Author Archives: CheckOrphan
A Little Girl With Giant Axons, a Deranged Cytoskeleton, and Someday Gene Therapy
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Hannah, age 7. (Dr. Wendy Josephs)
“When you hear hoof beats, think horses, not zebras.” So goes the mantra of first-year medical students. If a common disease is a horse and a rare disease a zebra, then giant axonal neuropathy (GAN), with only 50 or so recognized cases worldwide, is surely a unicorn.
Five years ago this week, 9-year-old Hannah Sames of Rexford, New York, who lives near me, received a diagnosis of GAN, a disease much like amyotrophic lateral sclerosis. And this month, thanks in part to the herculean fundraising efforts of Hannah’s Hope Fund (HHF), the cover and lead article of the Journal of Clinical Investigation reveal most of the story behind the devastating inherited disease, with repercussions that will reach far beyond the tiny GAN community.
If all goes well at the next Recombinant DNA Advisory Committee meeting at the NIH, a phase 1 clinical trial may be underway before year’s end to evaluate gene therapy for GAN. “A fire started burning deep in my core exactly 5 years ago when Hannah was diagnosed. We will not rest until we have a successful treatment for our kids. They are rare, but they are no longer neglected,” says Lori Sames, Hannah’s mom and executive director of HHF.
CHARMING HANNAH
On March 5, 2004, when Lori and her husband Matt first glimpsed their newborn daughter’s kinky reddish fuzz, they were both delighted and puzzled. Madison, five, and Reagan, two, have stick-straight hair, as do Lori and Matt. When the birthing goop dried, Hannah’s cap of tight curls sprang to life.
For many months, the little girl seemed okay. She smiled, sat, crawled and hauled herself upright on schedule. But her footsteps were halting, hesitant. Hannah slowly grew clumsy, the strength ebbing from her legs. Lori made the usual rounds of specialists assuring her all was well, but already, filaments of protein were distending the long axons of the motor neurons running down Hannah’s legs, blocking messages to her muscles.
By Hannah’s third birthday, Lori and Matt suspected something was seriously wrong. Both of Hannah’s arches now bowed, and she tottered. More doctors gave false reassurances, hardly hiding their diagnosis of Lori as a helicopter mom. Then Lori’s sister showed cell phone video of Hannah walking to a physical therapist friend, who thought Hannah’s gait was like that of a child with muscular dystrophy. Six months of neurological tests followed, all results normal.
Lori Sames, Executive Director, Hannah’s Hope Fund
That’s what happens with a disease so rare that few physicians have seen it, or even heard of it. They can’t recognize a unicorn, don’t know what to test for. But finally an astute pediatric neurologist gave Matt and Lori an answer, and it didn’t come from an exome sequence or a sophisticated scan. “He took out a huge textbook and showed us a photo of a skinny little boy with kinky hair, a high forehead, and braces that went just below the knee – he looked exactly like Hannah. And he had GAN,” Lori recalls. Three days of tests at a children’s hospital in New York City confirmed the diagnosis.
Meeting with a genetic counselor was devastating. Lori recites what they learned: “Matt and I are each carriers of GAN, and we passed the disease to Hannah. Each of our two other daughters has a two in three chance of being a carrier. GAN is a rare ‘orphan genetic disorder’ for which there is no cure, no treatment, no clinical trial and no ongoing research.”
“So you are telling us this is a death sentence?” Lori recalls asking the genetic counselor.
“Yes.”
The disease would progress slowly, the counselor said. Hannah’s legs would continue to weaken. By first grade she’d likely need a walker in addition to her ankle supports, and soon after, a wheelchair. She might lose her sight and hearing, and eventually be bedridden.
Matt and Lori walked around like zombies for a few days. And then they founded Hannah’s Hope Fund. Their basement became a war room where they used their business backgrounds to assemble the first ever research conference for GAN. As Lori taught herself molecular biology, she became convinced that gene therapy was a logical approach, but at the same time recognized the value of learning anything about GAN. They were lucky to find Jude Samulski, director of the Gene Therapy Center at the University of North Carolina at Chapel Hill, and he recommended a young investigator, Steven Gray, to lead the team. It’ll be the first gene therapy delivered to the spinal cord. A clinical trial is incredibly expensive, and HHF’s fundraising efforts are amazing – they’ve earned $1 million in just the past 8 months. They’re just one of many not-for-profits in the rare disease community who have taken the helm of funding research.
