The Next Step in Developing A Cure for AKU

Source: AKU Society 

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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 www.developakure.eu or contact our Clinical Trials Coordinator, Hana Ayoob. You can email her at hana@akusociety.org or ring +44(0)1223 322897.

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

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