MDS 2021 | The MIND Initiative: molecular characterization in Parkinson’s disease

So I think that the reason is basically that the trials already are here. Right? And it’s possible as soon as a trial is successful, a treatment would be here. Our clinics are nowhere near able to kind of know at all who carries specific molecular markers. And our clinics are nowhere near ready, even less ready, to disclose that information back to patients in a way that would let them decide whether to elect to be in a trial. And so, I think this creates a problem. I think I said during this session, if you had cancer and you had gone through various chemotherapies and maybe you’re now at a metastatic stage of disease or something like that, where essentially the proven therapies are symptoms only, part of your care would be to know what clinical trials you might be eligible for. That is just kind of how cancer works. If you think about Parkinson’s disease, you’re already in that aspect of disease. You’re at the place where all we have are symptomatic therapies, and you might want to know what things you might be eligible for that would slow down or stop the progression of the disease. And the truth of the matter is that amongst the disease-modification trials, there’s a huge number of them that are directed at people with GBA, and LRRK2, but GBA is the subject of the session, at mutations. Yet in any given clinic it’s kind of hit or miss whether you have identified the people who have these mutations. And even if you have identified them as the scientist or researcher, it is a whole another hit or miss thing, whether the treating clinician and the patient themselves have this information.

And so that was the problem we set out to try to solve, to kind of get a clinic that’s ready for this aspect of precision medicine, knowing that you carry a specific mark, which makes you eligible for something specific. And that’s what led to the Molecular Integration in Neurological Diagnosis or MIND initiative which I, along with Tom Tropea, he is another movement disorders specialist and Assistant Professor at Penn. He and I launched MIND back in late 2018 and we essentially have a very clear goal just to enroll every single Parkinson’s disease patient seen at the University of Pennsylvania Parkinson’s Disease and Movement Disorders Center. So that’s about 2000 patients to be able to kind of obtain their DNA and for the large majority of them, before we had to go virtual because of COVID, a blood sample too, so that we could kind of characterize them both genetically and perhaps with respect to blood-based biomarkers.

And then the other piece of this was we wanted it to be precision medicine, not “Alice gets to know what mutations you have”. So we also had to build a way to ask the patients, would you possibly want to know your own status, and if you want to know your own status, we had to build a way to kind of disclose that back. And so to date, we’ve enrolled over a thousand patients. We have identified basically about 80 people who carry either a GBA or LRRK2 mutation that would make them trial eligible. We’ve started kind of the disclosure piece of this too and we’re studying methods of disclosure because we need to design an efficient disclosure method. And so that’s kind of what MIND is all about right now.