PAT LEADS PARENTS TO FIGHT DUCHENNE

Duchenne is a muscular dystrophy disease that causes hundreds of young men to die each year all over the world. But the battle against Duchenne is ongoing worldwide and yielding dividends – Many boys and men are living longer now and their lives have more quality says Pat Furlong, who founded the Parent Project for Muscular Dystrophy in the USA back in 1994.

Pat Furlong

Pat Furlong will be one of the speakers at Copperbergs Orphan Drugs Summit, taking place in the Netherlands on September 21st-23rd. This is an established meeting place for people involved in combatting rare diseases.

Duchenne though, is not extremely rare. It is estimated that around 1 in 4,600 people (almost only boys, though girls are carriers and can get mild disorders) are born with this disease. Duchenne muscular dystrophy affects the musculoskeletal system and greatly hampers locomotion amongst other things. – Around 250,000 patients worldwide are currently living with Duchenne muscular dystrophy, says Pat Furlong.
Back in the days, this disease was a tragic early death sentence that offered few ways of medication and little hope on any good quality of life for those affected. But many people around the world are now involved in trying to change that. Including Pat Furlong, whose two sons lost their lives as teenagers at a time when medication and research had not reached any reasonable levels of quality:

– My sons were diagnosed with Duchenne 30 years ago and they died at age 15 and 17, Pat says.
Now, modern research and science have resulted in considerably improved conditions for patients. Average life expectancy of Duchenne patients today is approaching 30 years.
– It is a variety of things that has changed the life expectancy of Duchenne. It’s not just medicine. The first thing that has changed the outcome is the use of steroids like Prednisone, and Deflatacort, which is available in Europe and just being approved in the US. This has extended the life expectancy by years in many cases.

But it is not just life expectancy that is being improved. – The young men using these steroids are able to raise their quality of life and they are walking longer, which has had a ripple effect on their overall health. The longer you can walk the better, as it maintains the stability of the spine, the integrity of the spine and the veneratory functions.  Pat-Furlong

Improved stability of bone health is also important in the fight against Duchenne. – The bones are very weak in Duchenne because of the weak muscles. So the bone density of patients is below normal. Many physicians are now using various interventions to really stabilize bone health, as well as doing more aggressive physical therapy, much more aggressive care of the cardio-respiratory non-invasive ventilation and intervening with ace inhibitors, beta blockers et cetera to protect heart function. 

But much remains to be done.
Parent Project Muscular Dystrophy (PPMD) has been working intensively for over 20 years to gather funding and to facilitate research, as well as influencing lawmakers and politicians. – We invest in cutting edge research. We advocate in Washington DC for resources to be allocated to this disease. For bench research, clinical trials, everything from newborn screening to improved care. And we certify Centre’s, so parents know the kind of care and the quality of care that they get at a Centre.

Due to activity from PPMD, as far back as in 2001 the “Muscular dystrophy care act (MD CARE Act)”, was passed and signed into law in the USA. It gets renewed every five years. This led to a US government investment in research and care for muscular dystrophy research of 500 million dollars.
– That galvanized the world, to be fair. More than 40 companies worldwide are now working with Duchenne muscular dystrophy. To find ways to replace the missing protein, and we are investing in robotics as well, to augment function.
But this kind of engagement is of course not the same at all in poorer countries. Even in Europe, conditions are appalling in some places.
– In general, there are never enough resources worldwide dedicated to Duchenne. In some countries in Eastern Europe, and in Ireland and Scotland, there is little to no government investment.

PPMD is global and connected to ”United Parent Projects, Muscular Dystrophy.
30 per cent of the time Duchenne occurs it is due to spontaneous mutation in the eggs, cell or sperm. Which means, that there will always be boys born with the disorder.

For Pat Furlong, to end Duchenne, means to stop its progression for every individual. And here, newborn screening plays a very important part.
– I don’t think we are there, yet. We’ve had some setbacks this year in terms of trials. But we can see the sun behind the trees. I am hoping in the next five or ten years, we are looking to end Duchenne (meaning the progression of Duchenne, once detected).

Copperbergs Orphan Drugs Summit is now being organized for the 6th time. Originally a Copenhagen event, this year’s summit, will take place in Amsterdam, Holland.
– An event like that helps in many ways. First of all, because people have the opportunity to join these meetings virtually or attending them in person, the audience is incredibly diversified-from patients, academics, companies and regulatory agencies, that otherwise would have not received your message says Pat Furlong. Reaching out, is extremely important.
– Whether that’s patients, whether that’s companies, whether that’s bench scientists, whether that’s government regulatory function. You reach an audience that you don’t collectively reach within your own country.
Exactly what comes out of this kind of interaction can differ, but invariably, it will be something positive.
– From my point of view, you never know when someone listening or sitting in the audience stands up and says, or thinks, ”Maybe I have a drug that can apply here, based on the past physiology that I have learned”. Or, ”Maybe I have an idea, that could apply here, that can really revolutionize, what they do in research”.

And there is of course the aspect from a regulatory perspective, that maybe the regulatory agency members, who are at an event or follow an event (or those, who have some hand in whether the drugs are approved or not), will get a better understanding of a disorder or a disease.
– Maybe, the people who provide access to the drugs or reimbursement, will say, ”OK, it’s reasonable with an expensive drug if you can stop the disease or have a great impact”.
And for Pat Furlong, there is the personal aspect as well:
– For me, maybe it’s one parent who’s has a child with Duchenne and is able to say, ”Oh, I learned something to improve the quality of their life. I learned about a clinical trial opportunity”.
There is a lot to be learned, from the roads that have been traveled by others:
– In the broad aspect of rare diseases, it’s about models that we have all created together, that can be applied to all rare diseases.