhr and Eric and Christine Hoffman, fellow MLD parents, for the viewing of Rare Disease Documentary Screening of Up For Air at the United States Naval Heritage Center.  The movie was very nicely put together regarding an individual who was living with Cystic Fibrosis, and his journey through the disease.   After a late dinner and lots of travel, we were ready for bed as we knew we had another busy tomorrow learning about all of the policies that we were advocating for in our meetings on the Hill on Wednesday.

Tuesday morning we went to the day-long RDLA Legislative Conference, hoping they would teach us what to say to our Congress men and women on Wednesday.  When we got there we were inundated with a lot of information about current policies affecting the rare disease community.  Specifically they talked about what needed to be included in the Affordable Care Act Replacement Plan to not harm rare disease patients going forward, the Rare Disease Congressional Caucus and its importance, rationale for increased funding related to the National Institute of Health (NIH) and Federal Drug Administration (FDA), and the support of the OPEN ACT.  By the end of the day we felt prepared for our meetings with our Congress men and women on Wednesday.  In the afternoon we were able to go to a breakout session where they taught us how to tell our story which included our plug for why we needed their support within 90 seconds.  We also got to meet other constituents from the State of Minnesota as we would spend most of the day with them on Wednesday telling our story and making our asks of our state Legislatures.

That evening and during the day we were able to meet other MLD families as there were 14 of us representing MLD this year.  It was pretty amazing and let me say our MLD families are awesome, I might be a little biased!  We learned a lot on Tuesday and we were ready for the Hill on Wednesday.

Wednesday, March 1 we got up bright and early for breakfast before they sent us off to the Hill.  We met up with our MN team right after breakfast and headed to our first meeting.  We all had our 90 second elevator speech ready for our meetings with our specific “asks”.  Brett Robertson, a MLD dad, was in our group from MN, but even though we had similar stories our “asks” were very different, which made our meetings even more impactful.  Everyone in our group had their opportunity to present their story and articulate their “ask” to the congressional staffer and/or the Representative or Senator.  We were most interested in obtaining funding for the NIH and FDA, so that we can continue to search for cures for this awful disease.  At every meeting that we had, we left a letter that told Thomas’ Story in more detail along with our specific asks, which of course had pictures of our sweet boy.

As we moved from meeting to meeting we were lucky to get our own tour of the House side of the Capital with former Congressmen Brian Baird from the state of Washington.  Brian is a Board Member of the Pulmonary Fibrosis Advocates as his father passed away from this disease and Paul Fogelberg, who is from MN, the founder of Pulmonary Fibrosis Advocates was also in our group. Paul and Brian have been on the Hill many, many times advocating for rare diseases, which made our meetings even better as they both were able to add pertinent color to emphasize to the Staffer or the Congressmen important issues worthy of their consideration as it relates to the rare disease community.  Our team was a well-oiled machine by the time we went to our last meeting.

Before we headed back to our hotel room, we attended the Rare Artist Reception where we were able to view spectacular art created by artists with Rare Diseases.  We were amazed at the talent that we have in the rare disease community.  Each piece had a unique story, which made it even more amazing.

Overall Rare Disease Week on the Hill was incredible and truly life changing.  It was a very emotional couple of days, but knowing that we were advocating for not only our MLD families, but also the Rare Disease Community as a whole gave us a sense of accomplishment and us asking ourselves what more we can do for the rare disease community.  Thomas is no longer with us, so we now have to continue his legacy and to be his voice for all of the other kiddos and families in the United States that are fighting rare diseases.  We need to continue to fight for cures!  I would encourage all of the MLD families to start planning now to make it to Rare Disease Week on the Hill in 2018.  It was an amazing experience!

Laura & Trevis Alberts

Our first Rare Disease Week in DC


At the 2016 MLD Family Conference a conversation with Dean led to a decision to attend the Rare Disease week.
It was a first visit for wife Nancy and I to Rare Disease week and a pleasure for us to assist daughter Michelle in attending this year.

Last year she had planned to attend but her daughter Emily had been admitted to Boston Children’s Hospital so Kim Brown had to pave the way and the great job she did encouraged us . Having visited DC all the way back to 1968 and many times since, I can conclude that big government is definitely in vogue.
Our first challenge was finding the right hotel and transportation and as always Dean came to the rescue. We stayed in Arlington Hilton Garden Inn based on one caveat, they gave us a reservation that could be cancelled at the last minute, no charge. Michelle was a suspect attendee based on her stroke and cancer recovery status but she was able to recover sufficient to make the trip. We used the metro to transfer from the hotel to meetings and soon were comfortable with travel inside the beltway. My recommendation would be to use Uber (what a great innovation in free and fair trade) to avoid any walking and searching for buildings in the rain.

We attended the RDLA Legislative Conference on Tuesday, which was a series of presentations related to rare disease issues apart from one political speech in support of the ACA which is an oxymoron. Most of the presentation related to current issues of interest to the advocacy community. The room was packed with attendees and the presentations were helpful in preparing us for the next day.

We met and heard some people from NC who had significant experience in advocacy and the group that we participated in helped navigate us through the halls of the senate and congress during our representative visits on Wednesday. We were prepared that we would not get to visit face to face with our representatives and that senior staffers were equally important.

I did see a number of senators in the basement as they departed the subway to the capitol building including Elizabeth Warren who smiled at Michelle as she was being pushed by me but had an MA Rare Disease badge on. My disappointment at not seeing any senator or congressman in our office visits was more than countered by the magnificent scene on Tuesday’s TV appearance of Megan Crowley* in POTUS’ message to a joint session of Congress and the first time ever Presidential recognition of Rare Disease Day!

In summary, it was a great experience and one we will repeat again next year, Lord willing. For many years I have lamented my lack of involvement in the MLD lobby. Dean and Teryn have carried the baton alone too long. This year was a manifold increase from Kim Brown’s sole visit last year. I hope that next year we will have an MLD hotel block rate to encourage participation.

Maybe Trump will attend 😊

 

Farewell, Adios, Ciao, Au Revoir, Sayonara and Zàijiàn,

Tony Hodgson for Michelle Hodgson Pierce and Nancy Hodgson

* Megan Crowley, her father John and the rest of her family were featured in the 2010 film, Extraordinary Measures.

A Call for Rare Facts Unity & Consistency

It’s Our Opinion …

I presented this poster at the NIH’s Rare Disease Day event earlier this week (2/27/17).  In short, to maximize impact and credibility, we are asking all organizations – government, advocacy, industry/pharma, academia, etc. to be consistent with their public sharing of Rare Disease facts.

I realize that sometimes we must be very scientific about things, but for basic Rare Disease awareness, where there are no absolute numbers, we need to be consistent in order to be most credible and impactful.

We suggest that this should be our common voice with regard to Rare Disease Facts:

  • 7,000+ rare diseases
  • over 80% of Rare Diseases are genetic
  • 1 in 10 have a rare disease … over 30 million Americans, 350m worldwide
  • over 50% of which are children
  • 30% of those children will not live to see their 5th birthday
  • <5% of rare diseases have approved therapies
  • and as of early 2017 only a few hundred rare diseases have therapies … 95% do not have a therapy!

A good source

Global Genes presents a nice summary of these Rare Disease facts, and more,  on their Rare Disease Facts page.

* images source: Global Genes