Click here!

Shivani B. Nazareth, RARE Blog contributor and a board-certified genetic counselor with Counsyl, Inc, is conducting an anonymous survey to better understand the financial cost of caring for a child with a rare genetic disease.

By participating in this survey, you will contribute to a research paper that will quantify the financial burdens endured by parents of children affected by genetic disease. The aggregate, anonymized opinion of the community will be shared with everyone from politicians to health insurance companies and will assist in bringing about change and reforms.

Click here to participate. Please allow about 30 minutes to complete.

Other staggering statistics:

• Estimated 350 million people worldwide affected by rare disease
• Only 5% of rare diseases have treatments; there are no cures
• Over 50% of rare diseases have no foundations, advocacy groups or community support
• 1 in 10 Americans is affected by RARE disease, that’s over 30 million people
• 30 million Americans is more than the total number of people living worldwide with cancer (28 million according to the Livestrong Foundation)

Can you please help us raise awareness to those affected by rare disease?

• How have you, your family or a friend been affected by rare disease? Submit your story along with a photo via the form on our Facebook page. We will be promoting the stories on our RARE blog everyday during February leading up to World Rare Disease day. Receive a “Care about RARE” car sticker for submitting your story.
• Are you a jewelry designer, school group or just a crafty person? Make and donate a bracelet to our 7000 Bracelets campaign and bring hope to a child/family living with rare. If you have a rare disease, please sign up to receive one of the bracelets.
• Or, help us assemble blue demin ribbons for World Rare Disease day. We will send you a kit with all materials included! Email Amy at amyg@rareproject.org.
  
• Are you a blogger? Join our rare disease blog hop in January & February! Stay tuned for details around the start of the New Year.

Do you have other ideas on how to show support for the rare disease community?
Post on Facebook at Facebook/globalgenesproject
Tweet with us via @GlobalGenes #1Mil4RARE

The mission of our Global Genes Project campaign is to increase awareness for the rare community. Help us bring together 1 Million for RARE on our Facebook page. Please like our page and share with a friend.

Most conferences discuss theories, postulate and talk a lot about ‘what can and should be done’ about a topic.  The GDC Conference created an agenda that successfully worked to change that.  The producers of this event wanted actionable outcomes; wanted patients, caregivers, industry and non-profits to walk away with ideas, plans of action and connections.  And guess what, I believe that they accomplished just that!

Compelling Agenda:

The agenda was well put together, making it difficult to choose where to be when.  If I were to say anything negative it was that there wasn’t enough time to sit in on enough of the great discussions.  They created 5 broad tracks that included; Reaching an early diagnosis,  Sharing family experiences, Optimizing care and coordination of services, Children living with genetic disorders (meeting their needs) and Accelerating Research.  Within those 5 broad tracks were a multitude of topical discussions that were very relevant for the variety of attendees that joined.  Click here to view the agenda in its entirety http://www.wadsworth.org/events/genetics/

I had the good fortune of joining a panel discussion led by James O’Leary, Chief Innovation Officer of Genetic Alliance.  We gathered to discuss the topic – ‘The Importance of Family Support Programs and Social Networks.’  My panel also included Mr. Jamie Heywood, Founder, PatientsLikeMe and Ms. Sarah Goshman, Asst. Director of Jacob’s Cure. We shared how social networks have advanced connections and communications within the rare disease community.  We also discussed what we saw working and what opportunities lay ahead.  Sarah Goshman did a great job sharing details around specific social media campaigns, whey they worked, and when organizations should embark on these types of programs.

The takeaway from this session – No social media efforts will work without ‘purpose’ and a clear ‘agenda’.   Need to know what you want to accomplish and why.

Another important feature of this event was the opportunity for parents to network with one another. We heard heart-wrenching please from parents of children with new diagnoses, and from many parents whose children have ultra-rare diseases with little to no support.  In particular, xxyy, 9Q deletion, 10Q deletion, 15Q deletion to name a few .  We talked with some of these parents individually about the value in connecting with other families, regardless of disease, and what resources were available for them to take advantage of.  Many of these families were immediately embraced by many different patient groups, support organizations and other parents, helping guide and share information that could be valuable.  Even a hug, knowing that they are not alone made the trip worth the effort.

