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11 Results Found

  • Brief Report
  • Open Access
6 Citations
2,790 Views
9 Pages

Afamelanotide for Treatment of the Protoporphyrias: Impact on Quality of Life and Laboratory Parameters in a US Cohort

  • Rebecca K. Leaf,
  • Hetanshi Naik,
  • Paul Y. Jiang,
  • Sarina B. Elmariah,
  • Pamela Hodges,
  • Jennifer Mead,
  • John Trinidad,
  • Behnam Saberi,
  • Benny Tran and
  • Amy K. Dickey
  • + 4 authors

28 May 2024

Background: Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are rare disorders of heme biosynthesis characterized by severe cutaneous phototoxicity. Afamelanotide, an α-melanocyte-stimulating hormone analogue, is the only...

  • Article
  • Open Access
6 Citations
4,912 Views
15 Pages

Afamelanotide Is Associated with Dose-Dependent Protective Effect from Liver Damage Related to Erythropoietic Protoporphyria

  • Anna-Elisabeth Minder,
  • Xiaoye Schneider-Yin,
  • Henryk Zulewski,
  • Christoph E. Minder and
  • Elisabeth I. Minder

21 April 2023

In animal models, melanocyte-stimulating hormones (MSHs) protect the liver from various injuries. Erythropoietic protoporphyria (EPP), a metabolic disorder, leads to the accumulation of protoporphyrin (PPIX). In addition to the most prominent symptom...

  • Article
  • Open Access
7 Citations
3,773 Views
15 Pages

Quality-Adjusted Life Years in Erythropoietic Protoporphyria and Other Rare Diseases: A Patient-Initiated EQ-5D Feasibility Study

  • Jasmin Barman-Aksözen,
  • Anna-Elisabeth Minder,
  • Francesca Granata,
  • Mårten Pettersson,
  • Cornelia Dechant,
  • Mehmet Hakan Aksözen and
  • Rocco Falchetto

Erythropoietic protoporphyria (EPP) is an ultra-rare inborn error of metabolism characterised by painful phototoxic burn injuries after short exposure times to visible light. Patients with EPP are highly adapted to their condition which makes the qua...

  • Article
  • Open Access
11 Citations
4,704 Views
14 Pages

31 March 2023

Antibiotic resistance is a critical problem that results in a high morbidity and mortality rate. The process of discovering new chemotherapy and antibiotics is challenging, expensive, and time-consuming, with only a few getting approved for clinical...

  • Review
  • Open Access
15 Citations
5,784 Views
18 Pages

Porphyrias in the Age of Targeted Therapies

  • Angelika L. Erwin and
  • Manisha Balwani

29 September 2021

The porphyrias are a group of eight rare genetic disorders, each caused by the deficiency of one of the enzymes in the heme biosynthetic pathway, resulting in the excess accumulation of heme precursors and porphyrins. Depending on the tissue site as...

  • Review
  • Open Access
67 Citations
19,951 Views
18 Pages

Vitiligo, from Pathogenesis to Therapeutic Advances: State of the Art

  • Federico Diotallevi,
  • Helena Gioacchini,
  • Edoardo De Simoni,
  • Andrea Marani,
  • Matteo Candelora,
  • Matteo Paolinelli,
  • Elisa Molinelli,
  • Annamaria Offidani and
  • Oriana Simonetti

Vitiligo is an acquired hypopigmentation of the skin due to a progressive selective loss of melanocytes; it has a prevalence of 1–2% and appears as rounded, well-demarcated white macules. The etiopathology of the disease has not been well defin...

  • Review
  • Open Access
65 Citations
10,803 Views
15 Pages

2019 FDA TIDES (Peptides and Oligonucleotides) Harvest

  • Danah Al Shaer,
  • Othman Al Musaimi,
  • Fernando Albericio and
  • Beatriz G. de la Torre

2019 has been an excellent year in terms of peptides and oligonucleotides (TIDES) approved by the FDA. Despite the drop in the number of total drugs approved by the FDA in 2019 in comparison with 2018 (48 vs. 59), the total number of TIDES authorized...

  • Review
  • Open Access
29 Citations
8,280 Views
13 Pages

Etiopathogenesis and Emerging Methods for Treatment of Vitiligo

  • Tomasz Iwanowski,
  • Karol Kołkowski,
  • Roman Janusz Nowicki and
  • Małgorzata Sokołowska-Wojdyło

Vitiligo is an acquired chronic depigmenting disorder of skin. It is mostly asymptomatic and characterized by amelanotic macules and patches that affects 0.5% to 2% of the world’s population. The etiology of vitiligo has not been clearly elucid...

  • Review
  • Open Access
32 Citations
11,679 Views
27 Pages

Vitiligo: Pathogenesis and New and Emerging Treatments

  • Javier Perez-Bootello,
  • Ruth Cova-Martin,
  • Jorge Naharro-Rodriguez and
  • Gonzalo Segurado-Miravalles

9 December 2023

Vitiligo is a complex disease with a multifactorial nature and a high impact on the quality of life of patients. Although there are multiple therapeutic alternatives, there is currently no fully effective treatment for this disease. In the current er...

  • Article
  • Open Access
3 Citations
2,610 Views
14 Pages

Fair Funding Decisions: Consistency of the Time Horizons Used in the Calculation of Quality-Adjusted Life Years for Therapies for Very Rare Diseases by the National Institute for Health and Care Excellence in England

  • Jasmin Barman-Aksözen,
  • Nicole Hentschel,
  • Mårten Pettersson,
  • Eva Schupp,
  • Francesca Granata,
  • Cornelia Dechant,
  • Mehmet Hakan Aksözen and
  • Rocco Falchetto

The National Institute for Health and Care Excellence (NICE) in England uses quality-adjusted life years (QALYs) to assess the cost-effectiveness of treatments. A QALY is a measure that combines the size of the clinical benefit of a treatment with th...

  • Review
  • Open Access
2,515 Views
26 Pages

Polymorphism of Melanocortin Receptor Genes—Association with Inflammatory Traits and Diseases

  • Mainak Bardhan,
  • Ayush Anand,
  • Amaan Javed,
  • Maria Andrea Chilo,
  • Nida Khan,
  • Tulika Garg,
  • Arihant Surana,
  • Helen Huang,
  • M M Samim and
  • Tithishri Kundu
  • + 3 authors

16 September 2025

Melanocortin receptors (MCRs) are responsible for various functions ranging from skin pigmentation, regulation of appetite, stress response and cognition, steroid synthesis, and energy balance to cellular regeneration and immunomodulation. The geneti...