Diving into the Developmental Milestone Survey with Dan Gallo and Tessa Clarkson from Jaguar Gene Therapy

So families may have various understanding or familiarity with the Developmental Milestone Survey.

So before we get into those nitty gritty details, give us kind of a brief overview of what the Developmental Milestone is.

Sure, happy to.

So our ultimate goal here with this study is to help accelerate drug development for individuals with PMS.

We want to be able to collect data that can help inform clinical trial outcomes that could ultimately support an approval while recognizing and helping to overcome some of the challenges that often in rare diseases when you're trying to develop a treatment you might face.

So in order to do this, we understand that the FDA has certain requirements for drug approval, and these can include that clinical trials be adequate, well-controlled studies that ultimately have to demonstrate what regulators call substantial evidence of drug effectiveness and safety.

In these types of studies, we have to show that the drug's benefit is clinically meaningful and that the changes seen are statistically significant.

And so designing these kinds of studies can be a challenge, especially in rare diseases, for a number of reasons.

First, by definition, rare diseases often affect a smaller number of people, and so that makes it a challenge to run larger clinical trials.

Second, with rare diseases, you often see that the disease itself is heterogeneous.

And so the way it affects one individual may be different from how it affects another individual.

And that makes it a challenge to measure treatment benefit in a uniform way.

So traditional measures that are often used for clinical trials may not be useful in the rare disease space.

Our goal in collecting natural history here on milestone attainment is to evaluate how milestones are attained in individuals with PMS specifically.

And then this knowledge can help inform potential clinical trial design that would enable us to evaluate treatment benefit in a clinically meaningful way by looking at developmental milestones.

And we say clinically meaningful because developmental milestones by nature are inherently meaningful.

They often reflect activities of daily living.

And so by looking at this type of outcome, this could help us overcome some of these challenges, could also potentially help us eliminate the need for a placebo control in a trial, could also help us potentially design a study that's looking at a smaller number of participants.

Ultimately, the goal, as I said, is to accelerate drug development and help us get to an improved treatment sooner.

Yeah, I really appreciate that overview.

I think it hopefully helps really clarify for our families what this is.

And so while it is separate from JAG 201, the things you're doing here really are trying to accelerate sort of the progress, like you said there.

And we've talked a number of times on this podcast about how hard it is to measure symptoms and change in Phelan-Mederman syndrome.

And so I think it's this design and the study is really important because it's really capturing those developmental milestones.

And you talked about clinically meaningful.