The bottom line . . . you need to attend this event next year!  With more parent advocates and patient groups contributing, this is certain to become the meeting place for collaboration and to connect.

The rare disease community needs more events like this. . . perhaps we can convince them to bring this meeting west in the year’s to come!

Nicole Boice

Children’s Rare Disease Network

Global Genes Project

nicoleb@rareproject.org

DANA POINT, Calif. – January 26, 2011 – Monday, February 28, 2011, is the 4th annual Rare Disease Day — a day when people worldwide will show their support for the millions of people suffering from rare diseases and disorders. According to statistics from the National Institutes of Health (NIH), there are approximately 7000 different rare diseases that together affect over 25 million Americans and about 250 million people globally. It is estimated that 80% of rare diseases are caused by gene defects, and according to the Kakkis EveryLife Foundation, 95% of rare diseases do not have any FDA approved drug treatments. Since the Orphan Drug Act was enacted 28 years ago in January 1983, only 352 new drugs have been approved by the FDA for all rare diseases combined despite incentives by the federal government.

The Global Genes Project (www.globalgenesproject.org), a leading nonprofit rare disease advocacy organization, today announced the “Wear That You Care™” Denim Campaign in support of Rare Disease Day 2011 and to call attention to the global drug development crisis facing millions of people afflicted with rare diseases. The Wear That You Care™ Denim campaign is simple — all across the world people can participate in supporting the rare disease movement on Rare Disease Day 2011 by wearing a Denim Jeans Ribbon™ and their favorite pair of jeans — also known as vaqueros , cowboybuksers, niuzaiku, farmernadrág and dungarees in other countries.

“Spurring development of new treatments for thousands of rare diseases is one of the most pressing health care challenges we face in the world today,” said Nicole Boice, Founder, Global Genes Project. “The goal of our effort is to create synergy among all constituents committed to finding treatments for the millions of people living with rare diseases and to educate the public on how genetics can influence their health or lead to chronic or life threatening diseases.”
Since the launch of the Global Genes Project and Hope – It’s In Our Genes™ awareness campaign in February 2010, more than 150 leading corporations, organizations, hospitals and nonprofits have signed up to support rare disease awareness and educational efforts. Organizations that recently joined the effort include: Angelman Syndrome Foundation, Batten Disease Support and Research Association (BDSRA), Biotechnology Industry Organization (BIO), Children’s Hospital Research Center Oakland, Healthline, Illumina, Medpedia, MLD Foundation, National Society of Genetic Counselors, Pfizer, Progeria Research Foundation and RemedyMD. The Global Genes Project has also added new supporters from China, Serbia and Turkey.
“Many rare disease foundations are starting to understand our core message — we’re all in the same boat when it comes to drug development for our individual rare diseases and there are few options in sight for millions of people,” added Boice. “It’s time to band together to make our voices heard and to push for major legislative initiatives that provide novel incentives to researchers and industry so they will invest the time and capital needed to develop new treatments.”

