PharmaShots Interview: Janssen's Nan Li Shares Insights on the Data Presented at ISPOR 2021

In an interview with PharmaShots, Nan Li, Director of Access, Janssen Retina DAS shared her views on the attempts to quantify the economic burden of X-linked retinitis pigmentosa and achromatopsia.

Shots:

Janssen presented two posters on the economic burden and impact on people living with inherited retinal diseases X-linked retinitis pigmentosa (XLRP) and achromatopsia at ISPOR 2021
These data show, in effect, how much we don't know about the many challenges faced by patients with early-onset and progressive vision loss due to XLRP, and with reduced visual acuity and photoaversion brought on by achromatopsia
Janssen strives to make a difference by discovering and developing transformational therapies that have an unequivocal advantage over the current standard of care, and by seeking earlier interventions in disease management that will impact the quality of life for patients

Tuba: Discuss the key highlights of the abstracts presented at ISPOR 2021.

Nan Li: At ISPOR 2021, Janssen presented two posters on the economic burden and impact on people living with inherited retinal diseases X-linked retinitis pigmentosa (XLRP) and achromatopsia. These data show, in effect, how much we don't know about the many challenges faced by patients with early-onset and progressive vision loss due to XLRP, and with reduced visual acuity and photo aversion brought on by achromatopsia.

For example, we couldn't identify any studies of the humanistic or economic burden of the XLRP form of retinitis pigmentosa (RP). We learned that the progressive trajectory of RP, in general, led people to report feelings of loss, isolation, and fear, loss of vision-related hobbies and pastimes, productivity loss, and loss of social support.

With achromatopsia, the qualitative studies and patient testimonies we analyzed showed a lifelong negative impact on education, employment opportunities, the ability to carry out daily activities, and travel. That said, quantitative studies of the impact of achromatopsia on patients quality of life and on society are lacking.

Tuba: Why these studies are a call-to-action to the scientific community for more research on inherited retinal diseases and the individuals impacted by them.

Nan Li: The identification of this gap in research is an important first step in assessing how best to support people with these conditions. The therapies currently in development are crucial, but we also need to know the myriad ways that they can improve the lives of patients and families.

We must recognize that there is so much more to uncover and know about these conditions and the people living with them. Right now, we're working with patient advocacy groups to generate more evidence about the cost-of-illness and looking closely at patient and caregiver well-being, including the emotional burden of disease. For example, last year we partnered with Retina International on a study to estimate the societal disease burden and economic impact of inherited retinal diseases in the U.S. and Canada.

As we look ahead, our Janssen team anticipates initiating more research on these topics hand-in-hand with our stakeholders and partners.

Tuba: Put some colors on XLRP and achromatopsia.

Nan Li: Both XLRP and achromatopsia are very rare inherited retinal diseases with an astounding unmet need. Currently there are no approved treatments for either disease, which is devastating for patients and their families.

XLRP is a genetic disease that causes progressive vision loss, which impacts an estimated one in 40,000 people. The first symptoms typically appear in adolescence, beginning with night blindness, followed by loss of peripheral vision and continuing constriction of the field of vision. It is most common in men because of the way the genes are passed down, and most patients are legally blind by age 40.

Achromatopsia is also a genetic disease. It affects an estimated one in 30,000 people, and results in loss of function in the eye's cone photoreceptors. People born with achromatopsia have multiple vision problems, including painful light sensitivity, poor visual acuity, absence of color vision and involuntary eye movement called nystagmus. Nystagmus often develops within the first several weeks of life and is commonly the first symptom noted by parents or pediatricians.

Tuba: What are Janssen's efforts to reduce the economic burden of these two inherited retinal diseases?

Nan Li: Janssen strives to make a difference by discovering and developing transformational therapies that have an unequivocal advantage over current standard of care, and by seeking earlier interventions in disease management that will impact quality of life for patients.

Tuba: What were the conclusions that have been drawn from the studies?

Nan Li: From our analysis, it's clear that so few studies of XLRP exist that conclusions can only be inferred from studies of the wider RP population. Those studies suggest that the earlier onset and progressive vision loss in XLRP may create a greater burden for patients and their caregivers than for RP. There is a dire need for more research.

In terms of achromatopsia, the current literature describes a significant impact of achromatopsia on those affected, but evidence of underdiagnosis suggests the societal burden may be more extensive than is recognized. Much more study is needed to understand and quantify the economic and humanistic burden more fully.

Tuba: Why is there a need to assess the burden of these retinal diseases?

Nan Li: Unfortunately, we continue to see very limited data on both XLRP and achromatopsia. As we look ahead, we need more real-world data in the inherited retinal disease space to underscore the need for these therapies and to highlight their potential to dramatically improve the lives of patients and caregivers. If researchers, regulators, and advocacy groups don't understand the vast need for these diseases, they may not truly realize the groundbreaking nature of potential treatments.

Tuba: What are the different gene therapies currently in an investigation for XLRP and achromatopsia?

Nan Li: At Janssen, our clinical-stage retinal portfolio includes leading product candidates, such as gene therapies, for inherited retinal diseases XLRP and achromatopsia, as well as treatments for more common eye diseases, including age-related macular degeneration, diabetic retinopathy, and diabetic macular edema.

Tuba: Is Janssen planning for any collaboration or some license agreements to expand its footprints in this rare field?

Nan Li: Janssen is committed to pioneering groundbreaking solutions that offer patients with retinal diseases a brighter future. We plan to bring therapies to patients with unprecedented speed and efficiency in both rare and common eye diseases.

Image Source: Sightsavers

About Nan Li

Nan serves as Global Market Access Director for Retina. In her role, Nan develops market access evaluation and strategy for assets in Janssen's retina pipeline and partners with internal and external stakeholders to generate evidence on unmet needs and disease burden in the retina space.

Prior to joining Johnson & Johnson, Nan was a research scientist at the Harvard T.H. Chan School of Public Health. Nan received her PhD in Public Health and MHS in biostatistics from Johns Hopkins Bloomberg School of Public Health and her MD from Beijing Medical University.