Reproduced with permission from the American Society for Clinical Investigation; J. Clin. Invest. 2013; 123(5)
INTO THE INTERMEDIATE FILAMENTS
In parallel to the gene therapy efforts, HHF supports research into the nature of the cellular glitch behind GAN, in the labs of Robert Goldman and Puneet Opal at Northwestern University, Jean-Pierre Julien at Université Laval in Quebec, Pascale Bomont at the INSERM neurological institute in Montpelier, France, and others. The group reports on a remarkable set of experiments in May’s JCI that probe the out-of-control parts of the cell’s inner skeleton, the intermediate filaments (IFs).
GAN is the perfect disease to investigate IFs because it’s caused by a single gene and has a large, measurable effect. Other conditions may affect IFs secondarily, or reflect input from several genes or environmental exposures.
At fault in GAN is a protein called gigaxonin that normally interacts with the IFs. Most kids with GAN have abnormal forms of the protein; Hannah is highly unusual in that she lacks it entirely.
A cell’s inner scaffolding has three types of girders: microtubules made of the protein tubulin, microfilaments made of actin, and the intermediate filaments made of several other types of proteins. The recipes for IFs vary with cell type: keratins in hair, neurofilaments in neurons, and vimentin in fibroblasts, the connective tissue cells that make up much of our bodies. But all IFs share a basic dumbbell shape, with a head, a tail, and a long helix in the middle. The dumbbells align and aggregate into filaments.
(Dept. of Energy)
BLOCKING CELLULAR TRASH REMOVAL
Being a nerd, when I hear “T and A” I think “tubulin and actin.” And when I hear “UPS” I don’t think of brown delivery trucks spewing package-clutching people – I think of the ubiquitin-proteasome system. The UPS is how cells round up their garbage and get rid of it.
Ubiquitin is a molecule that tags other molecules bound for destruction, like marking rotten produce at a supermarket or the tire of a parked car exceeding the time limit. Other proteins help escort the debris to proteasomes, which resemble spools that tear apart what’s dumped into them, spewing out pieces that are then further degraded.
Gigaxonin – what Hannah’s cells lack – is technically an “E3 ubiquitin ligase adaptor,” based on its DNA sequence. In Hannah’s motor neurons, hair follicles, and probably other places, the utter absence of gigaxonin means the IFs aren’t broken down and recycled. They remain extended and build up, slowly, which is why Hannah was okay for the first two years. I don’t mean this in a bad way, but Hannah is, genetically speaking, like a knockout mouse because she has two deletions of a major part of her gigaxonin genes.
Green IFs enmesh orange mitochondria in these mouse fibroblasts. (Linda Parysek + Trudy Aebig)
Dr. Goldman and his group looked at fibroblasts from knockout mice and from three patients (called “GAN cells”; not including Hannah’s), tracking the interaction between vimentin and gigaxonin. Their discoveries confirm and extend what’s known about the disease:
• GAN affects IFs, leaving microtubules and microfilaments alone.
• GAN cells don’t overproduce intermediate filaments – the mRNA level for vimentin is normal. Rather, the filaments aren’t broken down on schedule, like garbage collectors going on strike.
• GAN cells are strikingly abnormal. Like a creeping wad of chewed gum, the glommed filaments pervade the cytoplasm, cling to the nucleus in clumps, and capture mitochondria, rendering these energy-extracting organelles swollen and misshapen. The cell’s organelles drown, swept up and suspended in the gunk of a deranged cytoskeleton.
Gigaxonin grabs onto vimentin by the helix part of the barbell. But the researchers were surprised to find that ubiquitin doesn’t enter the picture – gigaxonin must route the IFs to the proteasomes by some alternate pathway. However it happens, the researchers hypothesize, gigaxonin normally dismantles the long IFs into pieces that enzymes further chew up – like splintering a pile of logs into twigs.
GAN’s correctible! At least in a dish. Giving gigaxonin to GAN cells lowered IF levels within 72 hours, which is what gene therapy would ideally do. But kids aren’t collections of cells. If gene therapy goes off target, what could happen? If it works too well, will cells without IFs survive?
ON BEYOND ZEBRA
The research results may suggest new (or perhaps old) drug targets for GAN. Meanwhile, the slow crawl towards clinical trials continues.
