View clinical trials related to Urea Cycle Disorders, Inborn.
Filter by:The purpose of this study is to assess the safety and to appraise the efficacy of one cycle of Hepastem (Heterologous Human Adult Liver-derived Progenitor Cells, HHALPC) infusions in paediatric patients suffering from CN or UCD. The study duration: 12 months starting from the day of treatment: 6 months active surveillance and 6 months observation post-infusion.
This is a pilot study which will test the safety and feasibility of hypothermia treatment as adjunct therapy to conventional treatment of hyperammonemic encephalopathy (HAE) in neonates versus conventional treatment (dialysis, nutritional therapy, and ammonia scavenging drugs) only. The endpoint of the pilot study will be reached when either 24 patients have been enrolled and no serious adverse events were observed, when no patient has been enrolled in 5 years, or when serious adverse events occur which are clearly linked to the use of hypothermia. These would be serious complications not seen in patients on conventional therapy (dialysis , nutritional therapy, ammonia scavenging drugs) for HAE.
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.
The primary purpose of the proposed study is to characterize the oxidative stress and inflammatory cytokine status in UCD during baseline and decompensated states.
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
This non-randomized, open-label study was approximately one year in duration and consisted of a short term NaPBA to HPN-100 switchover part involving two overnight stays followed by a 12-month long term treatment period involving monthly visits.
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 was an open-label, long-term safety study of HPN-100 (RAVICTI; glycerol phenylbutyrate) in participants with a urea cycle disorder (UCD) who completed the safety extensions of HPN-100-005 (NCT00947544; HPN-100-005SE), HPN-100-006 (NCT00947297; HPN-100-007), or HPN-100-012 (NCT01347073; HPN-100-012SE). The initial studies were 1- to 2-week crossover studies, and their associated safety extensions were 12-month, open-label studies. All participants who completed the initial studies were eligible to enroll in the associated safety extension studies, and new participants were also permitted to enroll directly into the safety extension studies.
Treatment with liver cell infusion for children with urea cycle disorders (UCD).
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.