New therapies being investigated for treating ALD/AMN

An ALD Connect workgroup lead by Rachel Salzman, CSO The Stop ALD Foundation, and Kendrick Goss, Scientist II at bluebird bio provided an update at the ALD Connect/ULF meeting in Baltimore July 30 - August 3, 2014. A list of potential treatments were considered and narrowed down to the following:

  • Ampyra, a K+ Channel blocker, is said to improve nerve conduction, however no published data exists for ALD/AMN. It is approved for MS.
  • MD 1003, an anti-oxidant, is energy producing in neurons and repairs demyelination. Data on one AMN patient was reported and a multi-center AMN trial is being launched in Europe (not available in the US). Contact:
  • EPI-743, an anti-oxidant, shown to reduce oxidative stress in vitro. An AMN trial is close to being initiated in Italy. Contact: Keith Van Haren at
  • Natalizumab, an anti-integrin, is known to block lymphocyte infiltration in CNS. In-vitro data has been reported but not published. ALD experts have a strong interest in pursuing. It is approved for MS.
  • AAV, an in vivo gene therapy treatment. In-vitro and in-vivo mouse data has been shown to lower VLCFAs. More work is ongoing to further prepare for a human study (not prior to 2016).
  • Sobiterome, a thyroid agonist that up regulates ABCD2. In-vitro and in-vivo data has been reported but not published. A clinical study is under design.

Team members will continue to consider how to best move forward efforts.

Team members include: 

  • Joshua Bonkowsky, Univ of Utah
  • Nancy Braverman, McGill
  • Marie-Josee Duran, ELA
  • Florian Eichler, Mass General
  • Ali Fatemi, KKI
  • John Fink, Univ of Michigan
  • Kendrick Goss, bluebird bio
  • Stephan Kemp, Univ of Amsterdam
  • Troy Lund, Univ of Minnesota
  • Sanjay Magavi, Vertex
  • Alex McCampbell, Biogen Idec
  • Patricia Musolino, Mass General
  • Asif Paker, bluebird bio
  • Rachel Salzman, The Stop ALD Foundation
  • Keith Van Haren, Stanford. 
  • Inna Tzvang, ALD Connect

$44,000 raised for ALD at May 2014 UPenn Rare Disease Bike Ride!

On Saturday, May 3, 2014, the weather was gorgeous and nearly 20 riders on "Team ALD" participated in the first annual University of Pennsylvania Million Dollar Bike Ride for Rare Diseases.

See the photo gallery here.

  • ~20 riders for Team ALD.
  • 540 total riders in the event.
  • Team ALD raised $22,000 for ALD research and the University of Pennsylvania doubled that (since we met our $20,000 goal) and a total of $44,000 will be directed toward ALD research!
  • Overall, the event raised $1.4 million for rare disease research at the University of Pennsylvania!

Can't wait for the 2nd time the ride occurs in 2015!  Check here for more info.

Great legislation proposed for ALD Newborn Screening in California!

(Sacramento) -- Doctor Richard Pan, Democratic Assemblymember from Sacramento, has authored legislation to add Adrenoleukodystrophy, or ALD, to the list of genetic disorders all California infants are screened for when they're born. Dr. Pan says Assembly Bill 1559 can save a lifetime of debilitating problems for a child by properly diagnosing and treating ALD before its symptoms appear. Dr. Pan says other states already screen for ALD and a federal advisory committee has recommended ALD be added to the newborn screening list in all states. Here's more in this Assembly Access video.

