Rare Diseases and Clinical Trials: Discovering Suitable Drugs for Adults and Children

by Assunta Ginanneschi

Recently we received an official blog request about a very delicate theme: Better medicine for children. Dr. Rose came to us through the pediatric & rare disease congress that took place in Basel in February 2016.

My colleagues Rieka and Nicole attended on behalf of CheckOrphan. After the conference, the three of them  exchanged ideas and thoughts about rare diseases as well as the actual status for clinical trials with children. A couple of meetings later, we started  collaborating with him. We are really very glad to arise awareness about this topic, thank Dr. Rose for approaching us about it. Continue reading

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


A Chat With Rare Disease Advocate Ed Fennell

Source: healthworkscollective.com

Last week I had a fascinating phone conversation with rare disease advocate, Ed Fennell. Full of energy, he is helping to care for 2 young granddaughters – each with a rare disorder.

Hayley, who is now 6 years old, had her first seizure at 6 weeks old. It took 2 years for the family to get a diagnosis of CDKL5 Atypical Rett Syndrome. Hayley has very few physical illnesses, but has severe developmental delays. Fennell is hopeful that she will be able to communicate 1 day using eye gaze technology.

Two-year-old Emily lost 98% of her small intestine and has Short Bowel Syndrome. She has a permanent IV line, parenteral feeding and ileostomy bag. Emily is thriving, but they are constantly on guard for infection.

Fennell is mostly retired after a 35-year career running a private consulting business on labor issues. He now spends his days helping to care for his 2 granddaughters. When Hayley started school last year, Fennell found himself with time on his hands. Instead of relaxing, he decided to take action. He wrote a letter to the local teaching hospital, Albany Medical Center, that described the importance of rare disorders and that the hospital should get involved. “I described how rare disease families wait too long for a diagnosis, don’t know where to go for care and need to be handled with greater efficiency,” said Fennell. He proposed engaging the rare disease community with the hospital and holding an event on Rare Disease Day.

To his pleasant surprise, Albany Medical Center responded with a budget and resources. They created Albany Medical Center’s first forum for rare diseases on February 28, 2013. Held at the hotel connected to Albany Medical Center, more than 85 people attended including: rare disorder patients/caregivers, special ed staff from local schools, early intervention specialists, public health nurses, reps from advocacy groups and 6 physicians. “This diverse and excited group felt we had started something unique,” explained Fennell. “The decision to collaborate with the medical center was innovative and getting their support was key.”

The next challenge
“My next goal is to expedite the diagnostic process for rare disorders at Albany Medical Center and within the region,” said Fennell. “When doctors find something mysterious they shouldn’t presume it’s not a Zebra. They should try the new rare disease search engines, like FindZebra.com. They shouldn’t hesitate to get their patients appointments with national centers of excellence for a consult.”

Fennell described the importance of getting a diagnosis, “We need a diagnosis so we can get introduced to other people dealing with similar circumstances. You then become part of that family.”

“I also want to help coordinate the ongoing, long-term chronic care administration of services for rare disease families at Albany Medical Center,” noted Fennell. “Over time, we learned how to do this with our children and I want to help others get fast tracked.”

Anyone who is interested in learning more can contact Fennell via email at efennell43@gmail.com.

Authored by:

Eileen O’Brien

Eileen has more than 16 years of digital healthcare marketing experience. Working at Siren Interactive, she focuses on the rare disease and orphan drug niche within the pharmaceutical industry.

Make the most out of CheckOrphan

Here we explain all you can do at checkorphan.org in order to make the most out of our services.


Stay up to date. A very important feature of CheckOrphan’s platform is the daily news. CheckOrphan is the largest source on the web for rare diseases. Every day we comprise news involving the rare disease community from a great variety of sources and post them on our website.

Expand your network. Send your content to the following email addresses and we will publish them on our website and/or blog:

  • News articles and press releases to news@checkorphan.org
  • Opinion pieces to rare.diseases@checkorphan.org (attn: Blog)
  • Videos to rare.diseases@checkorphan.org

The news articles and press releases will be published on the next edition of our daily Newsletter and reach hundreds of people.

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Submit your events to CheckOrphan to help attract more attendees. Also contact us at rare.diseases@checkrphan.org about our free media partnership to help promote your event more effectively.


Find more information about a rare disease you are interested in here. CheckOrphan’s rare disease database has nearly 7000 rare diseases. Through each page, we offer information regarding the diseases’ symptoms, available treatments, causes, etc.  Each disease page is also linked to related news, events and research.

