Colombia National Porphyria Registry

NCT05496933 | Unknown DMC

• 1 other identifier: 0112-2020
• Study Type: observational
• Target: 100
• Locations: 1 country
• Sites: 1

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.

Conditions

Rare Diseases; Porphyrias

Keywords

Acute Hepatic Porphyria; Porphyrias; Quality of life

Outcome Measures

Primary Outcomes (3)

• 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

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• 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.

You may not qualify if:

• Patients who refuse to participate in the study will be excluded.

Sponsors & Collaborators

• Fundación Grupo de Investigación en Cuidados Intensivos y Obstetricia: lead
• RECORDATI GROUP: collaborator

Study Sites (1)

Gestion Salud

Cartagena, Departamento de Bolívar, 130015, Colombia

Location

MeSH Terms

Conditions

Rare Diseases; Porphyrias; Coproporphyria, Hereditary

Condition Hierarchy (Ancestors)

Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Metabolic Diseases; Nutritional and Metabolic Diseases; Porphyrias, Hepatic; Liver Diseases; Digestive System Diseases; Skin Diseases, Genetic; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin Diseases; Skin and Connective Tissue Diseases

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: CROSS SECTIONAL
• Target Duration: 2 Months
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: November 10, 2021
• First Posted: August 11, 2022
• Study Start: April 1, 2021
• Primary Completion: December 21, 2021
• Study Completion: December 30, 2022
• Last Updated: September 1, 2022

Record last verified: 2022-08

Locations

CO (1)