Results 71 to 80 of about 27,170 (181)

Collaboration as a Catalyst for Advancing Rare Disease Research: The Experience of the Rare Diseases Clinical Research Network

Clinical and Translational Science, Volume 19, Issue 6, June 2026.
ABSTRACT The Rare Diseases Clinical Research Network (RDCRN) was established to improve diagnosis, treatment, and research collaboration across rare diseases through collaborative, multi‐site, translational, and clinical research. Its governance framework promotes efficient data sharing and collaboration among research consortia, NIH representatives ...
Mirna Chehade, Sheridan Meyers, Talaya McCright‐Gill, Rogerwene Gifford, Mustafa Sahin, Michael E. Shy, Michele Manion, Dakota Campbell, Marc E. Rothenberg, Maurizio Macaluso   +9 more
wiley   +1 more source

Ferrochelatase gene polymorphism analysis for accurate genetic counselling in erythropoietic protoporphyria

, 2002
It has recently been shown that most cases of clinically overt erythropoietic protoporphyria (EPP) result from coinheritance of a mutated ferrochelatase gene and a commonly occurring low-expression normal variant allele.
Hawk, J L M, Mason, N G, Sarkany, R P E, Elder, G H, Morris, S D   +4 more
core   +1 more source

Seasonal variations in erythropoietic protoporphyria patients’ responses about sun behaviour, symptoms, and treatment effect

Photodiagnosis and Photodynamic Therapy
Patients with erythropoietic protoporphyria (EPP) have highly variable, increased levels of erythrocyte protoporphyrin IX (PpIX). Upon exposure to visible light, the PpIX is released from the erythrocytes to the skin, producing phototoxic reactions ...
H.C. Wulf, P.A. Philipsen, C.M. Lerche
doaj   +1 more source

Development and content validation of a sunlight exposure diary in patients with erythropoietic protoporphyria

Journal of Patient-Reported Outcomes, 2023
Background Erythropoietic protoporphyria is a rare, inherited disorder presenting in early childhood with severe, painful phototoxicity. EPP has significant impacts on health-related quality of life, though there is variable disease severity.
Susan D. Mathias, Laurie Burke, Hilary H. Colwell, George Mensing, Will Savage, Hetanshi Naik   +5 more
doaj   +1 more source

Molecular epidemiology of erythropoietic protoporphyria in the U.K.

, 2010
Background: Erythropoietic protoporphyria (EPP) is a cutaneous porphyria caused by mutations in the ferrochelatase (FECH) or, less frequently, the delta-aminolaevulinate synthase 2 (ALAS2) gene.
Badminton, Michael Norman, Mason, Nicola G., Holme, S. Alexander, Anstey, Alexander Vincent, Elder, George H., Whatley, Sharon D., A.V. Anstey, G.H. Elder, N.G. Mason, S.D. Whatley, S.A. Holme, M.N. Badminton   +11 more
core   +1 more source

Visible Light‐Induced Pigmentation: Improved In Vivo Methodology for Measuring Efficacy of 30 Products in 9 Randomised Controlled Trials and Correlation With In Vitro Assessment

Experimental Dermatology, Volume 34, Issue 9, September 2025.
ABSTRACT As hyperpigmentation can worsen with exposure to ultraviolet (UV) and visible light (VL), sunscreens with well‐balanced UVB/UVA protection and VL‐blocking pigments are recommended. Assessing efficiency against VL‐induced pigmentation is then mandatory.
Pascale Renoux, Hussein Jouni, Clément Laloux, Rita Touti, Diane‐Lore Vieu, François Lamarche, Silvia Morim Santos, Françoise Bernerd, Claire Marionnet   +8 more
wiley   +1 more source

Sunscreen and Photoprotection Habits for Patients With Porphyria and Non‐Porphyric Photosensitivity Conditions

Photodermatology, Photoimmunology &Photomedicine, Volume 41, Issue 4, July 2025.
ABSTRACT Background/Objectives Individuals with photosensitivity diseases, including porphyria, face significant challenges in managing their condition due to heightened sensitivity to ultraviolet (UV) and visible light. Comprehensive photoprotection strategies are essential and prioritize environmental modifications, behavioral adjustments, protective
David Bajek, Robert Dawe, Ewan Eadie, Victoria A. McGuire, Sally Ibbotson   +4 more
wiley   +1 more source

Increased phototoxic burn tolerance time and quality of life in patients with erythropoietic protoporphyria treated with afamelanotide – a three years observational study

Orphanet Journal of Rare Diseases, 2020
Background Erythropoietic protoporphyria (EPP) is an ultra-rare genetic disorder (prevalence 1:150`000) characterized by instant painful phototoxic burn reactions in skin exposed to visible light.
Jasmin Barman-Aksözen, Michèle Nydegger, Xiaoye Schneider-Yin, Anna-Elisabeth Minder   +3 more
doaj   +1 more source

Patient empowerment and access to medicines: Insights from a scientist-patient suffering from erythropoietic protoporphyria

Medicine Access @ Point of Care, 2019
Patient representation during the evaluation of medicines by key decision makers such as regulatory agencies, Health Technology Assessment bodies, and healthcare payers is increasingly considered to add value to the appraisals and empowers patients ...
Jasmin Barman-Aksözen
doaj   +1 more source

Afamelanotide for treating erythropoietic protoporphyria

, 2017
The company submission (CS) presents evidence of the clinical and cost effectiveness of afamelanotide (SCENESSE®) for adult patients with erythropoietic protoporphyria (EPP) above the age of 18 years old compared to best supportive care.
Lord, Joanne, Onyimadu, Oluchukwu, Gaisford, Wendy C., Rose, Micah J., Shepherd, Jonathan, Frampton, Geoffrey   +5 more
core   +1 more source