Learn more about a rare disease here.

Treatment Database

CheckOrphan also has organizations and treatment databases.

Companies can add their products or update a product page in the treatment section of our website. This section is a window to find treatment options for various diseases.

Link Network – Companies, Patient Organizations, Hospitals, Research Centers and more

Enter your company, association, hospital, clinic, or research institute for more visibility. Here you can submit information about your work and be part of CheckOrphan’s network.

Support & Connect

A great way to support this cause is by Sponsoring a Rare Disease Page or donating any given amount and Become a Champion. Your support makes a real difference.

Where do your donations go?


We are also very active in different social media platforms. Connect with us to expand our network and create awareness about rare diseases among your friends too.

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Projects & Campaigns

At CheckOrphan, we keep moving and evolving. Be a part of it! We are currently working on Make a RareIMPACT, an ongoing campaign to get as many Rare Disease Pages as possible sponsored.

Rare disease tweet chat: how can rare diseases gain more media attention?

Imageby Rebecca Aris

Source: pharmaphorum.com

Rebecca Aris highlights the recent tweet chat on the topic of rare diseases hosted by pharmaphorum.

On Friday 1st February this year, pharmaphorum hosted a tweet chat on the topic of rare diseases. Many rare disease patients came together through this social media channel to discuss topics in this space. This article details some of the responses and themes that arose.

How has social media affected rare disease patients?

The first question we asked participants was how social media has affected rare disease patients. Here are some of the responses we had to this question:-

  • Information via social media is power for rare disease patients.
  • Social media has provided an amazing opportunity for rare disease patients to find each other and share support.
  • Social media allows patients the opportunity to engage with companies who are developing drugs for rare diseases.
  • In Wilson Disease group, someone newly diagnosed from the UK posted a question and got replies from people in five countries in approximately 36 hours.
  • Social media has given people with cystic fibrosis the tools to put real pressure on public healthcare systems to fund new drug.

So it seems that social media offers information, a platform to connect, support and access to global communication – instantly.

Rare disease patients and clinical trials

We asked our tweet chat participants how they found clinical trials and how they calculated the risk of participating. Here are their answers:-

Patients are clearly quite clued up when it comes to resources in this area. They naturally still express concern over the fact there is often no alternative treatment option, and they want to be as informed as possible.

How can we raise awareness of rare diseases?

Rare diseases need more media attention! This was a message that echoed throughout the chat. Rare diseases need more media press so the public can see that this is a common problem that needs to be addressed. Some popular responses to this question from the tweet chat are below:-

  • One tweet, one post at a time.
  • Sharing the simple fact that collectively rare diseases are not rare. One in ten Americans lives with a rare disease.
  • Need high profile media attention.
  • Increased interaction between all relevant stakeholders from patients to regulators.

So how can we gain media attention in this area? The question remains and given the fact that collectively rare diseases are common it’s clearly time that this area received more attention.

How can we reduce isolation of rare disease patients?

When interviewing rare disease patients a common topic that arises is the feeling of isolation that rare disease patients experience. When questioned on how we could reduce this feeling of isolation our tweet chat participants came up with the following suggestions:-

  • So many wonderful online options like @inspire @patientslikeme @wegohealth and groups like @RareConnect and @bensfriends can also help
  • Check out #pcori.
  • Social media, especially Facebook groups can reduce isolation of rare disease patients.

Online rare disease communities, it seems, really do make a difference in offering support and reducing isolation.

If you could tell pharma one thing – what would it be?

Many patients express an interest in wanting to be able to communicate more openly with pharma. We asked our tweet chat participants if they could tell pharma one thing what would it be. Some of the responses were as follows:-

  • Newly diagnosed rare disease patients want pharma to extend to support groups and offer an explanation of the drug development process.
  • Rare disease patients need safe, effective treatments and they want to work together with pharma.
  • We want a cure, but we’ll take a treatment.

A common theme was that they wanted to work more closely with pharma and wanted more education on how pharma works and, specifically, the drug development process.

As a rare disease patient, what gives you hope for the future?

We closed the tweet chat by asking what it is that gives rare disease patients hope for the future. Here is what they said…

  • Other inspiring rare disease patients / families.
  • More funds being allocated for research into rare disease treatments.
  • Incredible gene therapy advances.
  • More venues to communicate.
  • Industry interest, young generation of academic researchers.

