6 Clinical Trials for Various Conditions
The purpose of this study is to assess the safety, tolerability, pharmacokinetics (PK), and pharmacodynamics PD) of multiple ascending doses of INZ-701, an ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) recombinant fusion protein, for the treatment of ABCC6 Deficiency. The goal of the study is to identify a dose regimen for further clinical development in the treatment of ABCC6 Deficiency.
This PXE biomarker study aims to characterize the levels of inorganic pyrophosphate (PPi), pyridoxal 5´-phosphate (PLP), and other biomarkers relevant to PXE and ectopic calcification in both PXE patients and their biological siblings who are PXE carriers or normal non-PXE individuals.
The purpose of this study is to evaluate the effectiveness of magnesium oxide supplements on the reversal of calcium deposits in the skin, and the yellow bumps and folds of skin in subjects with pseudoxanthoma elasticum (PXE). Magnesium oxide is a dietary supplement that has been shown in some research to reduce these calcium deposits. This study consists of two parts. The first part is a year-long, double-blind, placebo-controlled study. Part two is an open-label, year-long study. In Part 1, qualified subjects will be randomized to receive either magnesium oxide supplements or placebo, in a 1:1 ratio for the first 12 months. The starting dose will be 1000 mg daily, and depending on tolerability, doses may be decreased. Baseline evaluations will be comprised of: blood tests; clinical evaluations; skin biopsy; eye examination; bone density test; and photography of skin lesions. Subjects will be evaluated at week 2, week 6, month 3, and then every 3 months during the first year. Upon completion of the first year, barring any safety concerns, all subjects will be administered magnesium oxide supplements for up to one additional year. Subjects will undergo the same evaluations/ procedures every 3 months. We hypothesize that the magnesium oxide will cause a reduction in calcifications in the subject's soft tissue/skin. Funding Source - FDA OOPD.
This study will characterize the gene mutations responsible for pseudoxanthoma elasticum (PXE) and correlate them with disease manifestations in males and females. PXE is an inherited disorder that affects the connective tissue in some parts of the body. Calcium and other minerals are deposited in the connective tissue, causing changes in the skin, eyes, cardiovascular system and gastrointestinal system. Some effects of PXE can cause serious medical problems, while others have less impact. Symptoms often appear earlier and are more severe in females than in males, but there is no way to predict how the disorder will progress in any given individual. Candidates for this study are recruited through PXE International, an organization that provides patient support and supports research on the disease. The organization collects biological samples and medical information on patients and family members to help further research on the disease. Families that have samples from the patient, both parents, and at least one sibling may be eligible for this study. Grandparents and extended family members may be included in certain instances. Participants provide a blood sample, a sample of cells scraped from the inside of the cheek (buccal cells) and a medical history. The samples are analyzed for gene variants and the findings are correlated with disease signs and symptoms. ...
The purpose of this study (Study INZ701-304 \[ADAPT\]) is to assess the long-term safety of INZ-701 in patients with ENPP1 Deficiency or ABCC6 Deficiency who have received INZ-701 in an existing clinical study and choose to continue dosing for the potential treatment of their condition.
The primary purpose of Study INZ701-104 (the ENERGY study) is to assess the safety and tolerability of INZ-701 in infants with ENPP1 Deficiency or with ABCC6 Deficiency.