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UNKNOWNNCT05496933

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 prec...

Lead sponsor: Fundación Grupo de Investigación en Cuidados Intensivos y Obstetricia•1 locations•View source on ClinicalTrials.gov

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Sponsors

Lead Sponsor

Fundación Grupo de Investigación en Cuidados Intensivos y Obstetricia

Collaborators

RECORDATI GROUP

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.

Age

All ages

Sex

ALL

Healthy Volunteers

No

Inclusion Criteria

•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.

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Data from ClinicalTrials.govLast updated on ClinicalTrials.gov: September 1, 2022Terms

Trial snapshot

StatusUNKNOWN

Phase—

Enrollment100

Start dateApr 2021

Last updatedSep 1, 2022

Condition

Rare Diseases Porphyrias

Locations shown

Gestion Salud

Cartagena, Departamento de Bolívar

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Data Source & Attribution

This clinical trial information is sourced from ClinicalTrials.gov, a service of the U.S. National Institutes of Health.

ClinicalTrials.gov last update: September 1, 2022Data synced to Clareo: May 3, 2026

Modifications: This data has been reformatted for display purposes. Eligibility criteria have been parsed into inclusion/exclusion sections. Location data has been geocoded to enable distance-based search. For the authoritative and most current information, please visit ClinicalTrials.gov.

Neither the United States Government nor Clareo Health make any warranties regarding the data. Check ClinicalTrials.gov frequently for updates.

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