Track topics on Twitter Track topics that are important to you
I. Determine the long-term efficacy and safety of L-cysteine in the prevention photosensitivity in patients with erythropoietic protoporphyria.
PROTOCOL OUTLINE: This is a phase III study, lasting 3 years; 1996-1999. Patients are administered L-cysteine orally twice daily, 2 capsules with breakfast and 2 with lunch.
Patients fill in questionnaires and diary sheets about their reaction to sunlight exposure, and have blood tested 3 times a year.
Primary Purpose: Treatment
Active, not recruiting
FDA Office of Orphan Products Development
Published on BioPortfolio: 2014-08-27T03:58:07-0400
OBJECTIVES: I. Determine the efficacy of cysteine hydrochloride in preventing or decreasing photosensitivity in patients with erythropoietic protoporphyria.
The initial objective of this protocol is to assemble a well-documented group of patients with confirmed diagnoses of the erythropoietic protoporphyrias, including autosomal recessive Eryt...
The purpose of the study is to evaluate the effect of exercise and heat on the light sensibility of patients with erythropoietic protoporphyria
Background: Erythropoietic protoporphyria (EPP) is characterized by development of painful skin symptoms upon exposure to visible light dye to accumulation of the photoactive substance pro...
The purpose of this study is to investigate the efficacy and safety of MT-7117 on sunlight exposure duration and tolerance in subjects with EPP.
A 27-year-old man bearing an erythropoietic protoporphyria (EPP)-associated ferrochelatase (FECH) mutation was admitted to our hospital for general malaise and marked elevation of the serum levels of ...
Erythropoietic protoporphyria (EPP) is a genetic disease that results from the defective mutation in the gene encoding ferrochelatase (FECH), the enzyme that converts protoporphyrin IX (PPIX) to heme....
Afamelanotide, an α-melanocyte stimulating hormone analogue, has become an emerging therapeutic option for a variety of skin conditions previously refractory to other treatments. Its efficacy has bee...
An F-FDG PET/CT was performed on a 43-year-old woman with photosensitive skin rash, abnormal liver function, and pancytopenia, which demonstrated prominent hepatomegaly, splenomegaly, and diffuse live...
Hydrogen sulfide and reactive sulfur species are regulators of physiological functions, have antioxidant effects against oxidative stresses, and are endogenously generated from l-cysteine. Recently, a...
A carotenoid that is a precursor of VITAMIN A. It is administered to reduce the severity of photosensitivity reactions in patients with erythropoietic protoporphyria (PORPHYRIA, ERYTHROPOIETIC). (From Reynolds JEF(Ed): Martindale: The Extra Pharmacopoeia (electronic version). Micromedex, Inc, Engewood, CO, 1995.)
An autosomal dominant porphyria that is due to a deficiency of FERROCHELATASE (heme synthetase) in both the LIVER and the BONE MARROW, the last enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include mainly neurological symptoms, rarely cutaneous lesions, and elevated levels of protoporphyrin and COPROPORPHYRINS in the feces.
A mitochondrial enzyme found in a wide variety of cells and tissues. It is the final enzyme in the 8-enzyme biosynthetic pathway of HEME. Ferrochelatase catalyzes ferrous insertion into protoporphyrin IX to form protoheme or heme. Deficiency in this enzyme results in ERYTHROPOIETIC PROTOPORPHYRIA.
A zinc-binding domain defined by the sequence Cysteine-X2-Cysteine-X(9-39)-Cysteine-X(l-3)-His-X(2-3)-Cysteine-X2-Cysteine -X(4-48)-Cysteine-X2-Cysteine, where X is any amino acid. The RING finger motif binds two atoms of zinc, with each zinc atom ligated tetrahedrally by either four cysteines or three cysteines and a histidine. The motif also forms into a unitary structure with a central cross-brace region and is found in many proteins that are involved in protein-protein interactions. The acronym RING stands for Really Interesting New Gene.
An autosomal recessive porphyria that is due to a deficiency of UROPORPHYRINOGEN III SYNTHASE in the BONE MARROW; also known as congenital erythropoietic porphyria. This disease is characterized by SPLENOMEGALY; ANEMIA; photosensitivity; cutaneous lesions; accumulation of hydroxymethylbilane; and increased excretion of UROPORPHYRINS and COPROPORPHYRINS.
In a clinical trial or interventional study, participants receive specific interventions according to the research plan or protocol created by the investigators. These interventions may be medical products, such as drugs or devices; procedures; or change...