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Real-world assessment of the patient profile, clinical characteristics, treatment patterns, and outcomes associated with erythropoietic and X-linked protoporphyria.
J Dermatol
January 2025
Mitsubishi Tanabe Pharma America, Inc., Jersey City, New Jersey, USA.
Article Synopsis
- Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are rare genetic disorders that lack comprehensive management data, prompting a study of their characteristics and treatment in real-world U.S. settings.
- The study reviewed medical records of 299 EPP and 91 XLP patients, revealing a mean diagnosis delay of 2.9 years and highlighting common pre-diagnostic tests and lifestyle recommendations.
- Findings indicated a significant number of healthcare visits post-diagnosis and identified unmet needs, such as the need for quicker diagnoses, effective symptom relief, and better prevention of phototoxic reactions.
Unraveling Microviscosity Changes Induced in Cancer Cells by Photodynamic Therapy with Targeted Genetically Encoded Photosensitizer.
Biomedicines
November 2024
Institute of Experimental Oncology and Biomedical Technologies, Privolzhsky Research Medical University, Minin and Pozharsky Square, 10/1, 603005 Nizhny Novgorod, Russia.
Background: Despite the fundamental importance of cell membrane microviscosity, changes in this biophysical parameter of membranes during photodynamic therapy (PDT) have not been fully understood.
Methods: In this work, changes in the microviscosity of membranes of live HeLa Kyoto tumor cells were studied during PDT with KillerRed, a genetically encoded photosensitizer, in different cellular localizations. Membrane microviscosity was visualized using fluorescence lifetime imaging microscopy (FLIM) with a viscosity-sensitive BODIPY2 rotor.
(Photo)toxicity of Partially Oxidized Docosahexaenoate and Its Effect on the Formation of Lipofuscin in Cultured Human Retinal Pigment Epithelial Cells.
Antioxidants (Basel)
November 2024
School of Optometry and Vision Sciences, Cardiff University, Cardiff CF24 4HQ, Wales, UK.
Docosahexaenoate is a cytoprotective ω-3 polyunsaturated lipid that is abundant in the retina and is essential for its function. Due to its six unsaturated double bonds, docosahexaenoate is highly susceptible to oxidation and the formation of products with photosensitizing properties. This study aimed to test on cultured human retinal pigment epithelial cells ARPE-19 the (photo)cytotoxic potential of partly oxidized docosahexaenoate and its effect on the formation of lipofuscin from phagocytosed photoreceptor outer segments (POSs).
View Article and Find Full Text PDFMulti-Characteristic Opsin Therapy to Functionalize Retina, Attenuate Retinal Degeneration, and Restore Vision in Mouse Models of Retinitis Pigmentosa.
Transl Vis Sci Technol
October 2024
Nanoscope Technologies LLC, Bedford, TX, USA.
Article Synopsis
- The study evaluated the impact of a viral vector-delivered multi-characteristic opsin (MCO-010) on vision in two mouse models of retinitis pigmentosa (rp1 and rp10), focusing on both structural and functional outcomes.
- MCO-010 was injected into the eyes of the mice, resulting in successful transduction of about 80% of bipolar cells without affecting retinal thickness, while control mice showed thinning.
- The treatment improved behavior and visual response in the mice without causing toxicity under challenging conditions, suggesting it could help slow retinal degeneration.
Article Synopsis
- Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are rare conditions causing severe skin reactions to sunlight, and afamelanotide is the only approved treatment that enhances light tolerance and quality of life (QoL).
- A study conducted at Massachusetts General Hospital evaluated 29 adults who received afamelanotide, showing that patients experienced significant increases in time before phototoxic symptoms appeared after sunlight exposure, indicating improved light tolerance.
- Despite these benefits in light tolerance and QoL, the treatment did not result in improvements in laboratory markers of protoporphyria or liver function.
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