Colombia National Porphyria Registry

Study Overview
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Brief Summary
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porphyria is classified as a rare disease and is produced by defects in the enzymatic activity in the biosynthesis of the heme group that leads to the over-accumulation and excretion of porphyrin precursors in hepatocytes or erythroid cells, extrahepatic or extramedullary cells, tissue, and end-organ injury. Acute intermittent porphyria is the most common and severe form of hepatic porphyria, with an annual incidence of symptomatic patients of 0.13 per million people. Aim: characterization of cases of acute hepatic porphyria in Colombia. Methods: a descriptive pilot study of patients diagnosed with acute hepatic porphyria's in Colombia. Patients of all age groups with a confirmed diagnosis of acute hepatic porphyria. Patients with concomitant pathologies, as well as pregnant women, will also be included. Patients who refuse to participate in the study will be excluded. Expected results: describe the sociodemographic and clinical characteristics of patients with a diagnosis of acute hepatic porphyria, and encourage patients and/or representatives in the research agenda.

Detailed Description
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A cross-sectional descriptive observational study is carried out in adult patients diagnosed with HAP in Colombia, the incidence and prevalence were estimated, the clinical, socio-demographic and acute attack characteristics are described, and the health-related quality of life was evaluated with the SF-36 questionnaire.

Official Title
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Colombia National Porphyria Registry

Conditions
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Rare Diseases, Porphyrias

Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: - Patients of all age groups with a confirmed diagnosis of acute hepatic porphyria with AT LEAST ONE OF THE FOLLOWING CHARACTERISTICS will be included: Acute symptoms consistent with disease and positive urine qualitative porphobilinogen or substantially elevated quantitative porphobilinogen. Acute symptoms compatible with the disease and decreased HMBS enzyme activity (less than 50%). Mutation in the genetic sequence of the HMBS gene. Confirmatory test that identifies the type of porphyria (analysis of total and fractionated porphyrins in urine, feces and plasma). Patients with concomitant pathologies, as well as pregnant women, will also be included. Exclusion criteria: Patients who refuse to participate in the study will be excluded.
Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Incidence | Total new cases of acute porphyry | through study completion, an average of 3 year | 
| Prevalence | Total cases of acute porphyry in Colombia | through study completion, an average of 3 year | 
| Life quality | Describe the well-being of patients, seeks to measure the impact that medical interventions have on the level of well-being of the patient, limiting itself to the experience that he has of his illness and its impact on it, evaluated with the The Short Form Health Survey 36 (SF-36 questionnaire: there are 36 questions, the possible score is from 0 to 100, with a higher score indicating a better health-related quality of life. | through study completion, an average of 3 year | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Acute Hepatic Porphyria, Porphyrias, Quality of life