Colombia National Porphyria Registry
试验速览
- 阶段
- 不适用
- 发起方
- 入组人数
- 100
- 试验地点
- 1
- 主要终点
- Life quality
研究概览
简要总结
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.
详细描述
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Cross Sectional
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •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.
排除标准
- 未提供
结局指标
主要结局
Life quality
时间窗: 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
时间窗: through study completion, an average of 3 year
Total cases of acute porphyry in Colombia
Incidence
时间窗: through study completion, an average of 3 year
Total new cases of acute porphyry
次要结局
未报告次要终点
研究者
José Antonio Rojas Suarez
Principal Investigator
Fundación Grupo de Investigación en Cuidados Intensivos y Obstetricia