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Expert Interview

Slingshot members are talking to an expert! The topic is:

Investigating the Potential of Afamelanotide (Clinuvel), Ruxolitinib (Incyte), Cerdulatinib (Dermavant), ATI-502 (Aclaris), and Dupilumab (Sanofi/Regeneron) for Treating Albinism Based on Current Indications

Ticker(s): ACRS, CLVLF, INCY

Who's the expert?

An ophthalmologist or medical geneticist specializing in albinism, specifically OCA1. The expert should have in-depth knowledge of albinism's genetic and ocular aspects, with insights into both current and emerging treatments, including therapies aimed at improving vision and pigmentation.

Interview Questions
Q1.

Recent studies suggest that nitisinone increases melanin production in individuals with OCA. Could you elaborate on the effects observed in OCA1 patients, particularly in relation to visual development and skin pigmentation?

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Q2.

There have been promising animal studies administering treatments during the womb stage to address visual issues in albinism. What are the prospects of translating these findings to human OCA1 cases, and what challenges do you foresee?

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Q3.

A study from the Netherlands showed patients with OCA4 having normal visual acuity and optic nerve routing despite the lack of melanin. Do you think similar cases could emerge in OCA1, and what could this mean for understanding and treating visual deficits?

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Q4.

Gene therapy for albinism is still in its early stages. How close are we to seeing this approach in human trials for OCA1, and what are the key genetic challenges that need to be addressed

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Q5.

There is speculation that nitisinone might be more effective in children due to their ongoing visual development. Based on current studies, how promising is this approach for pediatric OCA1 patients, and what should parents consider before joining a clinical trial?

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Q6.

Nitisinone treatment requires limiting certain proteins in the diet. Could you explain the dietary management needed for OCA1 patients on nitisinone and how it might impact long-term health and development?

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Q7.

Pharmacological chaperones are being investigated to help misfolded proteins reach their proper cellular location. How promising is this therapy for OCA1, and what would success look like in terms of visual or pigmentation improvements?

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Q8.

there is a critical window in early childhood where retinal development in albinism can still be modulated. How does this concept of neuroplasticity in the albino retina compare to amblyopia treatment, and what factors determine the optimal timing for L-DOPA intervention?

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Q9.

L-DOPA has shown promise in improving retinal development in animal models of albinism. What are the key challenges in translating these findings to human trials, and what are your expectations regarding the efficacy of L-DOPA supplementation in enhancing visual function in children with albinism?

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Q10.

Given that both Cerdulatinib and ATI-502 target JAK pathways to reduce depigmentation in vitiligo, could these JAK inhibitors also be studied for their potential to address the lack of pigmentation or other immune-related complications seen in certain forms of albinism?

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Q11.

Could Afamelanotide (Scenesse) and Ruxolitinib (Opzelura), which are currently used to treat light sensitivity in EPP and depigmentation in vitiligo respectively, be investigated for their potential to enhance melanin production or protect against UV damage in individuals with OCA1 albinism?

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Q12.

Considering that Dupilumab (Dupixent) is being researched for its effects on skin depigmentation in conditions like eczema and vitiligo, and Afamelanotide (Scenesse) promotes melanin production in light-sensitive conditions, could a combined or similar mechanism of immune modulation and melanin stimulation be beneficial for treating or managing symptoms of albinism?

Added By: slingshot_insights

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