A number of “Wear That You Care” denim awareness events are currently being organized around the world and hundreds of volunteers, coordinated by the Global Genes Project, are working on a multitude of outreach activities leading up to Rare Disease Day 2011. Some of the events and activities in progress for Rare Disease Day 2011 are as follows:
• The National Institutes of Health Office of Rare Diseases Research (ORDR), in association with the Global Genes Project, is encouraging all attendees to wear their favorite pair of jeans to their day-long Rare Disease Day 2011 celebration at the Lipsett Amphitheater at the NIH Clinical Center. Dr. Francis S. Collins, Director of the National Institutes of Health and one of the leaders of the Human Genome Project (HGP), is expected to address attendees.
• Pfizer’s rare disease research and development unit based in Cambridge, MA, will be encouraging attendees at their Rare Disease Day 2011 event to wear jeans to help raise awareness. In June 2010, Pfizer established a new research unit devoted to developing new biologics to treat rare diseases.
• Shire, one of the world’s leading specialty biopharmaceutical companies, will encourage employees to wear jeans to work and plans to hand out over 5000 denim blue ribbons to employees at various corporate locations worldwide.
• Over 200 volunteers, including numerous children, have made over 20,000 Denim Jeans Ribbons™ that will be distributed to rare disease patient advocacy groups, pharmaceutical companies, biotech firms, schools and hospitals on Rare Disease Day 2011. Blue denim ribbon making efforts will continue leading up to February 28, 2011, with a goal of reaching 50,000 handmade ribbons.
• Over 300 volunteers ranging from jewelry designers to crafters are working on the 7,000 Bracelets for Hope™ campaign. These blue denim inspired “cause bracelets” will be distributed on Rare Disease Day 2011 to children and families battling rare diseases and serve as symbol of hope to find treatments and cures.
• A number of schools have signed up to host “Wear That You Care™” denim awareness days and plan to distribute Denim Jeans Ribbons™ in an effort to support the rare disease community.
For more information on how to get involved and support Rare Disease Day 2011 in your local community or to get your Denim Jeans Ribbon™, visit the Global Genes Project at www.globalgenesproject.org.
About The Global Genes Project

The Global Genes Project is a leading nonprofit rare disease advocacy organization that educates the public about the prevalence of rare diseases worldwide. To see our full list of supporters, visit http://www.globalgenesproject.org/sponsors.php or follow us on Facebook at http://www.facebook.com/group.php?gid=214263320931#!/group.php?gid=214263320931.

Contact:

Jacqueline Tanzella
Spark Public Relations
jacqueline@sparkpr.com
415-321-1889
Nicole Boice
Global Genes Project
949.248.RARE (7273)
949.680.7088 (cell)
nicoleb@rareproject.org

It seems that over the last 4 months we have heard about various Pharma organizations with new commitments to rare disease, focusing money and research to help find treatments and cures for some of the rarest conditions.  This is great news!  And we as a community should be happy about the efforts of all of those who have been instrumental in driving these efforts!

We are optimistic that this is a trend that we will see continue to increase over the next few years.  It seems as though Pharma and industry have finally realized the opportunities surrounding the needs of this community.  It is clear that focusing on rare disease will help us identify treatments and cures for the more common illnesses.

It is clear that Pharma now more clearly understands the benefits that the Orphan Drug Act set in motion 20 years ago, that incentivises organizations focusing on rare disease research and drug development.   This is a really compelling time for rare disease, we are continuing to see positive steps forward based on the communities commitment and focus; advocacy organizations,  rare disease patient groups, rare disease parents, researchers, physicians and academia have collectively moved the needle for the millions affected by rare disease.     See most recent press announcement from GSK  below:

GSK outlines approach to delivering advances in the treatment of rare diseases

Creating an environment that fosters innovation, intuition and scientific acumen to deliver breakthrough thinking and new medicines

Issued 18 October 2010, London UK

GlaxoSmithKline (GSK) today provided further details about the strategic focus and development priorities of the company’s unit dedicated to rare diseases, which was launched in February 2010.  Following the announcement today of a new alliance with Fondazione Telethon and Fondazione San Raffaele, Marc Dunoyer, Global Head of GlaxoSmithKline Rare Diseases, outlined his ambitions for the unit and its potential to deliver significant benefits to underserved patient groups worldwide.

“GSK has a well established history of successfully researching and developing orphan drugs to treat rare diseases.  For companies like GSK to continue to make significant progress in developing new treatments to address rare diseases it requires unique skills, commitment and most importantly a deep understanding of the conditions.  For example Atriance^®/Arranon^®(nelarabine), for a difficult to treat form of leukaemia that affects only a few hundred patients worldwide each year, was the result of the dedication of one scientist, Gertrude Elion, whose personal insights and dedication led to us understanding the potential of this molecule and how it could be used to help a small group of patients who were in urgent need of another treatment option.

