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!

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 

Tissue Donations … The Ultimate Gift!

A MLD mom recently asked about donating her son’s brain and other tissue to research after he passed.  There is no more personal or profound donation that can be made to advance MLD research.  This post is a lightly edited copy of my response to this special MLD mom …

It’s always difficult to talk about tissue donations. It’s a very sensitive and personal topic. Our desire at MLD Foundation is that you be informed and consider tissue donation … it is critical that researchers have access to MLD tissues, including brains and other organs, to better their basic science understanding and to focus and expedite their work toward therapies.

UMB Brain & Tissue Bank at the University of Maryland

We currently recommend the UMB Brain & Tissue Bank at the University of Maryland.
We have visited them several times over the years, met with and queried their staff, and know first hand they treat every sample with the greatest respect. They have been a primary national tissue bank for the NIH (National Institutes of Health) for over 15 years and allow access by non-NIH researchers from academic institutions and pharma companies so donations them them are very accessible.

They do all of their work behind the scenes and while they prefer the donation paperwork to be signed and placed on file in advance with them and your local care team, they can often work quickly if things suddenly take a turn for the worse and they need to move more quickly.

 What does this cost?  Can I have a normal memorial and viewing?

There is no cost to your family. Taking tissue samples does not affect your ability to have any form of traditional memorial ceremony or viewings.

The paperwork is fairly simple. You can learn more, including registering online here: http://www.medschool.umaryland.edu/btbank/family/

Videos …

Here are two videos that may answer a few more questions and help convey the value of tissue donations:
–  Mystery Disorders of the Brain
–  About the Brain and Tissue Bank

More questions?

We are happy to help you along in this process. MLD tissue, especially brain tissue, is very valuable. Don’t worry that you do not live in the Maryland area – they can arrange for the tissue samples to be taken in nearly any city across the US.

If you have any other questions please let us know.

p.s. MLD Foundation is investigating using additional tissue banks, but the Univ. of MD is currently our primary choice for donations. Keeping as many samples as possible in one place as opposed to scattering them at multiple institutions makes the tissues a more accessible and valuable resource.

Capitol Hill, BIO, 21st Century Cures, Airbnb, and one more thing … Reflecting on my DC week

The first rule of blogging is to post good content on a regular basis.  The second is to keep your posts short, to the point and to not mix multiple topics into one post.  Oh boy, am I in trouble …
jetitup2016-11
My 6th trip to DC this year ended reflecting at 35,000′ with a Crater Lake Hazelnut Espresso Vodka courtesy of gold status on Alaska Airlines as I flew non-stop back home to Portland Friday evening.

I cratelakevodka admit I was stoked because of so many good people, connections, meetings, and events that I had experienced over the past three days.

And then I connected to Alaska’s WiFi …

Before I tell you what I learned from the world below,  let me share a few of the other highlights … each of which I will share much more about in coming posts.

13 Senate ofice meetings in one day

Jay Griessing of Biomarin set up and attended 14 Senate us-senate office meetings and one House meeting with me … 13 Senate meetings on Wednesday alone!  I have been to Senate offices many times over perhaps a decade – my prior max was 6 or 7 meetings. And better yet, because Congress is in recess (out campaigning) the two of us were very efficient as we meet with the staffers who do the real work on the Hill.

21st Century Cures is alive

curesnowpict We discussed 21st Century Cures, its history and what we hope to accomplish over the next few weeks during the lame duck Congressional session.  The short update … there is a lot of enthusiasm on both the Senate and House side to get #CURESnow passed.  It might be slimmed down a bit but we’ll take it.

Rare Policy

rarepolicy-home-pages-draft A missing voice was identified at 21st Century Cures strategic planning meeting held two weeks ago duringmy 5th trip to DC at the NORD Rare Disease Summit.
We need the voice of the patients, families, caregivers, and general public to push CURES to the finish line.  I am about 24 hours away from launching a platform that lets this audience contact Congress with 1-click in a much more impactful way … and gives those of us managing these programs a lot more ability to build on these grass-roots networks.  I spent three late nights last week communicating with a development team in India … and watching the Cubs historic win streamed to a small corner of my screen.


BIO Patient & Health Advocacy Summit

biosummit2016 I again attended this annual gathering of advocacy and industry. The #BIOsummit2016 sessions and particularly the networking was exceptionally rich this year.  BIO does great job of balancing the content and attendance so we all come away enriched and informed.  I spent time with dozens of people from multiple stakeholder communities … advocacy, industry, policy, organizational leadership, consultants, communications, etc.

Airbnb

airbnd-chic-14th-u airbnb-new-logo-1-1024x863 Ok , I’m adventuresome, frugal with MLD Foundation funds, and we’d reached our quota of room nights with Hilton family hotels to keep our status with them … so I made my first Airbnb reservation and stayed at a place described as Chic designer-rustic, 14th & U Neighborhood, Metro (if you sty there tell them Dean recommend you).  A 3rd floor room, a tiny European style bathroom with a sideways sink, WiFi and great hosts.  I’m no longer an Airbnb virgin.

And then

edengetsherwings201611 One email subject line whisked me from this whirlwind activity, progress, and networking and reminded me of the reality of why I’m doing this … Eden gets her wings”.  Beth is not a MLD carrier and Eden was healthy by all accounts when she was adopted from Ethiopia by her single mother, Beth.  7-year old Eden was finally free from MLD, but no longer with us.  Late infantile MLD starts to show its devastation around 18-24 months, just after Eden was brought to the US to live what was supposed to be a happy healthy life.


#FMLD fmldcar … which properly stands for Fighting MLD … but that’s not quite how I feel right now.  ;(

I love what I do … and yet I hate the reasons I ever had to start doing it.  MLD and Rare Disease are my passion and focus … but there are times where overall health and sometimes even bigger things are the concerns.

more to come …