The Next Step in Developing A Cure for AKU

Source: AKU Society 


Alkaptonuria (AKU) was first discovered in 1902. More than 100 years later, the drug nitisinone has been identified as the first potential treatment for AKU.

Nitisinone is already licensed as a treatment for another rare disease, but it’s yet to be approved for treating AKU.

Lab experiments show nitisinone could stop the progression of AKU while clinical research from the US showed it can reduce levels of homogentisic acid (HGA), the cause of AKU damage, by up to 95%. However, further clinical trials are required to prove that nitisinone is effective in treating AKU.

Our first clinical trial, SONIA 1, is now almost complete and we are seeking AKU patients from across Europe to participate in our second longer trial, SONIA 2. This trial will last four years and will assess the long-term suitability of nitisinone for use in AKU patients. It will start in late 2013.
The trial will be based at three test centres in Europe: Liverpool (UK), Paris (France) and Piestany (Slovakia). Patients will need to make a total of 6 visits to a test centre, with each visit lasting 2 to 4 days. They will also need to complete questionnaires between visits and there will be a follow up phone call a month after the last visit.

Patients will be randomly divided into two groups. One group will receive nitisinone and the other will receive no treatment. Comparing the two groups is essential to prove nitisinone slows the progression of AKU in order to get nitisinone licensed for AKU.

Both the treatment and non-treatment groups will have regular contact with AKU experts. These experts and other health practitioners will monitor the progression of your AKU and your general health through a range of assessments. For those in the treatment group, they will also monitor any side effects that may occur.

Long distance and international travel within Europe will be arranged and paid for by the trial. Accommodation will be provided at either the hospital or at a local hotel if necessary. Other reasonable expenses such as local travel will be reimbursed. We have received funding from the European Commission to cover these costs.
All official printed information will be translated into patients’ native languages and interpreters will be provided for non-English speakers during test centre visits. Wherever possible, we will arrange for you to visit the test centre with another patient who speaks the same language as you.
We are conducting these clinical trials to help patients with AKU: nitisinone could be the treatment that they have been waiting for. If you are interested in participating in this clinical trial or if you would like more information, please visit or contact our Clinical Trials Coordinator, Hana Ayoob. You can email her at or ring +44(0)1223 322897.

An Invitation To Join Our Upcoming Webinar!

From PatientsLikeMe & the AKU Society.
Don’t miss out on the chance to find out everything you need to know about our AKU community on PatientsLikeMe.
On Wednesday July 10th, we’re holding an exclusive webinar with PatientsLikeMe. It will allow AKU patients and caregivers the chance to get all their questions answered about our online community.Over 70 patients and caregivers have signed up to use the AKU community on PatientsLikeMe already. It allows you to take control of your disease, while connecting with others going through similar experiences.

Not only does it have an active AKU forum, but users are finding great use in the tools that PatientsLikeMe offers. Those signed up can track the progress of their AKU, create health profiles and evaluate their own treatments. Everything you do on PatientsLikeMe can be printed off for your doctor to see too.

The webinar will highlight the resources and tools available to you on the community. It will also show you how your input can help countless others with AKU learn from your experiences.

What the webinar will cover: 
• How you can connect with others who have AKU and share experiences in the AKU forum
• How to create a Doctor Visit Sheet to track your health between appointments
• What you can learn from the symptom and treatment reports
When: Wednesday, July 10th, 2013

Time: 4pm (GMT) Duration: 30 minutes

•  Liz Morgan, Head of Community, PatientsLikeMe
•  Jenni Thorburn, Online Communities Officer, AKU Society
Attendees can look forward to a guided tour of the AKU community from Liz, who will discuss how to use the site and what benefits it offers. Liz and Jenni will then hold a question and answer session, giving you the opportunity to find out all you need to know.

Register now and let us know you’re planning to attend. Do so by emailing Liz at, including any questions you may have for Liz and Jenni during the webinar.

After registering, you will receive a confirmation email containing information about joining the webinar. It will include a link on where to access the webinar on the day.

