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NCT06953505
The goal of this observational study is to learn if people with certain ammonia metabolism disorders will measure their ammonia levels at home. The main question it aims to answer is: • Will participants measure their ammonia every day? Participants will be asked to: * Attend three in-person study visits at the clinic. * Measure temperature, heart rate, and blood oxygen every day. * Complete a short survey every day. * Measure ammonia every day.
NCT06805695
This LTFU is being conducted to assess long-term safety and durability of response in participants dosed with IP in a parent protocol, and to collect longitudinal natural history in enrolled but not dosed participants who also participated in a parent protocol.
NCT06664840
The investigators propose to develop and validate MyRareDiet® (MRD) to address an unmet need in the inborn errors of metabolism (IEM) population to assist with dietary management designed to increase adherence and compliance to treatment guidelines, while facilitating the collection of dietary data from individuals with IEM for research purposes.
NCT00947544
Protocol HPN-100-005 was the first study of HPN-100 in pediatric subjects with urea cycle disorders (UCDs) and was a fixed-sequence, open-label, switch over study of HPN-100 with a long-term (12 month) safety extension designed to assess the safety of HPN-100 and to prospectively assess its ability to control blood ammonia as compared with Sodium Phenylbutyrate (NaPBA). Upon DSMB review of the first ten subjects who completed the switch over part of the study, and with DSMB approval, up to an additional 20 subjects were enrolled into the safety extension part of the study. HPN-100 is a triglyceride that has a similar mechanism of action as NaPBA. It is a liquid with minimal taste and odor. Three teaspoons of HPN-100 (\~17.4mL) delivers an equivalent amount of PBA to 40 tablets of NaPBA.
NCT00992459
This was a randomized, active-controlled, double-blind, cross-over study designed to enroll subjects with UCDs who are being treated with NaPBA.
NCT05330039
Study around children with inborn errors of metabolism (IEM) and their healthy siblings. Collection of stool and urine to assess contribution of microbiota to disease severity.
NCT03064048
This is a study involving a dietary supplement. Patients with argininosuccinate lyase deficiency (ASLD) will be randomly assigned to receive either a nitric oxide dietary supplement or placebo for 24 weeks, and then crossed-over to receive the other treatment for 24 weeks. The investigators will assess the effects of the supplement in domains of general cognition, memory, executive functioning, and fine motor functioning in individuals with ASLD.
NCT05076318
This project will examine the dysregulation of the urea cycle in patients with terminal uremia using a validated method named "Functional Hepatic Nitrogen Clearance"
NCT03884959
This is a phase2, prospective, open label study designed to investigate the safety and efficacy of several infusions of HepaStem. This study will include 5 pediatric Urea Cycle Disorder (UCD) patients under 12 years old. Its assessment includes all safety parameters and an efficacy assessment based on 13C tracer tests, ammonia, medication and diet changes. HepaStem will be administered in addition to the conventional UCD treatments.
NCT00472732
Urea cycle disorders (UCDs) are a group of rare inherited metabolism disorders. The purpose of this study is to evaluate how UCD-related neurologic injuries affect adults with one of the most common types of UCD.