Rare Diseases Deserve Access to Accelerated Approval – Call Congress TODAY!

The Food & Drug Administration (FDA) recently issued a draft guidance on Expedited Approval Programs which they say fulfills the FDASIA mandate on Accelerated Approval for Rare Diseases, however the guidance does not address specific issues related to rare disease drug development as required by FDASIA.  We need to do better!

Representative Bilirakis (R-FL) is circulating a letter in Congress calling on the FDA to fully implement FDASIA and give rare disease access to Accelerated Approval.  URGENT ACTION is needed from the patient community to ask Members of Congress to sign onto the letter.

Please CLICK HERE to call your Member of Congress It’s easy & only takes 5 minutes.  Just enter your address & your Congress Member’s phone number will be displayed with a sample script you can use to ask your Member to sign onto the letter.

Access to Accelerated Approval brings down the time and cost to development treatments leading to a surge in investment and development activity for even the most rare disorders, giving more patients with rare diseases earlier access to safe and effective treatments. 

To see the Congressional Letter to FDA & to learn more about the issue, click here.

Thank you for taking action!

Emil Kakkis, MD PhD
President & Founder
EveryLife Foundation for Rare Disease

Gene therapy’s time seems to have come

Once considered too risky, now offering hope to patients long without it

By Carolyn Y. Johnson | Source: The Boston Globe

Two boys born with a fatally flawed gene that leaves them defenseless against common infections have returned to their homes in Argentina and Chile after receiving an experimental gene therapy at Boston Children’s Hospital.

Untreated, babies with their “bubble boy” disease would die in infancy, but in 2010 and 2012, doctors inserted good copies of the gene into their bone marrow cells, restoring the boys’ immune systems. Both are now well into toddlerhood.


Kirsti Pigney is participating in a trial for gene therapy to treat blindness. She can’t tell whether the therapy is working, but said her vision hasn’t worsened.

Meanwhile, Kirsti Pigney, a 76-year-old from Taunton who woke up one day unable to see, is participating in a safety trial of a gene therapy being tested by Cambridge-based Genzyme for a form of blindness. She recently had a virus, modified to carry a therapeutic gene, injected into one of her eyes.

Years after it was hyped, then vilified after the death of a teenager, then mostly forgotten by the general public, gene therapy has rebounded, and hospitals, companies, and investors in the Boston area have jumpedon the bandwagon. Patients are enrolling in a growing number of clinical trials here, and in some cases showing dramatic improvement. The technique, in which doctors “infect” patients’ cells with viruses engineered to carry useful genes, has matured and evolved.

It is a future few could have predicted a decade ago. Once trumpeted as a possible panacea for diseases ranging from sickle cell anemia to cystic fibrosis, gene therapy faced serious questions after the high-profile death of an Arizona teenager in a clinical trial in 1999. The case seized national attention, led to inquiries into failures of regulatory oversight, and scared away many investors. But some researchers continued to work to overcome the safety and technical hurdles.

“When I first went to UMass, several prominent scientists said, ‘What do you mean, gene therapy? They tried that and it didn’t work,’ ” said Dr. Terence Flotte, the dean of UMass Medical School, who has been working in the field since the late 1980s.

Over the years, scientists have improved the safety of the viruses used to insert good copies of genes into cells. Cautiously, they began to test the technique in people again. In 2008, two groups of researchers reported restoring some vision in people with a rare retinal disease. The next year, eight out of 10 children with bubble boy disease were cured in a European trial.

Scientists reported in 2010 that a French man with a genetic blood disorder no longer needed monthly transfusions after being treated by a gene therapy made by Cambridge-based Bluebird Bio.

Pigney and her husband Keith thoroughly researched the procedure when her doctor mentioned the Genzyme trial. Instead of replacing a defective gene, the treatment inserts a gene directing eye cells to produce a protein that inhibits the abnormal growth of blood vessels — the reason for her vision loss.

Undaunted by gene therapy’s checkered history, the couple was intrigued by recent promising results. Pigney had always enjoyed sewing and crocheting, and now can do those things only if her husband threads the needle. She can’t write or drive a car or read small print.

“I tend to be a little bit optimistic, and I dreamed about my eyesight coming back. I never felt afraid of the injection,” Pigney said. “They’ve given me so many now. I’m like a pincushion.”

She can’t tell whether the therapy is working, but said her vision hasn’t gotten worse. At this point, the trial is testing only the safety and dosage.

With a handful of experimental trials open or in the works at local hospitals, gene therapy seems to have found its footing.

Dr. David Williams, director of translational research at Boston Children’s Hospital, said he plans this summer to bring together key players from area hospitals to share the expertise Children’s has gained from launching trials. The trials include one for a rare, genetic immune system disease called Wiskott-Aldrich syndrome and another scheduled to begin this summer for the neurodegenerative disease adrenoleukodystrophy, best known from the role it played in the movie “Lorenzo’s Oil.”

UMass Medical School has several active trials for patients with a genetic flaw that leads to lung and liver disease; the most advanced trial one has treated eight patients. They have also treated two patients, including Pigney, with age-related macular degeneration. At scientific meetings, Flotte, the UMass dean, said he’s begun to notice something he hadn’t seen before: lots of interest from the business community — including drug companies and investors — eyeing a hot field.

Bluebird Bio went public earlier this month, raising $101 million. The first gene therapy, Glybera, made by the Dutch company uniQure, was approved in Europe last year, for a rare disease that causes fat to build up in the bloodstream. A spokesman for the company said it had requested a meeting with the US Food and Drug Administration to get clarity on the approval process.

As the technology has matured, the understanding of its possible uses has also expanded as scientists have learned more about basic biological mechanisms. UMass Medical School biologist Craig Mello’s co-discovery of a way to turn off genes won him a share of a Nobel Prize in 2006 — and it introduced the possibility that gene therapy could be used not just to introduce good copies of genes, but to shut down malfunctioning ones.

Dr. Robert Brown, a professor of neurology at UMass who studies ALS, said that the ability to do more than just add good genes has ignited broader interest in the technique.

“Many of these diseases have a need for silencing” a gene, Brown said. “In Huntington’s, some forms of Parkinson’s, and most forms of familial ALS, the real challenge is not loss of [gene] function, but how to respond” to mutated genes that are producing proteins that harm the body.

Animal testing in primates or other large animals set to begin this year are beginning to change the discussion about the potential for using gene therapy in those neurodegenerative diseases.

“I’ve been doing this for many years starting in the early 1980s, and we’re now at a point where we’re talking about when we would treat the patient,” said Dr. Neil Aronin, a professor of medicine and cell biology at UMass who has long studied Huntington’s. “We didn’t even have that discussion before.”


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