I can't remember where I read it, though I'm pretty sure that it was someone in your situation *: By far the easiest non-technical solution is to make it as easy as possible (logistically) for medical research companies to find a suitable cohort to test the intervention on.
As you note with a patient pool of the order of hundreds, they are likely to be very scattered and so if you can get together a cohort for a medical trial, it makes it much easier for Pharmaceutical companies to test repurposed drugs against that cohort.
* I think it was linked to here on HN. Apologies for the shoddy search terms but the only things I can remember about their story was: the parents both dropped out of software jobs to get biochem (or biomed?) PhDs to research the disease (don't remember what) and the ease of cohort accessibility was their number one takeaway for their retrospective blog post(?). If you can find that blog post its well worth a read for all the non-technical (i.e. logistical/financial etc.) aspects of rare disease research.
Trial recruitment is definitely one the hardest parts of running a successful trial. With rare diseases reaching out with existing patient groups is one of the most successful recruitment mechanisms.
> ease of cohort accessibility was their number one takeaway
A good friend of mine founded a startup to try and solve this and I was about to join her full time when the pandemic unfortunately crushed it, especially as they couldn't find a real business model.
It would be quite interesting as a non-profit entity though.
Out of curiosity, what business model were they trying? A few years back we were looking into virtual trial site companies (e.g. Science 37), and the pitch seemed to make sense at the time (focus on studies which require minimal site visits, use telemedicine for routine visits, coordinate with local labs and pharmacies as needed). That structure might be a good fit for rare patient cohorts.
I believe they call it "derisking" for the companies. It's a topic mentioned a lot on Ethan's genefixers clubhouse meetings. As you summarized, it's a very important topic. For anyone interested, the episode with Dr Allyson Berent is a masterclass about this. https://www.clubhouse.com/room/Md8njknG?utm_medium=ch_room_x...
As you note with a patient pool of the order of hundreds, they are likely to be very scattered and so if you can get together a cohort for a medical trial, it makes it much easier for Pharmaceutical companies to test repurposed drugs against that cohort.
* I think it was linked to here on HN. Apologies for the shoddy search terms but the only things I can remember about their story was: the parents both dropped out of software jobs to get biochem (or biomed?) PhDs to research the disease (don't remember what) and the ease of cohort accessibility was their number one takeaway for their retrospective blog post(?). If you can find that blog post its well worth a read for all the non-technical (i.e. logistical/financial etc.) aspects of rare disease research.