If you’re not already using the AKU community on PatientsLikeMe, why not sign up now and have a look around the community. 

We hope to see you all there!

A Chat With Rare Disease Advocate Ed Fennell


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 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

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 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:

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Submit your events to CheckOrphan to help attract more attendees. Also contact us at 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.

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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.

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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.

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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.

Make a RareIMPACT

Make a RareIMPACT with CheckOrphan by Sponsoring a Rare Disease or by Becoming a Champion – find out more below:


Twice a month CheckOrphan will be spotlighting 2 disease areas and suggest 20 rare diseases from each disease area.

This is where you come in. We need you to help us sponsor 40 rare disease pages a month. The pages contain valuable information for patients, caregivers and physicians, and we need to keep them up and running.


Although individually the 7000+ rare diseases are rare, collectively about 1 in 10 has a rare disease. In those terms, rare is actually common and deserves proportional attention due to the numbers and economic drain these diseases cause on families and society.


Information is empowering – that is why CheckOrphan aggregates news and information about rare diseases. No other Internet platform makes more news, events, videos, research studies, clinical trials and additional information available to anyone and for free. Help us offer the world more!


Sponsor a Rare Disease – for less than 54 cents a day you can give a rare disease of your choice a voice

Become a Champion – donate any given amount and become a Champion!

All donations are tax-deductible as CheckOrphan is a registered 501(c)3 in the US and retains a similar status in Switzerland.


Thank you for your support. We hope your friends and network is just as supportive. We would love to have them involved, too. Here are some ways you may want to involve them:

  • Use Facebook to create an event and invite all your friends to Sponsor a Rare Disease or Become a Champion
  • Let your friends and family know on the other social media platforms you use (Twitter, LinkedIn, Instagram, Pinterest, Foursquare, YouTube, etc.) that you donated and ask them to do the same.
  • Persuade your company or organization to be socially responsible and invite other employees to match your donation.
  • Create a video and put it in social media
  • Send emails to people you know who will care and ask them them to match your donation
  • Share this page


Twice a month CheckOrphan will spotlight a disease area and will randomly pick 20 rare diseases in that disease area for everyone to sponsor. But you don’t have to limit yourself to these suggestions; the more the merrier.

Current Disease Area – RARE HEART DISEASES: 

Familial dilated CardiomyopathyDilated cardiomyopathy,  Congenital heart blockBrugada syndrome,  Congenital heart septum defectKawasaki syndromeEisenmenger syndromeHypoplastic left heart syndromeAortic coarctationCardioauditory syndrome of Sanchez CascosTricuspid atresiaComplete atrioventricular canalCardiac diverticulumAtrial myxoma- familialLong QT syndrome type 1Wolff-Parkinson-White syndromeAortic supravalvular stenosisAtrial fibrillation- familial 1Bidirectional tachycardiaHis bundle tachycardia 


Charcot Marie Tooth Disease, Chronic inflammatory demyelinating polyneuropathy, Diffuse Systemic Sclerosis, Encephalocele, Guillain–Barré Syndrome, Idiopathic basal ganglia calcification – childhood onset, Klippel Feil syndrome dominant type, Lafora Disease, Menkes Syndrome, Refsum Disease – infantile form, Spinocerebellar Ataxia 1, Amyotrophic Lateral Sclerosis type 2, Multiple-system Atrophy, Fragile X Syndrome, Friedreich Ataxia, Frontotemporal Dementia, Creutzfeld-Jakob Disease, Choreo-acanthocytosis, Hallervorden-Spatz Disease, Dandy Walker Syndrome

Second Disease Area – RARE CANCERS:

Small non-cleaved cell lymphomaAcute lymphoblastic leukemiaBurkitt’s lymphoma, Central nervous system lymphoma- primaryBone CancerLynch cancer family syndrome 2Metastatic squamous neck cancer with occult primaryAcinic cell carcinomaFollicular lymphomaBasal cell carcinoma- multipleAdenosarcoma of the uterusFibrosarcomaHepatocellular carcinomaLarge B cell diffuse lymphomaAcral lentiginous melanomaHodgkin lymphoma- childhoodLymphoblastic lymphomaChoriocarcinoma, Metastatic insulinomaAcute monoblastic leukemia 


