Thursday, January 19, 2017

Address to the United Nations opening of the NGO Committee for Rare Diseases

Founder of Atypical HUS India Foundation, Kamal D. Shah spoke (via video) at the United Nations opening of the NGO Committee of Rare Diseases recently. The committee aims to address issues pertaining to rare disease patients across the globe.

Shah spoke about the issues of access to drugs in developing countries. Shah also said that the work of the committee can help patients from countries like India. Here, patients did not have access to drugs that can cure them even though the drugs were available elsewhere in the world.

This is a picture from the event.



Monday, August 15, 2016

An accident of geography?



I was in the middle of a meeting. My cell phone rang. The number was unknown. I muted the phone. I called back after the meeting was done. It was an unknown male voice. He introduced himself as Abhijit Chatterjee*. He spoke in Hindi with a heavy Bengali accent. I found it difficult to follow what he was saying. But I could figure that he was talking about his daughter, Ananya Chatterjee* who was diagnosed with aHUS. She was currently on Peritoneal Dialysis.

I get roughly one call a month these days. After setting up the Atypical HUS India Foundation, putting up a website and a Facebook and Twitter account and trying to publicise the news that trickles in from time to time, people have been contacting me. My response is usually very standard. After all, nothing much changes in the grim, dark world of aHUS in India. No Eculizumab. No other good options for most of the mutations.

Over the next several weeks, I got introduced to Abhijit Chatterjee through a series of different people. The Atypical HUS Foundation in the US, aHUS UK, other aHUS family members from different parts of the globe. The man was desperately trying every source of information and help he could find on the internet. He contacted every person or organisation he found linked to aHUS. Unfortunately for Abhijit Chatterjee, all his efforts finally ended at my email Inbox or my phone.

My response was standard and offered little hope. “Eculizumab is the only good treatment for this disease. It is not available in India. Until it becomes available (this may take a few years more) or another drug becomes available, we need to do maintenance treatment like plasmapheresis, plasma infusions, dialysis etc.” I introduced him to some leading hospitals and clinicians so that he could talk to them first hand and see what other options might be available. He probably got similar answers from them as well.

On one call, Chatterjee talked about his daughter. I could sense the fondness he had for her, for little Ananya.

“She is so cute and innocent. She has no idea what is wrong with her. She has such a sweet face. I am feeling very helpless. I have spent lakhs of rupees on her treatment. I have borrowed money from everyone I know. I am not sure how I will repay them. I just want her to become well.”

As my eyes swelled, I could feel my gut wrench. What have we done to deserve this? Wouldn’t it have been better to have a disease that had no cure? It was so frustrating to know that there is a cure, there is a drug that can cure us completely. It’s just that we can’t afford it. It’s just that we were born in a country that did not have access to it.

Then, one day, there was suddenly a ray of hope. It came in the form of an email from a company that was working on a new complement inhibitor. They wanted to explore the possibility of conducting a clinical trial in India. As eculizumab was already available in countries like the US and the EU, it made perfect sense for them to do a trial in a country like India where there would be patients without any options and who might be perfect candidates for a trial.

I promised all help. Their Asia representatives were asked to contact me. I put them in touch with all the clinicians I knew who could have such patients. My hopes however came crashing down when I learnt that the company was currently enrolling only adult incident patients. That is adult patients who had just been diagnosed and had not proceeded to kidney failure.

I wrote to the company asking them to include paediatric patients as well as they would be able to enrol many more patients that way. The company responded that it would get back to me after discussing with the management. I haven’t heard back from them yet.

About a month back, I got a call from Abhijit Chatterjee again. They had sent Ananya’s blood samples for genetic testing. The reports showed a Complement Factor I Mutation. She would need Eculizumab for a transplant, I thought to myself. The doctors were recommending a kidney transplant. I asked him what the plan was in case of recurrence. He said he did not know. I asked him to discuss with the doctor that since they did not have eculizumab, what was the point in undergoing a kidney transplant especially if she had a Factor I mutation?

He said he would discuss with the doctor and get back to me. 

A couple of days back, Chatterjee called again. I thought he must be calling to update me about the transplant plan. However, I could immediately sense from his voice that this was something else. He sounded completely distraught. Little Ananya was admitted in the ICU at a very reputed hospital in South India. She had worsening blood counts. Her Platelet Count was dangerously low. She was put on a ventilator. They were monitoring very closely. I did not say much.

That evening I could not stop thinking about the little girl. 

The next afternoon, I got a call from Chatterjee. I was honestly scared to take the call. I feared the worst. I answered the phone after an excruciatingly long wait. Chatterjee broke down. “It’s all over. Last night, Ananya had a cardiac arrest, multiple organ failure and then she died.” I hung up. My heart sank. My throat choked. My mind went blank. Little Ananya was no more.

I muttered a curse to the skies. I asked myself what was wrong with this world? Of what good was all the progress mankind has made when the life of a little girl could not be saved merely due to an accident of geography? Why do people in some countries have access to the drug while others do not? 

