Colombia National Porphyria Registry

• Conditions: Rare Diseases; Porphyrias

• Registration Number: NCT05496933
• Lead Sponsor: Fundación Grupo de Investigación en Cuidados Intensivos y Obstetricia

Brief Summary

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

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.

Study Timeline

• Study Start: 2021-04-01
• Study First Submitted: 2021-11-10
• Primary Completion: 2021-12-21
• Status Verified: 2022-08
• Study First Submitted QC: 2022-08-09
• Study First Posted: 2022-08-11
• Last Update Submitted: 2022-08-29
• Last Update Posted: 2022-09-01
• Study Completion: 2022-12-30

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 100

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.

Exclusion Criteria

Not provided

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Life quality	through study completion, an average of 3 year	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.
Prevalence	through study completion, an average of 3 year	Total cases of acute porphyry in Colombia
Incidence	through study completion, an average of 3 year	Total new cases of acute porphyry

Trial Locations

Locations (1)

Gestion Salud; 🇨🇴 Cartagena, Bolivar, Colombia