Panhematin for Prevention of Acute Attacks of Porphyria
Acute Intermittent PorphyriaHereditary Coproporphyria1 moreThe purpose of this study is to determine if Panhematin is safe and effective for prevention of acute attacks of porphyria. The study aims to provide high quality evidence for the use on hemin for prevention of acute attacks of porphyria. High quality studies have not been done previously for treating or preventing acute attacks with hemin. The lack of strong evidence for efficacy of hemin for treatment and prevention of attacks limits its availability for patients with acute porphyrias. Funding source: FDA Office of Orphan Product Development (FDA OOPD) FD-R-03720
Study to Evaluate the Safety and Efficacy of Afamelanotide in Patients With Variegate Porphyria...
Variegate PorphyriaThe 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.
ELEVATE, a Registry of Patients With Acute Hepatic Porphyria (AHP)
Acute Hepatic PorphyriaThis 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.
Identification of Acute Intermittent Porphyria Modifying Genes
Acute Intermittent Porphyria (AIP)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.
Longitudinal Study of the Porphyrias
Acute PorphyriasCutaneous PorphyriasThe 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.
Acute Intermittent Porphyria Related Abnormalities in Cardiovascular System
PorphyriasHepaticThis study aims to assess the changes in the cardiovascular system in patients with acute intermittent porphyria (AIP).
Evaluating the Prevalence of Acute Hepatic Porphyria in Postural Tachycardia Syndrome
Postural Orthostatic Tachycardia SyndromeAcute Hepatic PorphyriaPostural 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.
ENVISION: A Study to Evaluate the Efficacy and Safety of Givosiran (ALN-AS1) in Patients With Acute...
Acute Hepatic PorphyriaAcute Intermittent Porphyria6 moreThe purpose of this study is to evaluate the effect of subcutaneous givosiran (ALN-AS1), compared to placebo, on the rate of porphyria attacks in patients with Acute Hepatic Porphyrias (AHP).
Hydroxychloroquine and Phlebotomy for Treating Porphyria Cutanea Tarda
Porphyria Cutanea TardaPorphyria cutanea tarda (PCT) is an iron-related disorder that responds to treatment by phlebotomy or low-dose hydroxychloroquine, but comparative data on these treatments are limited. The hypothesis is that hydroxychloroquine is noninferior to phlebotomy in terms of time to remission. Patients with well documented PCT are assigned to treatment by randomization if specific criteria are met. All patients are followed until remission - defined as achieving a normal plasma porphyrin concentration.
Pilot Trial of Deferasirox in the Treatment of Porphyria Cutanea Tarda
Porphyria Cutanea TardaTo determine the efficacy and tolerability of deferasirox in the treatment of Porphyria Cutanea Tarda. Primary objective - the elimination of all blistering within 6 months of treatment. Secondary objective - decrease in total body iron levels.