(Dr. Wendy Josephs)
In a disturbing twist, Hannah will not be among the first to receive the experimental gene therapy, because she doesn’t make gigaxonin. So if genes placed in her spinal cord enable her motor neurons to make gigaxonin, her body will see a protein it’s never encountered before — a red flag to the immune system. And so before Hannah can join the clinical trial that has not yet begun, she must have treatments to accustom her immune system to gigaxonin. That means suppressing T cells or a stem cell transplant from one of her sisters.
This week at the American Society of Gene and Cell Therapy annual meeting in Salt Lake City, researchers are brainstorming ways to modulate the immune system to accept a protein introduced with gene therapy, with Hannah the case study. “How can they safely treat her? What is the best way to suppress her immunity? And how will they determine when it’s safe to wean her?” Lori asks. She’s there, of course.
Casey Davies Ketcham lost her battle with GAN in March.
Casey’s legacy is also that what researchers learn about GAN will likely help many others. “IF aggregates form in several types of neurological disorders in addition to GAN—such as ALS and Parkinson’s disease,” says Dr. Goldman. Add to that variants of spinal muscular atrophy and Charcot-Marie-Tooth disease, Alexander disease, Lewy body dementia, and Alzheimer’s disease. ”Our results suggest new pathways for disease intervention. Finding a chemical component that can clear the aggregations and restore the normal distribution of intermediate filaments could one day lead to a therapeutic agent for many neurological disorders,” says lead author Saleemulla Mahammad, a postdoctoral researcher at Northwestern.
I hope the days when rare diseases were considered “orphans,” and ignored, are finally gone, as more and more families form not-for-profit organizations that push research far beyond what was once possible. What we learn about the unicorns and zebras can often help the horses too.
(Hannah’s story is told in chapters 10 and 11 of my book The Forever Fix: Gene Therapy And The Boy Who Saved It.
Orphan Drug Biotechs Do It Best
Source: The Motley Fool
By Terry Chrisomalis
There are many biotech stocks to choose from that have long-lasting value. Each one can potentially have huge value, but there is a group of biotech stocks that focus only on orphan drugs. You might ask why you should bother investing in this type of biotech stocks? Because these companies treat rare diseases with limited treatment options.
In my opinion, these biotech stocks perform better than their peers, and will do better for the foreseeable future. They have an advantage over other biotech stocks. The orphan drug biotechs that are leading the way in the sector are BioMarin Pharmaceutical (NASDAQ:BMRN), Alexion Pharmaceuticals (NASDAQ: ALXN), and Vertex Pharmaceuticals (NASDAQ: VRTX).
Advantages of Orphan Drugs
The first advantage of being an orphan drug biotech is that the Food and Drug Administration (FDA) allows drug makers to get seven years of exclusivity for their drugs. Also, they may obtain tax benefits in certain situations. Other drug biotechs only receive fives years of exclusivity for their drugs.
The second advantage is that there’s limited competition. To me this is one of the most important advantages. If you are the only biotech that treats a rare disease you have no competition. No competition means that the drug maker sets the price, and all money goes exclusively to it.
The final advantage is that the FDA is more lenient when it comes to the efficacy of the drug. The FDA may approve weak drugs because patients would have no therapy option otherwise. These several key advantages are why I think orphan drug biotech stocks have a better chance in the biotech sector.
Which companies have orphan drug status? Orphan drug companies have to treat diseases that affect fewer than 200,000 patients. Recently the market has gone up a lot, and it seems that these orphan drug biotech stocks have given investors many reasons to be happy.
BioMarin Pharmaceuticals
BioMarin has a pipeline of drugs that target unmet medical needs. The company has generated about $500 million dollars from its three approved drugs that treat rare genetic diseases. These drugs are Aldurazyme, Naglazyme, and Kuvan.
The CEO claims the company can be more profitable with more marketing, but is putting more effort into researching more drugs that treat rare diseases. I think this is good for the long term. The genetic disorder drugs that are approved by the FDA from BioMarin treat patients that have deformed bones or mental impairments.
BioMarin has a market cap of $8.6 billion dollars, and currently trades close to its 52-week high of $64.98 per share. Despite this, the company still has a huge pipeline of orphan drugs that it is currently working on. The company has an average 50-day volume of 1.2 million, so it is a very volatile stock to invest in. I think it is a strong buy because of the partnerships it has generated thus far, with Genzyme, Merck Serono, and Alliant Pharmaceuticals. These partnerships establish BioMarin as a strong buyout candidate. Investors should definitely keep an eye on this stock.