Autoimmune HepatitisAntisynthetase syndromeAutoimmune myocarditis, Juvenile dermatomyositisChurg-Strauss syndromeAddison’s diseaseAutoimmune hemolytic anemiaAmyotrophic lateral sclerosis (ALS)Sjogren’s syndrome- juvenile- secondary to autoimmune diseaseBerger DiseaseDianzani autoimmune lymphoproliferative syndromeVasculitis- autoimmuneWegener’s granulomatosisAutoimmune progesterone dermatitisAllergic autoimmune thyroiditisAutoimmune enteropathy, Idiopathic pulmonary fibrosisTolosa-Hunt syndrome (THS)Susac’s syndromeAutoimmune oophoritis


The following are just a few facts about the impact of rare diseases globally:

  • 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 of whom 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 all of our lives. Why all of our lives? Because by solving rare diseases, it gives knowledge and insight to more common diseases, which leads to better treatments for common diseases as well.

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 RareIMPACT Funds Be Used?

CheckOrphan is a certified non-profit and we need your help to continue offering free information and expanding what we offer. Here is our commitment:

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Thank you for being a part of the solution!

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 We would love to hear from you. Visit the CheckOrphan website and sign up for a free newsletter:

The Importance of Patient-Initiated Research

Sharonne N. Hayes, MD, from the Mayo Clinic, recently authored a blog, “The potential of patient initiated research in studying rare diseases,” where she described her experience with the rare disease SCAD–spontaneous coronary artery dissection. Katherine Leon had connected with other SCAD patients via the WomenHeart Inspire online community and over the years had collected information on 70 people. At a conference, she approached Dr. Hayes about how she could help spur more research into SCAD, and a partnership was born. At the conference Katherine also met SCAD patient Laura Haywood-Cory who helped recruit patients online and keep momentum going.

“Our research team’s success in conceiving, piloting, refining, obtaining funding and recruiting for SCAD research, including the development of a DNA biobank for future genetic investigations at Mayo Clinic,” wrote Dr. Hayes, “could not and would not have transpired without the active and ongoing participation and support of ‘SCAD ladies.’” Mayo has followed-up with another trial with 200 SCAD patients and an equal number of their close relatives.

“The people most highly motivated to support or to even initiate investigations of a rare condition are those personally affected and their close relatives,” noted Dr. Hayes. This is something we have seen many times at Siren through our 12 years working with rare disease patients. The SCAD research is just one highly visible case. Other rare disease patients and caregivers are not only recruiting for research but funding it themselves.

Running a virtual biotech from the kitchen table
Another amazing example of patient-initiated research is Lori and Matt Sames of Hannah’s Hope Fund. When their youngest daughter was diagnosed with giant axonal neuropathy (GAN) in 2008, they were told that it is a terminal disease and soon realized there was no ongoing research, no foundation, no fundraising. So they got to work. Using social media, they raised money and awareness. The Sames had a successful pre-IND meeting with the FDA and at the end of the year are scheduled to initiate clinical trials with 11 children with GAN at University of North Carolina at Chapel Hill. They need an additional $500,000 to pay for the cost of the trial.

Buying and developing a drug
After an Israeli biotech company stopped investigating a promising medication, the Seckler and Wicka families bought the therapy and decided to develop it themselves as a possible treatment for their children’s Duchenne muscular dystrophy. The company, Halo Therapeutics, has been granted orphan drug status for the therapy by the FDA.

The most famous example of patient-initiated research is John Crowley, who had a movie based on his efforts to find a treatment for his children with Pompe disease. As we move forward with increased collaboration within the scientific community, the proliferation of the use of social media and inspiring stories like the ones above, I think this trend of patient-initiated research will continue to grow. What do you think?

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

Send your blogs to if you would like us to publish them. Visit CheckOrphan for more information


"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!