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Porphyrias clinical trials

View clinical trials related to Porphyrias.

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NCT ID: NCT06273644 Recruiting - Clinical trials for Porphyria, Acute Intermittent

Clinical Research on Acute Intermittent Porphyria and the Use of Carbohydrate-Rich Diet as a Treatment

Start date: January 27, 2024
Phase: N/A
Study type: Interventional

The main aim of this clinical trial is to learn about the effect of carbohydrate-rich diet as a treatment for AIP (acute intermittent porphyria). Aim: Investigate the diet's impact on tissue and serum glucose, plasma insulin, cytokine levels, amino acids, and gut microbiota in AIP, and their correlation with PBG (Porphobilinogen). Aim: Assess the diet's effect on AIP symptoms and health status in AIP. Aim: Measure the effect of a high-carbohydrate diet on mitochondrial activity in AIP Aim: Map and detect potential mutations in mitochondrial genomic DNA in AIP Aim: Discover new markers in AIP through RNA sequencing and machine learning. Participants will follow two diet plans, a 4-week intervention with 60-65 E% carbohydrates and a 4 week intervention with 40-45 E% carbohydrates.

NCT ID: NCT05882136 Completed - Porphyrias, Hepatic Clinical Trials

Acute Intermittent Porphyria Related Abnormalities in Cardiovascular System

AIPRACUS
Start date: April 5, 2019
Phase:
Study type: Observational

This study aims to assess the changes in the cardiovascular system in patients with acute intermittent porphyria (AIP).

NCT ID: NCT05854784 Completed - Variegate Porphyria Clinical Trials

Study to Evaluate the Safety and Efficacy of Afamelanotide in Patients With Variegate Porphyria (VP)

Start date: March 28, 2023
Phase: Phase 2
Study type: Interventional

The primary objective is to evaluate the impact of afamelanotide on the severity of skin disease in patients with Variegate Porphyria (VP). The secondary objectives are to evaluate the safety and tolerability of afamelanotide in patients with VP and evaluate the impact of afamelanotide on the quality of life of patients with VP.

NCT ID: NCT05502133 Recruiting - Clinical trials for Acute Intermittent Porphyria (AIP)

Identification of Acute Intermittent Porphyria Modifying Genes

Start date: September 23, 2022
Phase:
Study type: Observational

This study proposes to identify the predisposing/protective modifying genes that underlie the acute attacks in symptomatic patients with Acute Intermittent Porphyria (AIP), an autosomal dominant inborn error of heme biosynthesis.

NCT ID: NCT05496933 Active, not recruiting - Rare Diseases Clinical Trials

Colombia National Porphyria Registry

Start date: April 1, 2021
Phase:
Study type: Observational [Patient 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 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.

NCT ID: NCT05344599 Recruiting - Clinical trials for Postural Orthostatic Tachycardia Syndrome

Evaluating the Prevalence of Acute Hepatic Porphyria in Postural Tachycardia Syndrome

Start date: January 19, 2022
Phase:
Study type: Observational

Postural Tachycardia Syndrome (POTS) is the most common autonomic disorder and is estimated to affect 3,000,000 individuals in the United States, with 80-85% of patients being women. The condition is characterized by a rapid increase in heart rate (HR) that occurs on standing, and chronic symptoms of cerebral hypoperfusion leading to lightheadedness, dizziness, and blurred vision. The acute hepatic porphyrias(AHP)are among the diseases that present with autonomic cardiovascular(tachycardia)and neurovisceral symptoms (abdominal pain) among others; they present with acute exacerbations Given that there is available treatment for AHP that change the natural progression of the disease, study focuses to investigate the occurrence of AHP in POTS and determine the clinical and neuro-hormonal characteristic of the POTS subgroup that will likely benefit from AHP screening. This study has one visit that involves, answering some questionnaires, coming to the lab for blood work, genetic testing, and some autonomic function tests. About 50 people will take part in this study.

NCT ID: NCT04923516 Not yet recruiting - Clinical trials for Acute Hepatic Porphyria

Prevalence of Acute Hepatic Porphyria

PHA
Start date: June 2021
Phase:
Study type: Observational

To determine the proportion of patients suffering from acute hepatic porphyria (AHP) from different hospital departments and referred to an internist referent for a suggestive clinical picture with a first negative etiological assessment.

NCT ID: NCT04883905 Recruiting - Clinical trials for Acute Hepatic Porphyria

ELEVATE, a Registry of Patients With Acute Hepatic Porphyria (AHP)

ELEVATE
Start date: April 26, 2021
Phase:
Study type: Observational

This global patient registry is being conducted to characterize the natural history and real-world clinical management of patients with AHP, and to further characterize the real-world safety and effectiveness of givosiran and other approved AHP therapies.

NCT ID: NCT04056481 Approved for marketing - Clinical trials for Acute Hepatic Porphyria

Expanded Access Protocol of Givosiran for Patients With Acute Hepatic Porphyria

Start date: n/a
Phase:
Study type: Expanded Access

The purpose of this study is to provide expanded access of givosiran to patients with Acute Hepatic Porphyria (AHP).

NCT ID: NCT03906214 Completed - Porphyrias Clinical Trials

Evidence-based Assessment of Medication Sensitivity in Acute Hepatic Porphyria

Start date: April 3, 2019
Phase:
Study type: Observational

This is an observational study collecting patient/caregiver reports on suspected medication/drug-induced acute porphyria attacks, as well as safe use of drugs previously labeled "unsafe" or with unknown risk. Participants will be recruited through the RDCRN Contact Registry for the Porphyrias Consortium. The study will be advertised on the Consortium website and through the American Porphyria Foundation's social media network.