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All Diseases > Congenital Erythropoietic Porphyria
Congenital Erythropoietic Porphyria (CEP)
Disease Category: Porphyrias
A rare, inherited, metabolic disorder characterized by deficiency of the enzyme uroporphyrinogen III synthase (UROS), which allows for build-up of porphyrins in bones, bone marrow, plasma, red blood cells, urine, and teeth. Porphyrins are substances that bind metals to form complexes, such as the iron found in red blood cells. The hallmark symptom is photosensitivity (hyperreactivity to light) of the skin, resulting in bullae (sac-like skin lesions) which may become infected, scar, and/or develop discoloration. Other symptoms include bone loss due to infection, brownish-colored teeth, increased hair growth, anemia (low red blood cells), splenomegaly (enlarged spleen), eye problems, and deformities.
Research groups studying this disease
Porphyrias Consortium (PC)View Disease Definition
7201: Longitudinal Study of the Porphyrias
The porphyrias are a group of rare metabolic diseases that may present in childhood or adult life and are due to deficiencies of enzymes in the heme biosynthetic pathway. Porphyrias have various symptoms depending on the type, but these can range from neurological symptoms to sun sensitivity. See the descriptions of each type to get more information. The natural history of these disorders is not well described and it is not known why some patients are more severe than others. Therefore, the purpose of this long-term follow-up study is to collect a large group of patients with the different types of porphyria and to provide a better understanding of the natural history of these disorders. The hope is that this information will help in developing new forms of treatment. The research aims are: 1. To study the prevalence of specific indicators of disease severity. To study the effects on quality of life and health of various porphyrias. 2. To determine the relationships between disease severity and various biological characteristics, genetic information, and environmental factors.
7212: International Porphyria Molecular Diagnostic Collaborative
The purpose of this study is to establish an independent, public, online database, called the International Porphyria Molecular Diagnostic Database. This Database will have all published, newly identified, and biochemically/clinically verified pathogenic mutations for the eight major porphyrias, as well as a list of genomic variants for each gene from the latest genomic/exonic databases (e.g., GnomAD) that are benign, likely-benign, or unknown. The eight major porphyrias include: Acute Intermittent Porphyria (AIP), due to pathogenic mutations in the Hydroxymethylbilane Synthase (HMBS) gene, Hereditary Coproporphyria (HCP), due to pathogenic mutations in the Coproporphyrinogen Oxidase (CPOX) gene, Variegate Porphyria (VP), due to pathogenic mutations in the Protoporphyrinogen Oxidase (PPOX) gene, Porphyria Cutanea Tarda (PCT) due to pathogenic mutations in the Uroporphyrinogen Decarboxylase (UROD) gene, Erythropoietic Protoporphyria (EPP) due to pathogenic mutations in the Ferrochelatase (FECH) gene, Congenital Erythropoietic Porphyria (CEP) due to pathogenic mutations in the Uroporphyrinogen III Synthase (UROS) gene, X-Linked Protoporphyria (XLP) due to pathogenic mutations in the Aminolevulinic Acid Synthase 2 (ALAS2) gene, and ALA-Dehydrogenase Deficient Porphyria (ADP), due to pathogenic mutations in the ALADehydrogenase (ALAD) gene. Efforts will be directed to verify each published or new mutation in conjunction with the European Porphyria Network (EPNET) by elevated urinary, stool, erythrocyte, or plasma porphyrin precursor levels as well as by specific enzymatic activity, when available, from de-identified patients with the respective clinical manifestations for each porphyria.
United Porphyrias Association
Committed to improving the quality of life of the porphyria patient community, relentlessly focused on advancing disease awareness, research, and therapies in all the porphyrias.