Evaluation of Porphyria Types and Contributing Factors through Enzyme Defects Characterization
Data Collection
Metabolic Diseases+7
+ Congenital, Hereditary, and Neonatal Diseases and Abnormalities
+ Nutritional and Metabolic Diseases
Summary
Study start date: November 1, 1992
Actual date on which the first participant was enrolled.PROTOCOL OUTLINE: All patients are evaluated for porphyria type and factors contributing to the clinical expression of their particular form of the disease. Testing includes erythrocyte porphobilinogen deaminase, erythrocyte protoporphyrin, plasma porphyrins, and urinary and fecal porphyrins and precursors. Selected patients are entered into other porphyrin research protocols in this and other institutions, including analysis of DNA to identify specific mutations in genes for heme biosynthetic pathway enzymes.
Protocol
This section provides details of the study plan, including how the study is designed and what the study is measuring.25 patients to be enrolled
Total number of participants that the clinical trial aims to recruit.Eligibility
Researchers look for people who fit a certain description, called eligibility criteria: person's general health condition or prior treatments.Any sex
Biological sex of participants that are eligible to enroll.Healthy volunteers not allowed
If individuals who are healthy and do not have the condition being studied can participate.Conditions
Pathology
Criteria
Suspected or confirmed porphyria Adults, children, and family members eligible
Study Centers
These are the hospitals, clinics, or research facilities where the trial is being conducted. You can find the location closest to you and its status.This study has 1 location
University of Texas Medical Branch
Galveston, United StatesOpen University of Texas Medical Branch in Google Maps