Active clinical trials for "Porphyrias"

This is a Phase I trial aimed to determine the safety of the investigational gene therapy product (rAAV2/5-PBGD) for the treatment of Acute Intermittent Porphyria (AIP). Up to eight patients fulfilling the eligibility criteria will participate in this multicentre, open label, single dose, dose-ranging Phase I clinical trial. The enrolled patients will be followed up to assess the safety profile of the investigational gene therapy product and to establish the maximum therapeutic safe dose to be administered in future confirmatory/pivotal clinical trial(s). In addition, the biological and clinical response to the treatment with rAAV2/5-PBGD in AIP patients will be assessed. A complete evaluation of the clinical (symptoms and quality of life assessment) and laboratory (blood and urine) data will be performed.

The investigators demonstrated that cholestyramine is an effective binding agent in vitro for porphyrins. A few isolated case reports of treatment of individuals with a cutaneous porphyria suggest that cholestyramine and colestipol effectively remove porphyrins. Hypothesis: orally administered colestipol will effectively reduce sun sensitivity and lower erythrocyte porphyrin concentrations in subjects with erythropoietic protoporphyria (EPP).

Acute intermittent porphyria (AIP) is an autosomal dominant inherited disease, which is relatively prevalent in northern Norway with a total of around 90 patients. This provides us with a special opportunity to study AIP. AIP is caused by a mutation in the porphobilinogen deaminase, an enzyme in the haem synthesis. AIP presents symptoms, particularly among fertile women and older men. Typical symptoms are abdominal pain and dark red urine, nausea, vomiting, constipation, muscle weakness and nerve damage including paraesthesia and even paresis. This is known as symptomatic or manifest AIP (MAIP). Others do not display symptoms, so-called latent AIP (LAIP). AIP attacks may be triggered by a host of medicaments which affect the haem synthesis, infections, alcohol and stress. Treatments of manifestations include high sugar intake (4 sugar lumps/hour), alternatively administer glucose and Normosang (synthetic haem arginate) by intravenous injection and removing triggering factors. Diet, glucose intake, dental health and inflammatory parameters will be examined. This study can provide new knowledge about why only some people develop symptoms of AIP. Main hypothesis: There are differences in the diet, iron status, inflammation and glucose metabolism of the MAIP group vs. the LAIP group and the control group.

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.

The 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.

OBJECTIVES: Assess whether chronic administration of gonadotropin-releasing hormone analogues is safe and effective for the prevention of cyclic attacks of acute porphyria in women.

Cycle Pharmaceuticals Ltd. (Cycle) is developing an oral tablet formulation of Chlorpromazine Hydrochloride and intends to conduct bioequivalence trials to demonstrate its similarity to the RLD. The aim of this pilot study is to investigate intrasubject variability in the bioavailability of Chlorpromazine Hydrochloride 25 mg sugar coated tablets. Cycle aims to demonstrate that Chlorpromazine Hydrochloride has a shallow dose response curve and a wide safety margin. This will then allow for the modification of bioequivalence acceptance criteria in future pivotal studies which will reduce the number of participants required whilst still maintaining assurance of safety and efficacy. Pilot Subjects (n): 20 Periods: 2 (2xR) Dosing: Single-dose Strength: 25 mg Test Product: N/A Reference: USL PHARMA Chlorpromazine Hydrochloride Analytes (in plasma): Chlorpromazine; 7-Hydroxychlorpromazine Bioequivalence based on 90% CI (Cmax, AUC): Standard; 80.00 - 125.00%

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.

OBJECTIVES: I. Determine whether differences in dietary habits are associated with disease activity in patients with acute intermittent porphyria. II. Determine whether premenstrual porphyria attacks are associated with increased luteal phase energy requirements. III. Determine whether energy requirements are higher than intakes in men with unexplained frequent porphyria attacks. IV. Assess the nutritional status of women with acute intermittent porphyria using a comprehensive series of laboratory methods, including zinc and pyridoxine status. V. Determine whether the frequency of disease exacerbations decreases when dietary and nutritional abnormalities are corrected in these patients. VI. Evaluate the safety and efficacy of a parenteral nutrition regimen for patients with acute porphyria attacks.

The 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.