Vertex Pharmaceuticals
Vertex has done very well over the last few years, and it has many drugs in the pipeline. It targets a rare disease known as cystic fibrosis. Cystic fibrosis is a severe disease that causes young children and young adults to get a life threatening buildup of sticky mucus in the lungs. There are about 30,000 people in the United States with cystic fibrosis, and 70,000 people worldwide.
The drug that Vertex uses to target cystic fibrosis is called Kalydeco. Investors should take a look at scooping up some shares of Vertex, because analysts estimate that this company has a $4 billion market opportunity in cystic fibrosis.
Vertex had its cystic fibrosis drug approved by the FDA on Jan. 31, 2012. By the end of 2012, Vertex reported net product revenues for Kalydeco of $171.6 million, andKalydeco will generate good revenue over the next few years. The company has a market cap of $11.8 billion dollars. It is close to its 52-week high of $66.10 per share, but with its other drug Incivek for hepatitis C it still can go higher from here. Hepatitis C has a potential $20 billion market. Long term investors should check this biotech out for inclusion in their portfolios.
Alexion Pharmaceuticals
Another rare disease drug maker is Alexion. This company only has one approved drug, Soliris, but is approved for two indications. The FDA first approved Soliris for paroxysmal nocturnal hemoglobinuria (PNH) in 2007. PNH is a life-threatening disease that destroys red blood cells.
In 2011 Alexion was approved for Soliris treating aHUS, or Hemolytic Uremic Syndrome. This disease is life threatening, and can damage vital organs leading to stroke, heart attack, kidney failure, and death.
Alexion is a great company to invest in. Soliris is expected to keep generating more revenue over the next few years. For 2013, the company gives amazingly positive guidance–the company states that it will end 2013 with earnings per share in the range of $2.82 to $2.92 per share. Net product sales for its products are expected to be between $1.49 billion to $1.5 billion.
Alexion pharmaceuticals has a market cap of $18.8 billion. The stock currently trades at $96 per share, and has plenty of room to grow with its Soliris drug. It is trading at a high price-to-earnings ratio of 75, but given the fact that its approved drug has no competition it is still in good shape. It trades a little below its 52-week high of $119 per share, and therefore I think it is a good buy given the current price.
Final thoughts
Orphan drug companies are biotechs that are worth investing in for the long term. As described above, the risk is much less compared to other biotech stocks. This is because these biotech stocks get more leniency from the FDA. As we have seen over the last few years, orphan drug biotech stocks trade higher compared to other biotech stocks.
When considering a speculation play for your portfolio, I feel that you can’t go wrong in choosing one of the stocks above. They are already established, and the treatments they sell face hardly any competition, allowing them years of product revenues, and many years of market exclusivity. Plus, other drugs in their pipelines now have a chance to obtain accelerated approval, meaning that drugs can be approved earlier than ever. Orphan drug biotechs do it best in the biotech sector.
Infography by EvaluatePharma
Virtual zeal: rare disease caregivers carry a powerful voice in social media
Source: PharmaPhorum
This article highlights how rare disease patients and caregivers can harness the power of social media to support or challenge pharmaceutical companies. The equivalent of a modern day megaphone; telephone; and printing press combined; social media showcases its power in no more passionate…
By Melissa Hogan
SavingCase
This article explores the voice of rare disease patients and caregivers in social media and the power they wield to support or challenge the pharmaceutical companies that serve them.
The equivalent of a modern day megaphone; telephone; and printing press combined; social media showcases its power in no more passionate an arena than in rare disease.
While some think of Facebook as a fun pastime; in private rooms or sometimes publicly; rare disease sufferers and their caregivers are offering diagnoses and treatment advice; discussing side effects; and advising on every other aspect of life with a chronic or rare condition. While some follow celebrities on Twitter; those affected by rare disease might use Twitter to make sure their views are heard by pharma and their governments alike.
On the heels of Rare Disease Day; you’d be remiss not to know that rare disease advocates are often proud of their status as ‘zebras’. “If you hear hoofbeats; think horses; not zebras” is the oft-quoted tenet of medical diagnosis; the assumption being that often the simplest explanation; rather than a rare or exotic disease; is usually the best.