“However, with less than 10% of patients with rare diseases currently being treated worldwide, we recognise the size of the challenge, but also the opportunity to deliver new medicines to patients.” He continued, “We believe the creation of GSK Rare Diseases will help us realise this opportunity.  The unit provides us with the dedicated resources and focus that we believe is necessary to create the best possible environment to foster the innovation, intuition and scientific acumen needed to deliver the breakthrough thinking and create new medicines or approaches to tackling rare diseases.”

Dunoyer continued, “Our aim is to ensure that everyone within GSK Rare Diseases is fully immersed in the most up-to-date thinking.  There is a very tight-knit community within rare diseases; there are small numbers of patients affected by these diseases; and they are very often experts on their condition.  Treatment of patients with rare diseases is often undertaken by very specialised physicians, who are also the clinical investigators seeking new treatments for these conditions.

“We believe the most effective way to become integrated into this community is to ensure that we have dedicated employees within GSK who can work with patients, physicians and academia to continuously extend our understanding.”

Disease prioritisation

With between 6,000 – 8,000 rare diseases, Dunoyer recognises that the unit’s efforts will need to be focused.  “We will target those diseases where we realistically believe we can make a significant contribution; ideally we will be creating new medicines, but importantly by adding to the weight of scientific knowledge into rare diseases to the benefit of all working in this area.”

“Selecting the diseases to target won’t be easy and we will need to make difficult choices; we have adopted a systematic approach, which we believe will be critical to helping us make the right decision.  Our aim is to have a list of around 200 priority diseases that the unit will target – this list will change over time as our scientific knowledge and understanding changes.

“Therefore it is critical that we are close to the rare diseases community and have the most up-to-date information about each disease, such as prevalence and severity, upon which to base our decisions.  Other factors that will also influence our decision making process will include our belief about the potential for a treatment to help manage a disease, its complications, or even offer a cure.  Not all rare diseases are ‘reversible’ or can be significantly improved by therapeutic interventions and it will be vital that we are science-led in making these distinctions.

He continued, “We will also incorporate our understanding of medicinal chemistry and biology to help ensure that we are selecting the right molecular targets or disease pathway.  Again this will allow us to focus our R&D efforts in the areas where we have the highest probability of delivering medicines of value.”

“If we make the right decisions upfront, then ultimately the risk associated with discovery and development is generally lower as the conditions are often well defined and clinical development programmes tend to be small with robust endpoints.  In most cases the molecular target is known, making it easier for treating physicians to diagnose patients, many of whom are excited to be involved in clinical development programmes that offer the promise of new treatments.”

“We believe that by applying this systematic rigour to our decision making process we will ensure the long-term success of the unit for patients, physicians and also as a sustainable business area.”

Fuelling the R&D Engine

“To select the right molecules requires a strong R&D engine to continuously generate a large candidate pool.  This is where I believe GSK has a unique offering.  The R&D pipeline for GSK Rare Diseases will be filled from within the unit, but also from across the entire GSK organisation.  Every scientist, whatever therapy area they are working, has been tasked with considering how a molecule or platform technology being developed could be applied to treat one of the thousands of rare diseases.

“In practice this means that we will not be restricted to a small number of compounds that only have utility for a particular rare disease.  We do not want to become a specialist in a single area of rare diseases, such as oncology, as we believe this will limit the potential of the unit.  We want to create a diverse portfolio of compounds looking at a broad spectrum of rare diseases.  I believe the strong GSK pipeline will give us enormous scope and access to novel compounds with mechanisms we understand that could be utilised to treat rare diseases.”