Alexion Pharmaceuticals, the company that manufactures the drug has priced it so high that very few people in the world can afford it. Forbes magazine has declared their drug to be the most expensive drug in the world today. They have probably spent millions of dollars on the research for the drug. They have probably spent a lot of time, money and effort in navigating the various patent laws and making their drug available to people. Given that the number of patients in the world is so small, are they not justified in pricing their drug high enough to be able to make profits?

I honestly don’t know the answer to that question. All I know is that what happened to Ananya is just wrong. I don’t know what can be done to change the situation for aHUS patients in India and many other countries in the world where the drug is not available. Something needs to change. How many more such lives are going to be lost fighting this disease? How many more Ananyas are going to die before this situation is remedied? Someone needs to find a way out.

(* Names have been changed to protect identity.)

Friday, July 1, 2016

Updates from the aHUS UK and aHUS alliance meetings in London

I attended the aHUS UK patient meeting and the aHUS Alliance meeting in London during the last week of June. I learnt a lot of new things about aHUS. I am going to summarise the learnings here.

The biggest takeaway for me was that there are four new drugs in the pipeline to treat Atypical HUS. Dr. Wynne Weston-Davies of Volution Immuno Pharmaceuticals presented this information:

- ALN-CC5 from Alnylam
- Compstatin from Apellis
- OMS721 from Omeros
- Coversin from Volution

This should ideally result in a reduction of the price of Soliris from Alexion which would mean a better chance of access to it as well. Competition is always a good thing!

For more details on this, please click here

Each of these drugs acts in different ways but the end result would be similar - treatment of aHUS, at initial occurrence, subsequent occurrences, for kidney transplants etc. Another advantage of some of these drugs is that they could be administered by sub-cutaneous injection or even orally rather than the IV infusions that Soliris needs. There was also some talk about Alexion working on a sub-cutaneous version of Soliris.

All these drugs are still in early stages of development and clinical trials and may be years before they will be usable by patients in India. However, at least something is happening!

I also learnt of a new mutation that is implicated in aHUS - DGKE. This mutation unfortunately is not treatable by Soliris since it is not associated with complement activity.

Another important discussion that was had was the availability of complement inhibitors (currently only Soliris) in different countries. Here is a summary of the information:

Ideally, any patient should have access to a complement inhibitor (currently only Soliris) without having to pay out of pocket:

- At initial diagnosis
- Subsequent episodes
- During a Transplant and after to maintain the transplanted kidney

The following table summarises the situation in different countries with respect to this:

Country Status
France Full access
Italy Full access
UK Full access
Germany Full access
USA Full access
Russia Full access
Belgium Available for those with current aHUS activity, not available for transplants
Spain Available with some restrictions
Canada Available in some provinces and to others on a case by case basis
Netherlands Full access, future uncertain
Australia Available only for flairs and for a maximum of 12 months
India No access

*Full Access means access for all the above three situations

We had a good discussion on how to improve situations in countries where access is not complete.

Another discussion was had on the possibility of withdrawing Soliris and monitoring closely. This would reduce the cost per patient enabling more patients to get access to the drug. Patients were wary of this due to the risks involved.

Prof. Tim Goodship presented the history of aHUS treatment in the UK and said that currently a National Service has been created temporarily being managed by his team at Newcastle upon Tyne. The National Service is responsible to decide which patients should be given Soliris.

Overall, it was a great opportunity to meet so many others from different countries, each fighting the same battle. Here's a picture of the entire team:


Rare Disease Day 2015

Rare Disease Day is commemorated every year on the last day of February. From the Rare Disease Day website:

"The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients' lives."

What can you do on Rare Disease Day?

A lot!

For starters, you could change your Facebook and Twitter profile pictures to the Rare Disease Day logo which is available here. This will raise some questions among your friends and family about the day and you could explain.

You could also write a blog post on the topic.

There could also be a Rare Disease Day event in your city which you could participate in.

There is very little awareness about rare diseases in India. It is important for people to know about this. If people get to know, it would be that much easier to convince law-makers and people in important, influential positions to bring about change that would help patients afflicted by rare diseases.

Here is a link to the poster of this year's Rare Disease Day.

The Atypical HUS alliance website is live!

The website for the Global Alliance for Atypical HUS is up! Well, it is still under construction and has only the home page now but it will soon be completed with a lot more content. I am happy to let you know that Kamal from Atypical HUS India is a part of the group that is working on this website!

Check it out here.

Two case reports on aHUS after transplant

For those who have progressed to ESRD after aHUS, the possibility of a transplant is the most important question. Here is an article that reviews two cases of transplants in aHUS patients.

aHUS Global Alliance Meeting videos up on RareConnect

The aHUS Global Alliance had its meeting at Paris in November. As you might be aware, aHUS India also participated in the meeting via Videoconferencing. The videos of the meeting are now out and have been uploaded to Rare Connect, the umbrella organisation for all Rare Disease support groups from around the world.

You can access the videos here.

aHUS India's video is also up there!