Newborn Hearing Screening in the Otoferlin Gene Therapy Era

Yeah.

Well, thank you so much again for having us here.

So newborn hearing screening actually goes back several decades now and actually began back in 1993 with the NIH first recommending universal screening for all newborns.

Previously, it had only been done for certain high-risk scenarios.

After that, a few years later, the Joint Committee on Infant Hearing, which still exists today, actually further followed up and endorsed that universal detection with the goal of screening by one month, diagnosis by three months, and then intervention at six months, which is now kind of known as the 136 guidelines.

And then a few years later, this kept developing and actually led In the early 2000s, hearing loss became added as a condition to the federal recommended uniform screening panel, which is managed by the U.S. Department of Health and Human Services.

It includes several conditions for which early screening can provide meaningful treatment benefit, and hearing loss is one of those conditions.

And I'm sure throughout this conversation, we'll get into the sort of specifics of the different screening modalities.

But essentially, there are a few screening modalities recommended for hearing loss, and they're implemented a bit variably at the state level.

And the context for why this is relevant to our viewpoint is While newborn hearing screening has been really transformative as a public health measure in identifying thousands of infants every year with hearing loss, as new therapies emerge, most notably a gene therapy for a target called OTOF, this past year, we started to rethink how newborn hearing screening might need to evolve further to best detect infants who have congenital hearing loss caused by OTOF.

Yeah, and you kind of touched on it a little bit.

I did my residency training at the University of North Carolina, and I know that there was a statewide program.

Can you speak to some of the variability? Is it a state-to-state sort of application of newborn hearing screening? And what are the modalities that are contemporary for the newborn hearing screening process?

Yeah, so the recommended uniform screening panel is written at the federal level.

It's recommendations from the U.S. Department of Health and Human Services, and hearing loss is a condition on that recommended uniform screening panel and has been for several years

now.

So that is guidance, and it's not necessarily mandated from a legality standpoint at the federal level, but leaves it to states to refine and establish their own frameworks for newborn screening.

But those are the recommended conditions to include.

So all states do perform newborn hearing screening.

It's essentially universal now.

And in that recommended guidance that's established federally and also by the Joint Committee on Infant Hearing, which is further implemented by the Early Hearing Detection and Intervention Guidance, specifies two really primary types of newborn hearing screening modalities.

So the first is otoacoustic emissions, or OAE, and the second is automated auditory brainstem response, or AABR.

And these two screenings have two different functions.

OAEs measure outer hair cell function, and AABRs actually measure the electrical response through the auditory nerve and the brainstem pathway, so it's able to identify problems with the auditory nerve.

And right now, in the current guidance, it's recommended to do either of those two screenings at birth.

Yeah.

Well, thank you so much again for having us here.

So newborn hearing screening actually goes back several decades now and actually began back in 1993 with the NIH first recommending universal screening for all newborns.

Previously, it had only been done for certain high-risk scenarios.

After that, a few years later, the Joint Committee on Infant Hearing, which still exists today, actually further followed up and endorsed that universal detection with the goal of screening by one month, diagnosis by three months, and then intervention at six months, which is now kind of known as the 136 guidelines.

And then a few years later, this kept developing and actually led In the early 2000s, hearing loss became added as a condition to the federal recommended uniform screening panel, which is managed by the U.S. Department of Health and Human Services.

It includes several conditions for which early screening can provide meaningful treatment benefit, and hearing loss is one of those conditions.

And I'm sure throughout this conversation, we'll get into the sort of specifics of the different screening modalities.

But essentially, there are a few screening modalities recommended for hearing loss, and they're implemented a bit variably at the state level.

And the context for why this is relevant to our viewpoint is While newborn hearing screening has been really transformative as a public health measure in identifying thousands of infants every year with hearing loss, as new therapies emerge, most notably a gene therapy for a target called OTOF, this past year, we started to rethink how newborn hearing screening might need to evolve further to best detect infants who have congenital hearing loss caused by OTOF.

Yeah, and you kind of touched on it a little bit.

I did my residency training at the University of North Carolina, and I know that there was a statewide program.

Can you speak to some of the variability? Is it a state-to-state sort of application of newborn hearing screening? And what are the modalities that are contemporary for the newborn hearing screening process?

Yeah, so the recommended uniform screening panel is written at the federal level.

It's recommendations from the U.S. Department of Health and Human Services, and hearing loss is a condition on that recommended uniform screening panel and has been for several years

now.

So that is guidance, and it's not necessarily mandated from a legality standpoint at the federal level, but leaves it to states to refine and establish their own frameworks for newborn screening.

But those are the recommended conditions to include.

So all states do perform newborn hearing screening.

It's essentially universal now.

And in that recommended guidance that's established federally and also by the Joint Committee on Infant Hearing, which is further implemented by the Early Hearing Detection and Intervention Guidance, specifies two really primary types of newborn hearing screening modalities.

So the first is otoacoustic emissions, or OAE, and the second is automated auditory brainstem response, or AABR.

And these two screenings have two different functions.

OAEs measure outer hair cell function, and AABRs actually measure the electrical response through the auditory nerve and the brainstem pathway, so it's able to identify problems with the auditory nerve.

And right now, in the current guidance, it's recommended to do either of those two screenings at birth.