Colombia National Porphyria Registry

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.

Study Overview

• Status: Active, not recruiting
• Conditions: Rare Diseases; Porphyrias

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 Type: Observational
• Enrollment (Anticipated): 100

Contacts and Locations

Study Locations

• Colombia
  • Bolivar
    • Cartagena, Bolivar, Colombia, 130015
      • Gestion Salud

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Probability Sample

Study Population

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.

Description

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.

Study Plan

How is the study designed?

What is the study measuring?

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

Collaborators and Investigators

• Sponsor: Fundación Grupo de Investigación en Cuidados Intensivos y Obstetricia
• Collaborators: Recordati Rare Diseases

Study record dates

Study Major Dates

• Study Start (Actual): April 1, 2021
• Primary Completion (Actual): December 21, 2021
• Study Completion (Anticipated): December 30, 2022

Study Registration Dates

• First Submitted: November 10, 2021
• First Submitted That Met QC Criteria: August 9, 2022
• First Posted (Actual): August 11, 2022

Study Record Updates

• Last Update Posted (Actual): September 1, 2022
• Last Update Submitted That Met QC Criteria: August 29, 2022
• Last Verified: August 1, 2022

More Information

Terms related to this study

• Keywords: Quality of life; Acute Hepatic Porphyria; Porphyrias
• Additional Relevant MeSH Terms: Pathologic Processes; Metabolic Diseases; Skin Diseases; Disease Attributes; Genetic Diseases, Inborn; Skin Diseases, Genetic; Rare Diseases; Porphyria, Erythropoietic; Porphyrias
• Other Study ID Numbers: 0112-2020

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No