Active clinical trials for "Urea Cycle Disorders, Inborn"

In this short-term study a method for the evaluation of the metabolic competency of the urea cycle in vivo will be assessed. In order to monitor the efficacy of new treatment options for patients with urea cycle disorders and to monitor the severity of the disease, a reliable and safe quantitative method for the measurement of the urea cycle flux is required. Urea synthesis will be evaluated by administering sodium [1-13C]-acetate and measuring subsequent incorporation of [13C] label from Na-acetate into urea in healthy volunteers and asymptomatic subjects genetically disposed to urea cycle disorders.

This diagnostic study will be performed to investigate the performance of the urea cycle in healthy subjects, asymptomatic carriers of Urea Cycle Disorders (UCD) mutations and subjects with genetically proven urea cycle disorders. The ureagenesis rate will be measured by 13C incorporation assay, a method for in vivo measurement of urea cycle performance with stable isotopes.

Hyperammonemia, which can cause brain damage, occurs in many different kinds of inborn errors of metabolism. The investigators propose to determine if short-term (3 day) treatment with N-carbamylglutamate can diminish hyperammonemia by enhancing ureagenesis in these patients. The investigators propose here a short-term (3 day) trial. If it succeeds, the investigators would consider more extensive long-term studies of the drug.

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.

The investigators will study and compare how effectively sodium phenylbutyrate, sodium benzoate, and a combination of the two, help excrete nitrogen in healthy volunteers. Subject participation will require three, separate, four-day study periods at least one week apart. During one study period (also called a treatment arm), subjects will take sodium phenylbutyrate; during another they will take sodium benzoate; during another they will take a combination of the two medications. We expect to find that phenylbutyrate is more effective at removing nitrogen than benzoate or a combination of the two.

This clinical food study aims to explore the effect of KB195, a novel mixture of oligosaccharides, on the metabolism of nitrogen by the microbiome in patients with urea cycle disorders (UCDs). This will be done using a stable isotope to assess nitrogen metabolism in the blood, urine, and stool. The study will also assess the safety and tolerability of KB195 in patients with UCDs.

The primary purpose of the proposed study is to characterize the oxidative stress and inflammatory cytokine status in UCD during baseline and decompensated states.

THRIVE is an observational study that will collect information on patients with UCDs. THRIVE will follow enrolled participants for up to 10 years. As an observational study, enrolled patients will not be required to make any additional office visits or take any medicine outside of normal care.

RATIONALE: The urea cycle is the process in which nitrogen is removed from the blood and converted into urea, a waste product found in urine . Urea cycle disorders are inherited disorders caused by the lack of an enzyme that removes ammonia from the bloodstream. Gene therapy is treatment given to change a gene so that it functions normally. Studying the treatment and metabolism of patients with urea cycle disorders may be helpful in developing new treatments for these disorders. PURPOSE: Two-part clinical trial to study the treatment and metabolism of patients who have urea cycle disorders.

Objectives: To study nutrition and immune system problems in people with urea cycle disorders. To study how people with urea cycle disorders and healthy volunteers respond to standard flu and/or hepatitis A vaccines. To compare differences in nutrition and immune systems of people with urea cycle disorders with that of healthy volunteers. Eligibility: Healthy males and females at least 2 years of age who are able to travel to the National Institutes of Health hospital in Bethesda, MD Males and females at least 2 years of age who have a urea cycle disorder and are able to travel to the National Institutes of Health hospital in Bethesda, MD. Design: For Patients with urea cycle disorder: Participants will spend 2 to 3 days in the National Institutes of Health hospital for the following tests: A physical exam and review of medical history Food log for 3 days before the start of the study Blood tests 24-hour urine collection Resting metabolism test DEXA scan imaging study of bones and body fat Participants who are old enough to do certain tasks by themselves (like dressing and eating) can choose to have the following extra tests: 24-hour metabolic room measurements BodPod(Registered Trademark) study to measure bones and body fat Participants may choose to have a flu shot and/ or Hepatitis A shot at the end of the study and will be monitored to check for possible side effects. Participants will return within 1 to 3 months for follow-up tests/immunizations. For Healthy Volunteers: Participants will be seen at the outpatient clinics at the National Institutes of Health hospital for up to 2 visits for the following: Review food log completed 3 days before the start of the study Blood tests Participants may choose to have a flu shot and/ or Hepatitis A shot at the end of the study and will be monitored to check for possible side effects. Participants will return within 1 to 3 months for follow-up tests/immunizations. Review of second food log completed 3 days before second outpatient visit