Moving on, Dunoyer also recognised the cutting-edge research being undertaken by external organisations. “We know there is a lot of exciting rare diseases work being undertaken at the moment, and we will be looking to augment our in-house capabilities by collaborating with organisations and institutions working in complementary areas to GSK.  We have already formed a number of successful alliances, including Prosensa and JCR Pharmaceuticals, and we intend to build on these collaborations in our pursuit of the best science in this area.”

Turning molecules into medicines

“To make our molecules into medicines we will leverage GSK’s considerable expertise in areas such as formulation and manufacturing.  One of the unique aspects for the unit within GSK will be the continuous involvement of GSK Rare Diseases from discovery to commercialisation.  We know this is very important as it will help ensure that we remain close to both the treating physicians and importantly the patients.

“Critically I believe one of the most important capabilities of GSK, which is so vitally important in an area where there is a small number of patients spread world-wide, is our global reach – we believe we not only have the ability to discover and develop the medicines, but also to successfully deliver them to those patients who really need them. Never have I been more committed or excited about our potential to really make a difference. ”

GlaxoSmithKline – one of the world’s leading research-based pharmaceutical and healthcare companies – is committed to improving the quality of human life by enabling people to do more, feel better and live longer.  For further information please visit www.gsk.com.

By Taylor Selcke, MN Daily.com

For Michael Zimanske, years of holidays and birthdays spent in hospitals began after a routine kindergarten check-up.

The doctor said he wasn’t growing like a normal 5-year-old, and full body X-rays revealed the abnormalities in his joints. It took two years for doctors to recognize the disease — Schimke Immunoosseous Dysplasia, distinguished by short stature, kidney disease and an overall weakened immune system.

The disease is estimated to affect one in every 1 million to 3 million people. It’s one of more than 6,000 “orphan” diseases in the United States. To be classified as an orphan disease, there must be fewer than 200,000 cases in the nation.

Orphan diseases affect 25 million people in the United States, according to Dr. Ramaiah Muthyala, an associate professor in the University of Minnesota College of Pharmacy.

And at the University’s Center for Orphan Drug Research, researchers are working on multiple new treatments.

“To have an orphan product, the condition must be rare and there must be some evidence that the drug will work for that condition,” said Dr. James Cloyd, the director of the Center for Orphan Drug Research.

The Orphan Drug Act was passed in 1983, creating incentives for companies who may be hesitant to develop orphan drugs because of high costs.

According to Cloyd, more than 350 new drugs have been developed and approved by the FDA since the Orphan Drug Act of 1983.

To help companies obtain orphan-drug status, the University hosted a workshop with the U.S. Food and Drug Administration in August.

Minneapolis was chosen for the workshop because of the University’s Center for Orphan Drug Research, Cloyd said.

“This conference benefited companies who were intimidated by the FDA,” he said. “It gave them a chance to sit face-to-face with an FDA staff member and get feedback immediately.”

Cloyd said he hopes these workshops will accelerate the process of obtaining orphan drug status.

For Zimanske, there was not an orphan drug to lean on.

As he got closer to needing dialysis or a transplant for his kidneys, the Zimanskes moved Michael’s primary care to the University, just one of the many hospitals where they spent much of their time.

Michael Zimanske died just more than five years ago from a massive stroke. He was 13 years old.

For his mother, Theresa Zimanske of Lakeville, Minn., the experience brought enlightenment.

“When Michael was being treated, he really opened our eyes to the challenges young children face when they are diagnosed with a rare disease,” said Zimanske.

Although from different parts of the U.S., Gina Gareau-Clark from Georgia can relate to the Zimanske family. It has been a year since Gareau-Clark discovered that her twin daughters, Julia and Maya, five years old, had mitochondrial encephalomyopathy, a disease that prevents the body from converting food into energy.

Her days are filled with multiple therapies, which the twins get at school and at home. It’s a constant struggle for balance, Gareau-Clark said.

“We want them to participate in therapies that would benefit them the most without robbing them of too much energy.”

Julia and Maya need constant assistance to carry out activities many take for granted, like walking and talking.