Zeal is not just a pack of zebras
It is that perspective that has made rare disease groups stand up and proudly claim the title of zebras; often displaying stuffed zebras at their events. But when zebras become a pack; as they often do on social media; they become a zeal; a title that is not only categorically appropriate; but descriptively appropriate as well.
Figure 1: Zebras on display at Rare Disease Day 2011 at National Institutes of Health. Photo courtesy of National Institutes of Health.
In addition to describing a pack of zebras; zeal is defined as “great energy or enthusiasm in pursuit of a cause or an objective.” More than almost any other online group; those affected by rare disease approach their cause of support; education; medical care; and advocacy with great energy and enthusiasm. In describing them and others like them as the “alpha geeks” of health care; internet geologist Susannah Fox notes: “They are in the crucible. They ‘roll their own’ by creating communities of health information exchange where none had existed.”
Feeling the zeal
Not only can rare disease patients utilize social media in their diagnosis; support; and treatment efforts within their population; one should be cognizant of both the benefits patients can confer in raising awareness and getting expensive treatments reimbursed; but also the damage they can inflict via the democratizing medium of social media. An example of both can be found in the efforts of Canadian-based The ISAAC Foundation and its founder; Andrew McFadyen; a parent of a child with the rare disease Mucopolysaccharidosis (MPS) VI.
To date; Mr. McFadyen’s social media efforts have succeeded in obtaining reimbursement of high priced enzyme replacement therapies for several patients; including his own son Isaac; by their Canadian provinces after the provinces first declined or delayed reimbursement. While pharma companies are surely lobbying for reimbursement of their treatments; sometimes only the efforts of the patients they serve are viewed with collective sympathy.
In 2012; for example; the family of a young girl with MPS VI; Violet Revet; had been awaiting for approximately six months for word on reimbursement for the drug Naglazyme® by the Saskatchewan; Canada health ministry. Without an answer; and watching the disease progress in their daughter; the parents went to Mr. McFadyen for help. A Twitter campaign caught the attention of Premier Brad Wall who responded and the treatment was approved within days. The effect was as clear as the Premier’s statement: Twitter “democratizes things.”
Amplifying the voice of reason
While pharma can benefit from the efforts of patient advocates; they can be the target of such efforts as well; such as Mr. McFadyen’s latest endeavor; which I was able to view from the inside out.
Over the last several years; scientists began studying the use of a Janssen FDA-approved drug for interstitial cystitis called Elmiron® for the bone and joint problems that plague children with MPS. The ISAAC Foundation was one financial supporter of those studies. Data from small animal studies were completed in 2012 and presented at several conferences. This precipitated Mr. McFadyen’s conversations with Janssen itself to explore the research further and possibly support human trials.
Figure 2: Isaac McFadyen (front) who suffers from MPS VI; flanked by his family including his father and advocate Andrew McFadyen (right). Image courtesy of The ISAAC Foundation.
According to Mr. McFadyen; his efforts were rebuffed several times until finally in February 2012; he began a social media campaign; including a website not so subtly titled “ShameonJNJ.com”; Twitter and e-mail barrage; and Facebook community to encourage Janssen / Johnson & Johnson to reconsider its decision. The campaign culminated around February 28; Rare Disease Day; with several Janssen executives receiving hundreds of e-mails from impassioned parents and supporters of MPS families.
On March 1; Johnson & Johnson changed its Twitter handles that had been receiving some of the barrage; from @JNJComm and @JNJStories to the new @JNJCares; @JNJParents; and @JNJNews. Janssen also quickly began organizing a medical advisory board to both bring Janssen up to speed on a disease with which it was unfamiliar (Mucopolysaccharidosis) and to consider the scientific evidence and what next steps to take.
Some might disagree with the public pressure of social media tactics like those employed by Mr. McFadyen and his supporters; calling it public bullying. When asked what he thinks of those who might say that using such tactics make him a bully; Mr. McFadyen replied:
This is not being a bully. I’m just one man with a firm belief in the rights of those with rare disease to have treatments just like those with cancer or heart disease. One might instead call a large pharmaceutical company or a government a bully when they make decisions without considering who they affect. With social media; we simply help amplify the voice of reason.