It seems that rare disease patients are hopeful that therapeutic advances, increased communication with pharma and increased funds in this area are contributing toward the treatments and cures of the future.

We’d like to thank those who participated in the chat for sharing their thoughts with us and engaging in this lively debate.

You can view the whole conversation on Appeering here or on Storify here.

Takeaways from the Rare Disease & Orphan Drug Leadership Congress

Takeaways from the Rare Disease & Orphan Drug Leadership Congress

I was tweeting fast and furiously at the 7th Annual Rare Disease and Orphan Drug Leadership Congress on July 18 and 19 in Philadelphia, and here are some of the insights I captured. Stephanie Okey from Genzyme did an excellent job moderating and set the tone by starting off the conference saying, “No disease is too rare to deserve treatment.”

For me, the highlight of these events is getting to meet rare disease advocates in person, and I captured a few on video. One panel of patient advocates included Dean Suhr of the MLD Foundation and the RARE Project, Kim Ryan of Fight Colorectal Cancer and Jill Panetta, PhD, of the Polycystic Kidney Disease Foundation. The topic was “How to Interact with Advocacy Groups to Facilitate Access.” This was a key theme that resonated throughout the two days: in the orphan drug space, it is essential for pharmaceutical companies to engage with patient advocacy groups. This echoes what we’ve learned at Siren in our more than ten years of working in the space.

Patients are impatiently waiting
The patient advocate panel agreed that it’s essential in the orphan drug space for biopharma companies to proactively communicate with advocates. Ryan noted that the earlier the better that advocacy groups are involved in the clinical trial process. Even in rare diseases a lack of awareness and understanding can be a barrier to clinical trial participation. As a result, advocacy groups are taking a much more active role in supporting clinical trial education.

Dr. Panetta explained that the current patient-led demand for treatment is driven by pipeline transparency, the rise of empowered patients and social media. She said that rare disease patients are closely following the advances in basic research and “patients are impatiently waiting for treatments.”

Focus on the patient
In his presentation Roger Garceau, MD, from NPS Pharma, made it clear that his company takes a patient-centric approach. He declared that when rare disease advocacy groups exist they are very influential and can be a valuable partner for pharmaceutical companies. He noted that access is not just providing drug, but that companies have to provide “burden-free product access.”

Other high points included Emil Kakkis, MD, PhD, presenting the work that he is doing with the EveryLife Foundation for Rare Diseases and Marc Boutin from the National Health Council discussing how the MODDERN (Modernizing Our Drug and Diagnostics Evaluation and Regulatory Networks) Cures Act addresses current barriers. Elizabeth Ottinger, PhD, from the National Institutes of Health, described the progress of the Therapeutics for Rare & Neglected Diseases (TRND) program. Since 2009 there have been 14 projects with two drugs currently in Phase I, as well as one natural history study. She announced that the program will soon be accepting applications for new projects.

I left the conference feeling both inspired and overwhelmed—inspired that great progress is being made and a little overwhelmed by the many challenges ahead.

By Eileen O’Brien, Director of Search & Innovation at Siren Interactive

If you would like to contribute a blog post, please send it to rare.diseases@checkorphan.org. We would love to hear from you. Visit the CheckOrphan website and sign up for a free newsletter: http://checkorphan.org/newsletter/subscribe


"I Challeng Rob" Win an iPad 3 4 categories and many prizes click to learn more

Join the “I Challenge Rob” contest and support rare diseases

Are YOU up for a Rare Challenge and a chance to win an Apple iPad 3? (Launching in March)

Or if you are a company, organization, academia or celebrity/politician/sports figure you can win prizes too!

My name is Rob Derham, Founder and President of CheckOrphan (501c3 non profit).  Are you ready to make a difference for RARE DISEASES by challenging me “Rob”?

From February 14 – March 17 in honor of World Rare Disease Day (February 29):  If your network of people can raise more donations than all other participants in that period – then you will win an Apple iPad 3 and be highlighted in the news!!

Entry Categories

  • Private Individuals – Apple iPad 3 Contest
  • Celebrities, Politicians, Nobility, Sports Figures Category
  • Company Category – Logo on CheckOrphan
  • Organization – Logo on CheckOrphan
  • Academia – Logo on CheckOrphan

Get started – How  “I Challenge Rob” Works

    • Private Individuals
      • Become a Champion and make a donation of $1 or more, or Sponsor a Rare Disease Page.
      • During the payment process, in Step 3, click on the circle “Yes, I want to win an iPad 3”.
      •  Then enter the name you want to use as a Challenger in the contest in the box below. This can be your real name or a code name ( (Ex. Mister Network) and finish the payment process.
      • Contact your network of family, friends, social media, work colleagues and others and give them your name.

