Rare DiseasesNCT05496933
Colombia National Porphyria Registry
An observational study of Rare Diseases and Porphyrias, run by Fundación Grupo de Investigación en Cuidados Intensivos y Obstetricia at 1 site in Colombia.
Trial 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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Rare Diseases, Porphyrias
- How many people
- 100 participants
- Where
- 1 siteColombia
- Study dates
- 1 Apr 2021to 30 Dec 2022
- How long will I take part?
- 2 Months
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
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.
Who may be able to join
None listed.
Who cannot join
- Patients who refuse to participate in the study will be excluded.
Trial locations and contacts
1 site in 1 country.
About this study
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.
Read the 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.
- Conditions
- Rare Diseases, Porphyrias
- Keywords
- Acute Hepatic Porphyria, Porphyrias, Quality of life
- Medical subject headings
- Rare Diseases, Porphyrias, Coproporphyria, Hereditary
What is being measured
The primary outcome is the main question the study is designed to answer.
Incidence
Total new cases of acute porphyry
Measured: through study completion, an average of 3 year
Prevalence
Total cases of acute porphyry in Colombia
Measured: 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.
Measured: through study completion, an average of 3 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted11 Aug 2022
- Study start1 Apr 2021
- Primary completion21 Dec 2021
- Study completion30 Dec 2022 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Rare DiseasesStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Cross-sectional
- Enrolment
- 100 participants (estimated)
- Target duration
- 2 Months
Sponsor and investigators
- Lead sponsor
- Fundación Grupo de Investigación en Cuidados Intensivos y Obstetricia
- Sponsor type
- University, hospital or other
- Collaborators
- RECORDATI GROUP
- Responsible party
- Principal investigator, José Antonio Rojas Suarez, Fundación Grupo de Investigación en Cuidados Intensivos y Obstetricia
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05496933
- Sponsor's protocol ID
- 0112-2020
- Status last verified
- Aug 2022
- First submitted
- 10 Nov 2021
- Last updated
- 1 Sep 2022
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 1 Sep 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Colombia National Porphyria Registry
- ClinicalTrials.gov ID
- NCT05496933
- Acronym / sponsor ID
- 0112-2020
- Conditions
- Rare Diseases, Porphyrias
- Keywords
- Acute Hepatic Porphyria, Porphyrias, Quality of life
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 100 participants (estimated)
- Lead sponsor
- Fundación Grupo de Investigación en Cuidados Intensivos y ObstetriciaUniversity, hospital or other
- Collaborators
- RECORDATI GROUP
- Study start
- 1 Apr 2021 (actual)
- Primary completion
- 21 Dec 2021 (actual)
- Study completion
- 30 Dec 2022 (estimated)
- First posted
- 11 Aug 2022 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Case only
- Time perspective
- Cross-sectional
- Target follow-up
- 2 Months
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- 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.
Key inclusion criteria (0 listed)
Key exclusion criteria (1 listed)
- Patients who refuse to participate in the study will be excluded.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Incidence
Time frame: through study completion, an average of 3 year
Total new cases of acute porphyry
Prevalence
Time frame: through study completion, an average of 3 year
Total cases of acute porphyry in Colombia
Life quality
Time frame: 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.
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 1 Sep 2022.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Rare Diseases and Porphyrias, run by Fundación Grupo de Investigación en Cuidados Intensivos y Obstetricia at 1 site in Colombia.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 0 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 1 Sep 2022. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Colombia. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Incidence (time frame: through study completion, an average of 3 year). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 1 Sep 2022.