HRSA's Secretary Advisory Committee (SAC) unanimously voted in favor of moving ALD newborn screening forward to an external evidence review committee

On January 16, HRSA's Secretary Advisory Committee (SAC) unanimously voted in favor of moving ALD newborn screening forward to an external evidence review committee. Dr Jerry Raymond, Pediatric Neurologist at University of Minnesota Medical Center, Fairview, and Dr. Amber Salzman, President of The Stop ALD Foundation, spoke at the meeting's public comment section. Over the next 2 years, the External Review Committee will review the disease, review the newborn screening test, understand what happens when a newborn would be identified to have ALD, and look at the therapies. A recommendation will then be made to the SAC whether ALD should be added to the Recommended Uniform Newborn Screening Panel (RUSP). The Stop ALD Foundation initiated the process to get ALD added to the RUSP starting September 2012 understanding this was a lengthy and complex procedure. We remain committed to ensuring that all newborns are screened for ALD so treatment can be applied early, saving countless children and families from suffering from a treatable disease that most often is diagnosed too late.

New York State to screen newborns for Adrenoleukodystrophy

New York State to screen newborns for Adrenoleukodystrophy

BY: Metro Source Staff | April 03, 2013

ALBANY - In approving the 2013 budget, Governor Cuomo has approved funding for Aidan’s Law, a law that adds Adrenoleukodystrophy (ALD) to New York’s Newborn Screening panel.

The law is named for Aidan Seeger, a boy from Brooklyn, NY who suffered from the disease. Seeger passed away from ALD in 2012 at seven years old. ALD is a Leukodystrophy, as is Krabbe, the disease that Jim Kelly’s son, Hunter, suffered from.

ALD is an inherited metabolic disorder, which affects the nervous system and is usually fatal if not treated before symptoms appear. This devastating disease has an estimated incidence of 1 in 17,000 in boys. If untreated, those affected lose all voluntary muscle function, as well as vision and hearing, and eventually die.  Read more >>

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October 2011 -- Stop ALD update on driving forward research on faster therapies for children in immediate need and research on anti-oxidant effectiveness on AMN symptoms.

Dear Stop ALD Foundation Supporter,

To date, the Foundation has played a key role in finding a therapy for ALD patients whose disease has just started to progress. Looking forward to the fourth quarter of 2011, we will turn our attention to two different and, for us, very significant goals:  (1) Driving forward a therapeutic approach for patients whose disease has progressed beyond the ability of current therapies to be effective, and (2) determining whether anti-oxidant treatments are of benefit to help treat AMN patients.

The gene therapy work which has been done to date works with the patient's own stem cells and, even when successful, takes at least 12 to 18 months to halt the disease. Because so many ALD families experience their first diagnosis after the disease has started to progress, their children do not have the luxury of 18 months of time before a successful therapy may be given a chance - they need a therapy which begins to work much more quickly in order to save these children. To address this critical need, we will work with physicians and scientists to investigate using a different gene therapy approach which targets brain cells and which can go into the brain immediately and stop the disease in a much shorter time frame. In order to progress this approach, we have to test this theory in laboratory mice, and our aim is to have this initiative launched in mice by year end. If this therapy proves to be successful in mice, we will immediately initiate the additional pre-clinical steps necessary before the therapy would be ready to be tested in humans. 

Looking to our second goal, in order to properly explore whether various anti-oxidant compounds may be effective in treating symptoms of AMN, the compounds will similarly need to be tested first in mice. Toward that end, and because AMN mice need to age before they exhibit AMN symptoms, we will work with a lab to begin breeding and aging the mice as the therapeutic agents are investigated and the approach is formally defined. Our goals is to launch these activities by year end as well.

As we pursue these two near-term primary goals, we of course will continue to support and work with others to find additional promising therapeutic approaches to ALD and AMN, to implement newborn screening in as many states as will permit it, to find ways to accelerate ongoing initiatives managed by others working in this field, and to continue to help families faced with managing ALD and AMN patients.

Please Include The Stop ALD Foundation in Your Giving
Please know that, more than ever, we deeply appreciate your support and contributions as we build on our current momentum and drive forward our progress. Donations can always be made online by visiting and clicking on Donate Now! or please mail your donation to:

 The Stop ALD Foundation
500 Jefferson Street
Suite 2000
Houston, Texas 77002-7371 

If you are interested in learning more about any of our specific development goals please feel free to contact me directly at or call me at +1.610.659.1098.    

We look forward to continuing to report on our progress and, in the interim, offer our heartfelt gratitude and best wishes.