Whether studying; interacting; advertising to; benefitting from; or even suffering from the behaviors of rare disease sufferers on social media; it is clear that their behaviors and efforts cannot be ignored.
References
1. http://susannahfox.com/2011/07/06/alpha-geeks-in-health-care/.
2. http://www.newstalk980.com/story/saskatchewan-girl-waiting-help-rare-disease/67994
3. http://www2.canada.com/saskatoonstarphoenix/news/story.html?id=6e79808f-1adf-45de-92ba-589a8517e2d1
Link
Help prevent changes that could limit access to disability benefits or people with Cystic Fibrosis
We still have work to do to prevent changes that could make it more difficult for people with CF to receive disability benefits. Now that our representatives have heard from the CF community, we need you to ask your senators to join our effort to fix this proposed policy:
The CF Foundation worked with our champions in the House of Representatives to send a letter to the Social Security Administration that lays out our concerns about these proposed disability benefit eligibility changes. We asked you to help us gather signatures, and you delivered. Advocates like you sent over 9,000 messages encouraging your representatives to sign the letter.
Now, we’re working on a similar letter in the Senate, and our goal is to beat that record. Can you help us send over 10,000 messages to our senators?
Please don’t forget that these eligibility changes are proposed— not final— and your advocacy efforts may help prevent them from taking effect. We’ve drafted a note for you, so all you have to do is hit send and then spread the word to your family and friends.
Thank you for all that you do! Together, we will keep adding tomorrows to the lives of all people with CF.
Sincerely,
Cystic Fibrosis Foundation
publicpolicy@cff.org
Should progress in health be always measured in statistical terms?
Judging by the Editorial entitled “A manifesto for the world we want” (Dec 1, p 1881), with whose statements I agree, it seems that in the collective imagery of medicine the priority is focused only on what can increase or reduce global numbers favorably.
Notwithstanding, an area of medicine exists that cannot be valued in these terms and this includes people affected by rare diseases. Research and assistance on rare diseases will not affect the global numbers dramatically, but it can do so in a qualitative way in terms of advances in biomedical knowledge, efficiency of health plan design, the urgency to establish transparent and profitable international procedures of cooperation, and harmony in the innovative translation of projects to industry.
Giving priority to rare diseases in the coming years is likely to result in opportunities to improve the standards of medical care for the whole population, but the main obstacle, as said before, is posed by the danger of exclusive quantitative assessment of public health.
I declare that I have no conflicts of interest.
Emilio Roldán
Fundacion Geiser, Mendoza, Argentina
The Lancet. A manifesto for the world we want. Lancet 2012; 380: 1881.
Support the CAL Undiagnosed Diseases Research & Collaboration Network Act
Source: The Global Genes Project
By Heather Long
During the week of April 9, 2013 Representative John Carter (TX-31) is planning to re-introduce my son’s bill – The CAL Undiagnosed Diseases Research & Collaboration Network Act.
Prior to the re-introduction, other House of Representatives members are being sought to sign on as original co-sponsors. The more Representatives that sign on as original co-sponsors, the better. Please contact your Representative in Congress and tell them that you want them to be an original co-sponsor to Cal’s Bill and urge them to contact Representative John Carter’s office.
If you don’t know who your U.S. Representative is, go to http://www.house.gov/ and typing your zip code in the box at the top right hand corner labeled “FIND YOUR REPRESENTATIVE.”
One of Heather Long’s three children (Cal) passed away in 2006 at five years old to an undiagnosed disease. Heather was told that her son’s death was likely caused by a very rare metabolic disease, and she has since focused her energies on being an advocate for patients suffering from undiagnosed and rare diseases.
In 2008, Heather co-founded a nonprofit organization, U.R. Our Hope., that assists individuals and families who are on the journey of finding a diagnosis or are navigating through the health care system after a rare diagnosis. In 2011, Heather co-authored H.R. 2671- The CAL Undiagnosed Diseases Research and Collaboration Network Act, which was proposed in the 112th Congress and is scheduled to be re-introduced during the current 113th session. And recently, Heather proudly joined the Global Genes Advocacy Leadership Group.
