Clinical Trials Logo

Porphyrias clinical trials

View clinical trials related to Porphyrias.

Filter by:
  • Recruiting  
  • Page 1

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: 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: 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: 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: NCT01561157 Recruiting - Acute Porphyrias Clinical Trials

Longitudinal Study of the Porphyrias

Start date: November 1, 2010
Phase:
Study type: Observational

The objective of this protocol is to conduct a longitudinal multidisciplinary investigation of the human porphyrias including the natural history, morbidity, pregnancy outcomes, and mortality in people with these disorders.

NCT ID: NCT01284946 Recruiting - Clinical trials for Porphyria Cutanea Tarda

Safety and Efficacy of Oral Deferasirox in Patients With Porphyria Cutanea Tarda

Start date: January 2011
Phase: Phase 2
Study type: Interventional

While clinical phlebotomy is current standard practice for alleviating non-transfusion iron overload in patients with PCT, it may not be suitable for all patients. For example, some patients are unwilling to be adequately phlebotomized because of inconvenience, as phlebotomy can be cumbersome, especially during the induction treatment phase requiring frequent clinic visits (twice a month, for at least 6 months) or because of venous access difficulties. Other patients are unable to undergo phlebotomy due to medical reasons such as anemia or cardiopulmonary disorders. It is postulated such patients with PCT who have non-transfusion iron overload could benefit from treatment with deferasirox (Exjade®), a once daily oral iron chelator licensed in several countries, including the EU, for treating transfusion iron overload in adult and pediatric patients. Although there is some data on the efficacy and safety of deferasirox in patients with HH, who, like those with PCT, have non-transfusional iron overload, there is a need to evaluate the safety and efficacy of deferasirox treatment of non-transfusion iron overload in patients with PCT.

NCT ID: NCT00004331 Recruiting - Porphyria Clinical Trials

Studies in Porphyria I: Characterization of Enzyme Defects

Start date: November 1992
Phase: N/A
Study type: Observational

OBJECTIVES: I. Characterize enzyme defects in patients with known or suspected porphyria and their family members. II. Determine whether selected patients are eligible for other porphyria research protocols. III. Provide blood, urine, and fecal samples from well characterized patients and their family members to investigators studying the nature of specific mutations in genes for heme biosynthetic pathway enzymes.