February 2011 Stop ALD Foundation 2010 Accomplishments and 2011 Plans

The Stop ALD Foundation (SALD) had a very busy and productive 2010 which is reflected in the advances we wish to share with you as we pursue our ongoing mission to improve therapies and develop cures for adrenoleukodystrophy (ALD). Tragically, ALD continues to be a dreadful diagnosis, often accompanied by a fatal course in young boys and severe debilitation in adult men. We are working hard to create the possibility of a different result.

I'd like to share some of our highlights from 2010.

In terms of the Foundation's long-term commitment to progressing gene therapy in ALD, we previously reported on the landmark scientific paper published late last year

by our partners in this novel clinical trial. The clinical trial continues, and we are pleased to share that two more children have been treated! At the annual American Society of Cell & Gene Therapy meeting, which was held in Washington, D.C. this past May, Dr. Nathalie Cartier reported updated results in three boys. These children were selected for gene therapy because they had no donor match and were otherwise facing decline leading to death. At the end of her very well received presentation she publicly acknowledged the important role that SALD has played in this project.

We should all feel grateful that these boys, whose prognoses were uniformly fatal, are all back with their families and attending school. Our donors and supporters played a crucial role in rescuing these children. Savor this. It isn't every day that one can literally save a life.

The gene therapy program continues to grow and the academic success has been leveraged into the biotechnology industry. SALD actively advocates on behalf of this initiative with regulatory agencies. In December of 2010, the Foundation attended a series of FDA Advisory Committee hearings where issues critical to our mission were being reviewed. We are fortunate that members of this expert committee are well aware of the ALD gene therapy strategy, and our interactions with them have uniformly been positive.

Our Foundation has also been active in advancing research into treatments foradrenomyeloneuropathy (AMN). We have co-sponsored a clinical trial based in The Netherlands in which men afflicted with AMN were enrolled and treated with bezofibrate, a medicine which has been approved and used in treating disorders other than ALD and AMN. This drug is being administered in increasing doses and the subsequent levels of VLCFAs will be measured. This study has moved forward with extreme efficiency thanks to the dedication of the Dutch team of investigators. We are pleased that when they encountered promising data in the lab they approached us for financial sponsorship. Our thorough, yet fully vetted and streamlined process was able to negotiate terms quickly. We look forward to receiving top line data in the first months of 2011. If the results are promising the Dutch medical system will take over sponsorship of a much larger multi million dollar trial.

In addition to the bezofibrate study, SALD has also been active in assembling an international team that will address AMN from another angle. Preliminary investigations into the effect of oxidative stress have been met with promising results in mouse models. Following oral therapy affected mice have demonstrated marked improvement in tests evaluating their motor skills. We would like to follow up on these laboratory data with a trial designed for patients. This will require a coordinated multidisciplinary effort and a development paradigm which is SALD's specialty.

These exciting developments are just but a few of the highlights of 2010. Due to your continued and steady support, SALD has been able to be a key contributor to several innovative and worthy efforts. This has resulted in medical interventions which would not otherwise be possible. In the case of the three boys who received gene therapy, their families would now be facing terminal and end-of-life decisions for their beloved children, rather than celebrating the encouraging outcomes which they are now experiencing. We hope the same will hold true for the fourth boy who was recently treated, but for whom it is still too early to know results.

Leading The Stop ALD Foundation is a profound privilege and a great responsibility that continues to motivate me deeply on a daily basis. I reflect that my nephew, Oliver, of beloved memory, would have been starting college this year if not for ALD. I do not want any more children to be robbed of their futures. I do not want any more parents to helplessly witness the decline of their sons.

Our important work continues thanks to your dedicated and generous support. Due to the rarity of this disease and the current economic climate, it is only too easy for the desperate needs of those suffering from ALD to be ignored. The affected families who are relying on us, however, have no options. Let us not let them down.

