Assessing interest for second PFS Network study

[Sugarhouse]

Hello all,

We are pleased to let you know PFS Network has been in discussions about conducting a second study alongside the planned study in Kiel. While the details are still unclear, it would most likely be a genetic sequencing study, possibly a Whole Genome Sequencing. This could possibly identify the potential involvement of genetic factors in the development of PFS.

The researchers involved are excellent and will be using advanced sequencing technology. We are thrilled that they have also indicated partial grant funding may also be possible, reducing the funding burden. Please note it is early stages and there are many things to iron out in order for this to take place.

Such a study requires statistical power in order to yield significant results. While only 25 samples are required for the research in Kiel, we would likely need upwards of 100 patients for a WGS to take place. Before we can go any further, we need to ascertain how many patients would be willing to give a sample.

Patients would be required to have a blood sample taken which would be shipped to the research centre in Europe. It is a very basic procedure which would likely be available at your local GP or if not, a hospital. The cost of having the sample taken is also minimal.

Thankfully, the selection criteria is not as onerous as the Kiel study - patients can be of any age, symptom profile and there is no restriction based on how long you took the drug. You do not need to travel to Europe. Therefore, we ask all patients to apply. We will be prioritising those who have completed the patient survey as their symptom data is already available for any subsequent publication.

If you are interested, please send us an email to contact@pfsnetwork.org. All you need to provide is the email address you completed the survey under, and indicate whether you can participate.

This development represents another significant step forward for our community. We encourage all patients to get involved.

Thank you,
PFS Network team

[Erik]

Amazing momentum from the Network! Thanks again Mitch and Axo

[bringitback]

How does it explain people like me who went on and off the drug or whatever 5ari?

I don’t think we were set up to fail, many users had tried it multiple times or other 5ari substances.

[Sugarhouse]

I’m not sure I understand your question sorry - can you clarify what you mean?

I think you’re asking how would a study into patient genetics be useful. Given the rarity of the disease (millions take finasteride and other 5ARIs every day and do not develop PFS upon discontinuation), patients are almost certainly predisposed to developing PFS. Otherwise extremely high percentages of those taking the drug would develop PFS at some point - that simply isn’t happening.

A plausible explanation for this could lie in the genome. Just because patients may have gone on and off the drug several times before developing PFS does not mean they are not predisposed - there could be a number of reasons it took them longer to develop symptoms than others. Some patients take the drug once and develop catastrophic symptoms in every symptomatic domain, others take it for years before developing a small number of symptoms which could be characterised as more mild.

Hope that helps.

[overkilled]

How would this proposed study differ from the 23andMe project from years past? What gives us confidence that this analysis could show a significant finding where that analysis did not?

Also, is there any estimate for how much this proposed study might cost?

[Dubya_B]

That was an amateur project based on snp genotyping, rather than sequencing. We only moved forward with it because it was completely free beyond the cost sunk by participants toward their 23andMe kits and there was a slim chance of finding something worth approaching a scientist about for further investigation.

Essentially, sequencing is much, much, more thorough and more likely to discover a novel association between genetic make-up and susceptibility to a disease.

WHOLE-GENOME SEQUENCING IS LIKE READING ALMOST EVERY LETTER OF ALMOST EVERY PAGE IN A BOOK TO HOPEFULLY LEARN SOMETHING NEW.

Genotyping is more like looking for certain words on certain lines on certain pages to see if something like defenSe is spelled with a C or an S. (And that’s how you can tell if the author is an American).

Joking a little, but that’s the gist of the difference.

[overkilled]

Thanks for the explanation. I am not hearing an answer about cost; I guess that is still to be determined.

Would sample collection be open only to members who took finasteride and no other substances?

[Erik]

Is it your understanding that certain people are genetically immune from developing PFS? Even if they were to start and stop the drug ad nauseum over a period of many years?

[Sugarhouse]

At this stage, cost is TBD. The first step is to assess interest to see if it’s even viable moving forward.

Sample collection would only be open to those who have taken finasteride, not other post-drug patients e.g PSSD, PAS.

[overkilled]

Thanks again for clarifying.

I am interested in participating and have responded via email. I encourage other finasteride users to do the same.

[Dubya_B]

@Erik, my understanding stops at the point where we see people who become severely ill after less than a week on their drug of choice. Then, I’ve read hundreds of anecdotes of people crashing after consecutive rounds or after years of treatment. A presumption that there are people out there who are constantly taking breaks.

No one has a motive to say “I constantly stop and start a prescription drug and nothing noteworthy happens.” After all, that’s how it is supposed to work according to the medical and pharmaceutical industries. Nothing like PFS is ever supposed to happen.

What’s differentiates this spectrum of drug responses, if not genetics, or at least a strong genetic component in determining how little it takes to tip the scale to severe symptoms?

The fact that the scientists undertaking the current PFS study are preferentially recruiting according to rapidity and severity gives me confidence. Assuming they would do the same for a genetic study if there were sufficient volunteers to be selective, but I haven’t been speaking with those scientists directly.

[pokertje]

I’m able to participate.