    • Entities
      • Become a Champion and make a donation of $1, or more or Sponsor a Rare Disease Page.
      • In Step 3 of the payment process, when you add the name and link for the company, this will enter you in the contest once your payment is complete.
      • Contact your network of family, friends, social media, work colleagues.
  • All donations are tax-deductible.


  • Use Facebook to create an event and invite all your friends or fans (entities)
  • Use as many social media platforms available to get the message out and to thank your network once they donate.
  • Persuade your company or organization to support you by matching whatever funds you raise through your network with your name as the challenger.
  • Create a video and put it in social media
  • Concentrate first on 10 people who will really know well and ask them to try and set a goal to get 10 people from their network
  • Then look at people who always forward you emails. Ask them to join in this great cause and to refer you!!
  • Email campaign
    • Start with a personal email to all your contacts individually
    • Use some of the facts about rare diseases below
    • Add links in your email to the videos that show how your network can donate with you as the challenger
    • Then use MailChimp to give them updates on a weekly basis throughout February with friendly reminders to show their support for you and rare diseases
    • Include educational and persuasive videos from CheckOrphan’s video archive
    • Build momentum as March 17 approaches


If your network raises the most funds through any combination of donations or rare disease page sponsors , you will win the following:

Private Individuals

  • iPad 3
  • News article about your success in raising awareness
  • Free access/attendance to a rare disease conference

Celebrity / Politician / Nobility / Sports Figure Category

  • Personal video on CheckOrphan that appears in all news articles for one month (optional)
  • Key note address at a Rare Disease Conference (optional)
  • News Article on CheckOrphan

Entities (One Winner from each of the 4 Categories mentioned above)

  • Your logo linking to your homepage at the top of every page on CheckOrphan for one month
  • News article about your entity


  • Any sexist, racist or vulgar referral names will be removed and you will be disqualified. Please, be considerate. Rare diseases are a very serious issue for millions of people whose lives are devastated by them.
  • No cheating, but fair creativity is encouraged
  • You cannot use “I Challenge Rob” to promote products, religion, politics and so forth, but you CAN use it to promote CheckOrphan and rare diseases
  • Neither I nor CheckOrphan is responsible for any taxes incurred if you win

How “I Challenge Rob” Started

The “I Challenge Rob” campaign unfolded after talking with some friends about how we can make a further impact for rare disease. A couple of them responded to my challenge by offering to raise more funds through their network of people than through mine. With each of us having a passion for rare disease awareness and wanting to make a difference in the rare community, the concept of “I Challenge Rob” was created.

About Rare Diseases:

As the Founder of CheckOrphan, I am deeply affected by patients, researchers and many others in the rare disease community who are neglected by the media and society due to the fact that individually, rare diseases do not affect a lot of people. However the reality and results of isolation and neglect to communicate the needs of the rare community greatly impacts the care and treatment options available to those whose life is changed forever by a rare disease.

IMPACT – facts about rare diseases

  • There are roughly 7000 rare diseases and less than 5% have a treatment or cure
  • Nearly 1 in every 10 people has a rare disease
  • About 70% of rare diseases affect infants and children – most will never make it past their teens
  • In the US and the EU alone there are over 60 million people living with a rare disease
  • Diagnosis of a rare disease typically takes 2-3 years, with an average of 2 or 3 misdiagnoses along that odyssey.
  • Rare diseases are an enormous social and economic challenge for society and quite often, a rare diagnosis leaves families in financial despair


That’s why we need YOUR voice! The Rare Disease Community needs the power of communication and knowledge to make a difference in the health of their lives.  CheckOrphan gives everyone the opportunity to communicate what they are doing for the rare disease community by allowing them to submit news, videos, links, events and more. CheckOrphan is solely dedicated to promoting and informing the world about their needs and offering unique solutions that help them along their path to a cure and a better future for us all.

How Will The Campaign Funds Be Used?

  • CheckOrphan promises to keep the information and ability to submit content-free for all
  • Over 95% of funds go directly into producing what you see on CheckOrphan
  • CheckOrphan will provide more content through more partnerships
  • New projects:
    • Global Rare Disease Registry
    • Science Journalism Program
    • Professional Working/Collaboration Platform for the rare disease community

Thank you for joining the cause!