“[Their symptoms] vary from day to day. Sometimes they go limp and lethargic because their body can’t produce enough energy,” said Gareau-Clark.

Gareau-Clark doesn’t see a time when her daughters will be able to care for themselves — unless research and orphan drugs change that.

The orphan drug they now use is by no means a cure, she said, and it’s costly.

“It costs us $350 a month for the drugs Julia and Maya need. Over the course of the year, we have spent $10,000 in out-of-pocket expenses because insurance doesn’t cover it,” Gareau-Clark said.

But Zimanske and Gareau-Clark remain hopeful that orphan drug research will provide better options.

“For now, all we can do is live day to day,” said Gareau-Clark. “The heartbreak is always there. You appreciate your children so much more, and you want to hug them all of the time. Even though it can be daunting, be grateful for every moment and remember that they are here now.”

Yesterday, Senator Sam Brownback (R-KS) (along with Sen. Sherrod Brown (D-OH)) introduced S. 3697, the Creating Hope Act of 2010. The bill would amend FDC Act § 524 to change the transferable Priority Review Voucher (“PRV”) program created by the 2007 FDA Amendments Act (the so-called “treat and trade” program), and in particular with respect to rare pediatric diseases. The introduction of S. 3697 comes on the heels of a July 2010 Senate Health, Education, Labor and Pensions Committee hearing, titled “Treating Rare and Neglected Pediatric Diseases: Promoting the Development of New Treatments and Cures,” at which the idea for the bill was reportedly (according to FDA Week) first floated. Both Sens. Brownback and Brown have shown a particular interest in rare and neglected diseases, having sponsored provisions in the Fiscal Year 2010 FDA appropriations bill and spearheaded efforts to have provisions included in the Fiscal Year 2011 appropriations bill (see our previous post here).

As we previously reported (here and here), under FDC Act § 524, applicants for certain new drugs and biologics for “tropical diseases” that have received priority review may receive a PRV entitling the holder to a 6-month priority FDA review of another application that would otherwise be reviewed under FDA’s standard 10-month review clock To our knowledge, FDA has granted only a single PRV – in connection with the April 2009 approval of NDA No. 22-268 for COARTEM (artemether; lumefantrine) for the treatment of acute, uncomplicated malaria infections in adults and children weighing at least five kilograms.

Among other things included in the 17-page bill, S. 3697 would amend the PRV program to extend it to applications for a “rare pediatric disease” – that is, a disease “recognized in the medical community as affecting a pediatric population” and that is “a rare disease or condition, within the meaning of section 526” (i.e., the Orphan Drug Act). Such an application must be: (1) a “human drug application” (as defined under PDUFA); (2) “for prevention or treatment of a rare pediatric disease;” (3) “that the Secretary deems eligible for priority review;” (4) “that is for an innovative treatment” (a new term defined in the bill); (5) “that relies on clinical data derived from studies examining a pediatric population and dosages of the drug intended for that population;” and (6) “that does not seek approval for an adult indication in the original rare pediatric disease product application.”

S. 3697 would also amend the PRV eligibility requirements for tropical disease applications. Currently, in order for a drug product to be eligible for a PRV, four requirements must be met. Under the bill, in addition to clarifying that only an application for an “innovative treatment” will be PRV-eligible, S. 3697 requires that the application “is for a drug that has not been approved for commercial marketing for any tropical disease indication by a government authority outside of the United States for more than 24 months before the tropical disease product application is submitted.”

With respect to PRV use and transferability, S. 3697 clarifies that “[t]here is no limit on the number of times a priority review voucher may be transferred before such voucher is used.” This is consistent with FDA’s interpretation of the current law. Specifically, FDA clarified in a draft guidance document that although FDC Act § 524 allows for only a single actual transfer of a PRV from the original recipient to another sponsor, “contractual arrangements such as the use of an option or transfer of the right to designate the voucher’s recipient could comply with the terms of the statute.” S. 3697 would also amend the law to add new notification requirements, timelines, and user fee procedures.

