Clinical trial NCT05496933: Colombia National Porphyria Registry
Official title: Colombia National Porphyria Registry
Study type: OBSERVATIONAL
Overall status: UNKNOWN
Conditions: Rare Diseases
Porphyrias
Keywords: Acute Hepatic Porphyria
Porphyrias
Quality of life
Lead sponsor: Fundación Grupo de Investigación en Cuidados Intensivos y Obstetricia
Sponsor class: OTHER
Collaborators: name: Recordati Rare Diseases
First posted: 2022-08-11
Enrollment: 100
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: CROSS_SECTIONAL
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.

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.

Eligibility criteria: 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.

Primary outcomes:
measure: Incidence
timeFrame: through study completion, an average of 3 year
measure: Prevalence
timeFrame: through study completion, an average of 3 year
measure: Life quality
timeFrame: through study completion, an average of 3 year
Secondary outcomes:
Other outcomes:
Locations:
city: Cartagena
country: Colombia
facility: Gestion Salud
state: Bolivar
Study officials:
References: