Dear fellow patients, loved ones, and supporters,
We are pleased to inform you of more significant progress towards scientific understanding and awareness of Post-Finasteride Syndrome.
Upcoming scientific research: Opening a new line of scientific investigation
As you may have already heard, our first scientific study at The University of Kiel is already underway. The objective of these efforts is to uncover more pathomechanistic clues about the disease - a necessary step to gain a better understanding of why the findings of significant and widespread gene deregulation demonstrated by Baylor might be occurring.
To gain a complete understanding of this disease, however, we are now going to be looking into possible predisposition(s) to PFS. Today, we are announcing new research to support this objective, provisionally titled Investigating genetic factors involved in the development and onset of Post-Finasteride Syndrome.
Tampere University in Finland will begin investigating possible genetic factors involved in developing Post-Finasteride Syndrome. This research will continue building upon the important results from Baylor College of Medicine. These landmark findings demonstrated significant deregulation of gene expression in PFS patient tissue which correlated to observed biological differences in patients and their self-reported symptoms. While Baylor’s results indicate a what, we need to continue expanding into the why with more modern investigative techniques.
These efforts, combined with those already underway at The Institute for Human Genetics in Germany, hope to provide a more complete understanding of PFS, and why some patients experience persistent and severe health problems after discontinuing finasteride.
In this study, researchers will use a technique known as Whole Genome Sequencing (WGS) to analyse a cohort of PFS patients, looking for potential genetic factors that may predispose patients to developing the disease. This type of study has been clearly recommended as an appropriate next step by multiple publications, including Baylor College of Medicine.
The aims of investigating possible genetic factors involved in PFS are:
- to understand the genetic predisposition to develop PFS
- to understand why some individuals are affected and some are not
- to prioritise genes implicated in the onset of the most common phenotypes
Understanding possible genetic factors involved in Post-Finasteride Syndrome could provide another path to accurate disease modelling in animals. Insights uncovered through research into patient genetics, along with potential insights from our existing line of scientific investigation, can contribute to establishing a disease model, with the objective of understanding the core pathomechanism and hopefully, an eventual target for precision medicine treatment of PFS.
An understanding of the predisposition will also:
- clearly establish which consumers are at risk of developing PFS
- help clinicians diagnose PFS faster and more accurately
Specifically, this study will use WGS to analyse the entire genome of 150 PFS patients compared to a group of healthy controls. WGS in principle allows the detection of disease relevant genomic variants beyond the exome such as DNA structural alterations, deep intronic variants, variants in non-coding regions, or repeat expansions and may improve variant calling in homologous sequences. It represents a novel, distinct diagnostic tool that targets genes and goes beyond the coding region and allows elucidation of established and novel non-coding genomic diseases.
The researchers involved in this project are accomplished in their fields and have a genuine interest in the disease. After extensive consultation and collaboration on our previous project, they are also aware of the multisystemic nature of PFS and other key peculiarities involved. The supervising lead, Dr Alfonso Urbanucci, has previously published in Cell reports evidence that overexpression of the AR is able to drive genome-wide chromatin relaxation and gene expression alteration in refractory prostate cancer. Collaborative input will be provided by Professor Johanna Schleutker, an accomplished geneticist.
We again appreciate any support that patients, loved ones and supporters can provide. We understand the scarcity of resources available in our community and do not take any decision about the allocation of those resources lightly. This is a path that has been recommended by almost every researcher we’ve consulted with, including preeminent researchers operating some of the largest facilities in the world.
Generously, researchers involved have again offered their support at a heavily discounted rate. We will not be required to pay salary cost for the researchers involved, which makes what would usually be quite-costly far more palatable.
As such, we are setting a fundraising target of €200,000. This has again been supplemented by the generous donations that supporters have continued to make even after the Kiel study was funded. While €200,000 is the “breakeven” figure for the study, we must again remind patients that research is largely a chicken-and-egg scenario. The more funds available, the easier it is to begin new research when insights become available.
PFS Network now a registered 501©(3) organisation
After many months of waiting, we are pleased to announce we have received 501c3 status in the United States. This means that all donations made from US tax residents are now tax-deductible. We believe this also means patients can retroactively make tax-deductible claims for donations over the previous years, but please check with a tax expert.
We will be prioritising patients who completed the patient survey for this study, in order of those most severely affected. If you participated in the survey, you will be receiving an email in the coming days with an invitation to participate. If you receive this email, please follow the link to the form provided.
Once we have exhausted this list, we will also be asking newer patients to come forward. When you apply, you will be asked to provide a link to your propeciahelp member story or Reddit profile so we can verify your post history and when you entered the community.
Please do not email or reach out until we have asked for more volunteers. We do not have the manpower to manually sort through applications.
As this study will be conducted remotely, it is vital we validate each participant is in fact a patient. It will also add weight to the study scientifically. For this reason, we are prioritising patients who completed our patient survey. This does not mean that you will not have a chance to participate if you didn’t complete the survey - it is highly likely we will not have 150 responses from survey participants.
This study requires 150 patient samples to go ahead. Control data will be provided by a data bank containing healthy controls that is frequently used for genetics studies. The material required will be a blood sample.
Collection can be done remotely, and will be managed by our partner Dante Labs, a highly-respected third-party company that provides sequencing services for large laboratories, hospitals and institutions. If you are interested, Dante will send you a blood collection kit via mail, which you will send back to their lab once complete. You do not need to leave your house to collect the sample and the kit is very straightforward to use. It will not cost you anything to participate.
Faces of the disease: New awareness campaign
After two decades, it finally feels like this disease is emerging from the shadows.
While public accounts were sporadic in decades prior, in recent years we’ve seen a surge in patients speaking openly about the devastating effects of PFS. It is immensely encouraging that this is happening beyond our own efforts.
After much delay, we have begun releasing the second season of our patient interview series on our YouTube channel. We will be releasing one episode a month for greater effect and we encourage you to share them widely, like and comment. These simple actions will help these accounts rank higher in search results on what is an important platform for awareness. Again, we are indebted to our five guests for their bravery.
Our group has consistently maintained that research is only one - albeit very important - path towards understanding and acceptance of this disease. Anonymous usernames on a forum can be easily dismissed, but real humans cannot. We encourage anyone interested in speaking out to come forward as we begin recording more episodes shortly.
This opportunity represents another significant step in bringing this disease out of the shadows. We hope you are able to support where possible.
Thank you again for your continued courage,
Mitch & the PFS Network team