Finally, the bill would establish a process by which a sponsor can request designation of its product as one for a “rare pediatric disease” or that is an “innovative treatment.” (Perhaps providing a back-door mechanism for a sponsor to learn whether its product would qualify for 5-year new chemical entity exclusivity under the FDC Act or 12-year reference product exclusivity under the PHS Act.) As mentioned above, the term “innovative treatment” is a defined term in the bill – specifically, as:

(A) a human drug that is the subject of an application submitted under section 505(b)(1), if that drug contains no active ingredient (including any ester or salt of the active ingredient) that has been previously approved in any other application under section 505(b)(1), 505(b)(2), or 505(j) or section 351 of the Public Health Service Act; or

(B) a biological product that is the subject of an application submitted under [PHS Act § 351(a)], if that biological product—

(i) does not have the same structure as a biological product that has been previously licensed in any other application under [PHS Act § 351(a) or (k)] or approved under [FDC Act § 505]; and

(ii) is not biosimilar, within the meaning of section [PHS Act § 351(i), to a biological product that has been previously licensed in any other application under [PHS Act § 351(a) or (k)] or approved under [FDC Act § 505]. [(emphasis added)]

The limitation of PRV eligibility to 505(b)(1) NDAs is contrary to how FDA has interpreted the current PRV law, which some might say is not entirely clear on whether 505(b)(2) applications are also PRV-eligible. For example, during a December 2008 public hearing concerning additions to the list of tropical diseases identified at FDC Act § 524, FDA noted that 505(b)(2) applications are eligible for PRVs.

“We are pleased with the FDA’s decision to allow our planned clinical trial of GRNOPC1 in spinal cord injury to proceed,” said Thomas B. Okarma, Ph.D., M.D., Geron’s president and CEO. “Our goals for the application of GRNOPC1 in subacute spinal cord injury are unchanged — to achieve restoration of spinal cord function by the injection of hESC-derived oligodendrocyte progenitor cells directly into the lesion site of the patient’s injured spinal cord. Additionally, we are now formally exploring the utility of GRNOPC1 in other degenerative CNS disorders including Alzheimer’s, multiple sclerosis and Canavan disease.”

Yes, you read that correctly. Canavan disease. Geron has already provided their stem cell line to lead Canavan researcher Dr. Paola Leone, and she is currently in the process of testing the cells on a Canavan mouse model. Furthermore, the press release goes on to talk specifically about Canavan and Dr. Leone.

Canavan Disease: Canavan disease is a fatal neurological disorder that belongs to a group of genetic disorders called leukodystrophies, characterized by the abnormal development or degeneration of myelin. Symptoms of Canavan disease present in the first six months of life and death usually occurs at 3 — 10 years of age. GRNOPC1 is being tested in a rodent model of Canavan disease in collaboration with Dr. Paola Leone, Director of the Cell and Gene Therapy Center, at the University of Medicine and Dentistry of New Jersey.

This is tremendous for our community, both because of the attention it is helping garner for Canavan, a rare disease which is listed in this article right next to more commonly known diseases, such as MS and Alzheimers, and because of the formal recognition of Canavan as a good model on which to test therapies for other white matter disease. We are all hopeful for this upcoming trial and excited that the years of fighting to have the stem cell ban lifted are at an end. If this trial is successful, the possibilities are endless.

For example, here is an explanation and visualization of the results of the animal testing:

And here are videos of the actual rats in the lab:

While these circumstances were highly controlled and we should not necessarily expect the same results in humans, we can certainly hope! I think that is the key word of this new development. Hope. When we sent this press release out to all our families and sister organizations on Friday, hope was the word which came up repeatedly in almost every reply we received. What a tremendous distance we have come in the past fourteen years since Jacob was diagnosed.

So, thank you, Geron, for fueling our hope that one day we will have truly effective treatments for these devastating disease.

(This article was originally posted at the Jacob’s Cure blog: A Blog Against Canavan Disease.)