Please Include The Stop ALD Foundation in Your Giving
Please know that, more than ever, we deeply appreciate your support and contributions as we build on our current momentum and drive forward our progress. Donations can always be made online by visiting and clicking on Donate Now! or please mail your donation to:

The Stop ALD Foundation
500 Jefferson Street
Suite 2000
Houston, Texas 77002-7371 

If you are interested in learning more about any of our specific development goals please feel free to contact me directly at or call me at +1.610.659.1098.    

We look forward to continuing to report on our progress and, in the interim, offer our heartfelt gratitude and best wishes.

December 2009 Stop ALD Foundation Update and 2010 Goals

The Stop ALD Foundation Annual Update

December 2009
You helped us achieve a BREAKTHROUGH in 2009!  What's next for 2010? 


What great news we were able to deliver in 2009!  While working hard in many areas, we are, by far, most proud of our groundbreaking international success in the field of gene therapy.  This is the first time ever that a fatal brain disease has been successfully treated by gene therapy, and it was ALD!  Our published gene therapy success made news around the world in the scientific and mainstream press.  In case you have not seen the details, we'll give a recap below.  With your generosity and our hard work, we pulled off what most foundations only dream of -- delivering a safe and effective therapy for a disease. There is still critically important work ahead for 2010, and we'll tell you about our goals and how we would greatly appreciate your continued support. 

Gene therapy breakthrough!

[Science on the gene therapy for ALD article] On November 5, 2009, the two French researchers with whom we have worked closely had their pioneering findings published in Science.  In this groundbreaking paper, they describe two boys with ALD who received gene therapy treatment and consequently had their brain disease progression halted, and some damage was partially reversed.

This biomedical advance is significant beyond the realm of ALD.  We would like to extend our heartfelt thanks and gratitude to you, our supporters and generous donors.  By delivering this new treatment, you have helped to make a difference in the lives of children and adults suffering from ALD and AMN globally. In addition, the approaches utilized are applicable in the treatment of many other diseases, such as metachromatic leukodystrophy (MLD), Wiskott-Aldrich Syndrome (WAS), Hurler Syndrome, Krabbe disease, and more. You should be VERY proud.

Goals for 2010

While we are pleased with our achievements to date, this success has only served to motivate us to expand and refine the next generation of diagnostics and therapies.   The knowledge and data acquired to this point have provided a solid and scientifically reliable groundwork for launching and focusing our next series of efforts.
Our goals for 2010 include:

Leverage ongoing efforts to drive forward newborn screening for ALD.Apply the gene therapy approach to a broader population, e.g. adults.Optimize the gene therapy approach to minimize use of toxic medications during the gene therapy procedure.
Drive approaches providing options for advanced-stage ALD boys who are diagnosed too late to benefit from a stem cell transplant or gene therapy.  Several cell therapies and drug options are being considered.Drive approaches to provide options for sufferers of AMN.  Animal models are being used to examine the application of antioxidants.Continue to support families who are stricken by ALD and need help navigating the way forward.

Please Include The Stop ALD Foundation in Your Year-End Giving
We realize that times are still economically challenging for all of us.  Please know that, more than ever, we deeply appreciate your support and contributions as we build on our current momentum and drive forward our progress.  Donations can always be made online by visiting and clicking on Donate Now! or please mail your donation to:

The Stop ALD Foundation
500 Jefferson Street
Suite 2000
Houston, Texas 77002-7371

If you are interested in learning more about any of our specific development goals please feel free to contact me directly at or call me at +1.610.659.1098.    

We look forward to continuing to report on our progress and, in the interim, offer our heartfelt gratitude and best wishes to you for a healthy and happy new year!

Gene Therapy Success in Severe Brain Disorder Applauded by The Stop ALD Foundation

Houston, TX -- November 5, 2009 -- The Stop ALD Foundation today applauded the investigators who are reporting in the current issue of Science successful results from the pioneering use of gene therapy for adrenoleukodystrophy (ALD), a potentially crippling and fatal brain disorder in young boys.