The Irony of Cottage Cheese
Dr. Ricki Lewis, author of The Forever Fix, and rare disease blogger, shed light on a sad truth about modern priorities in her latest post, Treat Cellulite, or Rare Diseases? The post describes a revolutionary new procedure that drastically reduces the appearance of bulging, uneven fatty tissue predominantly seen in women in the area of the thighs. This is also often refered to as a person having “cottage cheese” thighs. Dr. Lewis finds it shameful to think that there are many thousands of children suffering from many different rare diseases while people are paying over $2500 (American) for a procedure to reduce the fatty lumps on their legs. This article illustrates a truly tragic irony: money for research doesn’t always go to the most noble cause, but usually to the one which is most popular. Enjoy the post.
“Next, news that all women will want to hear!” teased the commentator on the increasingly imbecilic Today Show.
Soon I learned that, finally, we womenfolk need no longer suffer from the “horrible, dimpled ‘orange peel’ skin” of cellulite. The new miracle cure sounded like “cellulase,” an enzyme that breaks down wood.
Googling, I soon discovered that “Cellulaze” is instead a new laser technique that “pinpoints and disrupts dimpled pockets of herniated fat” and melts away the collagen cords that hold in place the vile lipid, while promoting formation of new collagen and elastin. It joins a long list of cellulite remedies, including sound waves, radio waves, massage, retinol, red algae patches, and extracts from licorice roots, horse chestnut, and kola. The market is $2.3 billion.
The horrors of cellulite. (Photo credit: Cliff Lewis)
Those selling cellulite cures call it “a modern epidemic,” but the fact that 85% of postpubertal women have cratered thighs suggests that the condition is normal. Actually, cellulite is more common in women due to differences in the pattern of collagen fibers in the fat beneath the skin: in men it’s a network, but in women the fibers align longitudinally, pushing bulging adipocytes up into the dermis. The difference may be Darwinian, a fat-storing adaptation of pregnancy.
One can diagnose cellulite with a “pinch test,” and then classify oneself using the Nurnberger-Mulle scale of advancing decrepitude. A stage 0 butt, thigh, or hip has inoffensive folds but no “mattress-like appearance,” whereas the dread stage 3 brings “spontaneous dimpling.”
Intrigued, I checked out Cellulaze. On the Patent and Trademark Office website I found two entries: a composite material, and cereal by-products. I had better luck with the FDA. The agency approved Cellulaze as a medical device in January 2012. It hails from Westford, MA-based CynoSure. Next I tracked down the article in the Aesthetic Surgery Journal describing the device, the invention of Barry DiBernardo, MD, of Montclair, NJ.
Dr. DiBernardo conducted the clinical trial for the “laser lipolysis” in his own clinic. Into one dimpled thigh of each of ten women, he slipped a fiberoptic tube bearing a laser that emits energy both straight ahead and to the side, an innovation called “side-firing technology.” The invasiveness – 4 small cuts — is what sets this anti-cellulite laser apart from earlier ones that simply shine light from the outside. I envisioned lifting the skin on a chicken and scraping out the fat below as I read the journal description: “When laser treatment was completed, the liquefied adipocytes were removed by gently squeezing the incision-point tissue.”
Judging from the ten human thighs displayed in the paper, photographed next to their untreated control mates, Cellulaze works, and the effect lasts at least a year. The procedure takes a little more than an hour, and the patient stays awake and recovers quickly.
But getting your cottage cheese deposits zapped away isn’t cheap – it costs $2,500 a “spot,” whatever that means. One plastic surgery practice on Park Avenue offers a “virtual consultation,” which evoked YouTube images of butt scans on copiers.
The more I thought about cellulite and its $2,500-a-pop treatment, the madder I got. That’s because since writing my book about gene therapy, The Forever Fix, I’ve met, on Facebook and in person, many families raising funds to help develop treatments for their children, all of whom have diseases so rare that they can’t wait for pharma to take an interest. So I have a suggestion.
Every post-pubertal woman considering spending thousands to blast away cottage cheese deposits should instead send the money to Hannah’s Hope Fund, or Canavan Research Illinois, or Families Curing Retinal Blindness Together or the Cystinosis Research Foundation, or any of the organizations listed at CheckOrphan or the National Organization for Rare Disorders.
The world is full of medical conditions much more serious than cellulite.”
To learn more about Dr. Ricki Lewis, click HERE.
To visit Dr. Lewis’s Blog, click HERE.
Dr. Lewis’s Twitter: @rickilewis.
A Tweet a Day Keeps the doctor Away
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How patients and healthcare providers are using social media.
Source: http://www.hitconsultant.net/
