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
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.
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).
A Study to Investigate the Interaction Between Givosiran and a 5-probe Drug Cocktail in Patients...
Acute Intermittent Porphyria (AIP)Acute Hepatic Porphyria (AHP)3 moreThe purpose of this study is to evaluate the effect of givosiran on the pharmacokinetics of the 5-probe cocktail of midazolam, caffeine, losartan, omeprazole, and dextromethorphan, and their metabolites, in asymptomatic patients with Acute Intermittent Porphyria.
Acute Porphyria Biomarkers for Disease Activity
Acute Intermittent PorphyriaHereditary Coproporphyria1 moreThe long term objective of the research is to identify new biomarkers of disease activity in the human acute porphyrias. This pilot study is intended to provide pilot and feasibility data needed to plan larger and more definitive future studies.
Clinical Diagnosis of Acute Porphyria
Hereditary Coproporphyria (HCP)Acute Intermittent Porphyria (AIP)1 moreThe purpose of this study is to test whether a focused questionnaire and laboratory tests can better define risk factors associated with possible genetic porphyria. The investigators hypothesize that the genetic carrier state of acute porphyria is distinctive enough that the Genetic Carrier Profile the investigators devise through this study will be useful in identifying carriers of genetic porphyria among the large population with undiagnosed abdominal pain.
INSIGHT-AHP: A Study to Characterize the Prevalence of Acute Hepatic Porphyria (AHP) in Patients...
Acute Hepatic PorphyriaHepatic Porphyrias5 moreThis study will use specific diagnostic tests on a group of patients who are experiencing symptoms typical of acute hepatic porphyria (AHP) to determine how many have the condition, and to potentially help improve the diagnostic process for patients in the future.
EXPLORE: A Natural History Study of Acute Hepatic Porphyria (AHP)
Acute Hepatic PorphyriaThe purpose of this study is to characterize the natural history and clinical management of Acute Hepatic Porphyria (AHP) patients with recurring attacks.
Evidence-based Assessment of Medication Sensitivity in Acute Hepatic Porphyria
PorphyriasThis 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.