As an organization founded by families affected by ALD, we know too well the ravages that this disorder inflicts on its victims and the heartbreak it brings to those who love them, said Amber Salzman, president of The Stop ALD Foundation. We are deeply thankful to Drs. Cartier and Aubourg and the many other scientists and physicians whose achievement is reported in Science, and we look forward to continuing to work with them to build on their success. Their pioneering work in gene therapy brings hope to those stricken not only by ALD but many other serious diseases as well.

The Stop ALD Foundation has been involved in this gene therapy initiative since 2001 by providing direct funding and by bringing together parties in the US and Europe who provided critical scientific and biomedical contributions. Given the encouraging results reported in Science, the foundation will continue to stay involved, assisting in driving forward a larger, international study including U.S. patients. It is anticipated that this next study may be open to a more diverse ALD population, including adult men who suffer from the same genetic disorder.

The promise of gene therapy in ALD is that it will enable each patient to serve as his own stem cell donor, obviating the need to find matching donors and avoiding the serious risks and sometimes lethal side effects of stem cell transplantation. The paper in Science details the cases of two boys who underwent gene therapy at Saint Vincent de Paul Hospital in Paris. The boys were born with a genetic mutation that by the time of their hospital admission had already resulted in early brain lesions. Their therapy began with removal of some of their own bone marrow stem cells. These genetically defective cells were then corrected via a laboratory procedure whereby functioning genes were inserted. Last, the treated cells were injected back into the young patients. This therapy arrested the progression of ALD, and over two years later the boys conditions have stabilized. No adverse effects of the gene therapy have been noted to date.

I know the urgency of boys stricken by ALD and the pain of their parents, said Eve Lapin, a founding member of The Stop ALD Foundation. One of her sons died of ALD, and another is confined to a wheelchair as a consequence of graft versus host disease following a stem cell transplant. These gene therapy results are exciting, but they are just the beginning. Time is of the essence in finding the safest and most effective therapies. Every day more children become afflicted with ALD, and their chances of surviving depend on the success of trials such as this.

About ALD
Adrenoleukodystrophy (ALD) is a genetic disorder estimated to affect 1 in 18,000 people. Its most devastating form destroys the myelin sheath of the brain's neurons generally affecting boys between the ages of four and ten years. At first they show behavioral problems, such as withdrawal or difficulty concentrating commonly misdiagnosed as attention deficit disorder (ADD) or attention deficit hyperactivity disorder (ADHD). Gradually their symptoms grow worse and may include blindness, deafness, seizures, loss of muscle control, and progressive dementia. This relentless decline leads to permanent disability and death within two to five years from diagnosis. Accurate and early diagnosis is essential to an opportunity for effective therapy. The disorder can also affect adults, women as well as men, in which case it is known as adrenomyeloneuropathy (AMN). AMN tends to be less severe in adults than in boys, though some men also develop fatal demyelination in the brain.

About The Stop ALD Foundation
The Stop ALD Foundation is a registered not-for-profit medical research organization that drives research into new therapies and advances understanding of ALD. More information is available at

Citation: Hematopoietic Stem Cell Gene Therapy with a Lentiviral Vector in X-Linked Adrenoleukodystrophy. By Nathalie Cartier, Salima Hacein-Bey-Abina, Cynthia C. Bartholomae, Gabor Veres, Manfred Schmidt, Ina Kutschera, Michel Vidaud, Ulrich Abel, Liliane Dal-Cortivo, Laure Caccavelli, Nizar Mahlaoui, Vronique Kiermer, Denice Mittelstaedt, Cline Bellesme, Najiba Lahlou, Franois Lefrre, Stphane Blanche, Muriel Audit, Emmanuel Payen, Philippe Leboulch, Bruno lHomme, Pierre Bougnres, Christof Von Kalle, Alain Fischer, Marina Cavazzana-Calvo, Patrick Aubourg. Science, Vol. 326 No. 5954, November 5, 2009.

For press inquiries please contact:
Amber Salzman, Ph.D.
President, The Stop ALD Foundation
Ph: +1.610.659.1098

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