Clinical trials: Urea Cycle Disorder
Cancers
Ovarian Tissue Cryopreservation in Pre-Pubertal (OTC-Pre Pubertal)
The purpose of this study is to safely remove ovarian tissue in pre-pubertal pediatric patients, who are at risk for infertility from their medical treatment, for freezing for future restoration of fertility and hormone function.
- Trial name
- NCT05299710
- Testing
- Laparoscopic surgery
- Where
- United States
- Volunteers
- 250 people
- Sponsor
- Erin Rowell
Argininosuccinic Aciduria, Argininosuccinate Lyase Deficiency
Nitric Oxide Supplementation in Argininosuccinic Aciduria
This is a study involving a dietary supplement. Patients with argininosuccinic aciduria will be randomly assigned to receive either a nitric oxide dietary supplement or placebo for 2 weeks, and then crossed-over to receive the…
- Conditions
- Argininosuccinic Aciduria, Argininosuccinate Lyase Deficiency, Urea Cycle Disorders
- Trial name
- NCT02252770
- Testing
- Nitric oxide supplement
- Where
- United States
- Volunteers
- 12 people
- Sponsor
- Baylor College of Medicine
Healthy Volunteers, OTC Deficiency
Study of CMP-CPS-001 in Healthy Volunteers and Participants With Abnormal Heterozygous OTC Genotype
The objective of this clinical study is to evaluate the safety, tolerability, pharmacokinetics, and pharmacodynamics of single and multiple ascending doses of CMP-CPS-001 administered as a subcutaneous injection in adult healthy…
- Trial name
- NCT06247670
- Testing
- CMP-CPS-001
- Where
- 2 sites in Australia, Netherlands
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- CAMP4 Therapeutics Corporation
ARG1 Deficiency
Evaluation of the Safety of Loargys Arginine Test System in Loargys-treated Patients
Arginase 1 deficiency (ARG1-D) is a rare condition in which the body cannot properly break down a substance called arginine. This leads to high levels of arginine and related substances in the blood, which can cause serious…
- Trial name
- CLEAR (NCT07573059)
- Testing
- Loargys Arginine Test System
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- Immedica Pharma US Inc
Urea Cycle Disorders
Study of the Safety of HPN (Hyperion)-100 for the Long-Term Treatment of Urea Cycle Disorders (Treat UCD)
This was a long-term safety study HPN-100 in urea cycle disorder (UCD) subjects. Subjects were assessed regularly for safety and control of their venous ammonia.
- Trial name
- NCT00947297
- Testing
- HPN-100
- Where
- 22 sites in United States, Canada
- Volunteers
- 60 people
- Sponsor
- Amgen
Urea Cycle Disorders
Study in Healthy Subjects, Patients With Urea Cycle Disorders (UCD) and Carriers of UCD Mutations to Evaluate Urea Cycle Function
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…
- Trial name
- NCT01549015
- Testing
- oral administration of Sodium [1,2-13C]-Acetate
- Where
- 4 sites in Germany
- Volunteers
- 37 people, healthy volunteers welcome
- Sponsor
- Cytonet GmbH & Co. KG
Urea Cycle Disorders, Carbamoyl-Phosphate Synthase I Deficiency
Study of LNP.UCD.ABE in Patients With Urea Cycle Disorders
This is a single-site Phase 1/2 open-label umbrella clinical trial designed to evaluate the safety, tolerability, and efficacy of a single intravenous dose of LNP.UCD.ABE in 5 pediatric subjects with severe infantile-onset UCDs.
- Trial name
- NCT07667387
- Testing
- LNP.UCD.ABE
- Where
- United States
- Volunteers
- 7 people
- Sponsor
- Rebecca Ahrens-Nicklas
OTC Deficiency
Clinical Study of DTX301 AAV-Mediated Gene Transfer for Ornithine Transcarbamylase (OTC) Deficiency
The primary objective is to evaluate the efficacy of DTX301 on the improvement of ornithine transcarbamylase (OTC) function by maintaining safe plasma ammonia levels.
- Trial name
- NCT05345171
- Testing
- DTX301, Oral Corticosteroids, Sodium Acetate
- Where
- 16 sites in United States, Argentina and 8 more
- Volunteers
- 37 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
Hepatocellular Carcinoma (HCC)
Triple Recipient Strategy Using Split, Domino, and Auxiliary Techniques
The investigators report a case of the simultaneous use of split liver transplantation (SLT), domino liver transplantation (DLT) and auxiliary liver transplantation (ALT) to achieve "one donor for three recipients".
- Trial name
- NCT06683820
- Where
- China
- Volunteers
- 3 people
- Sponsor
- Second Affiliated Hospital, Zhejiang University, School of Medicine
Propionic/Methylmalonic Acidemias, Maple Syrup Urine Disease
Selective Screening of Children for Hereditary Metabolic Diseases by Tandem Mass Spectrometry in Kazakhstan
Inborn errors of metabolism (IEM) are not have specific clinical signs, they masquerade as other diseases, and are difficult to diagnose using only clinical manifestations or routine laboratory tests.
- Conditions
- Propionic/Methylmalonic Acidemias, Maple Syrup Urine Disease, Citrullinemia, Argininosuccinic Aciduria
- Trial name
- NCT05910151
- Testing
- Obtaining Dry Blood Spots From Healthy Newborns (Aged 1-7 Days), Obtaining Dry Blood Spots From Healthy Children Aged 8 Days - 7 Years, Obtaining Dry Blood Spots From Healthy Children Aged 8-18 Years
- Where
- Kazakhstan
- Volunteers
- 2,250 people, healthy volunteers welcome
- Sponsor
- West Kazakhstan Medical University
Uveitis, Posterior
Role of OCT & OCT Angiography in Patients With Posterior at the Uveitis Clinic of Assiut University Hospital.
OCT angiography is a recent evaluation of OCT technology which combines the structural assessment of ocular tissues obtained by OCT image with visualization of blood flow within the vessels in imaged area.
- Trial name
- NCT06743906
- Volunteers
- 25 people
- Sponsor
- Assiut University
Antiphospholipid (aPL)-Positive, Rheumatic Arthritis
MENA/Levant Epidemiological, Registry of Immunological & Clinical Traits (MERIT)
The primary objective of this multicenter observational registry is to characterize the clinical, epidemiological, and biological profiles of individuals of Middle Eastern, North African, and Levantine ancestry, including…
- Conditions
- Antiphospholipid (aPL)-Positive, Rheumatic Arthritis, Celiac Disease, Focal Segmental Glomerulosclerosis (FSGS)
- Trial name
- MERIT (NCT07892651)
- Where
- Jordan
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- Axiom Bioregistry
Urea Cycle Disorder, Lysinuric Protein Intolerance
Th1, Th2, Th17 Phenotype in Urea Cycle Disorders
Infection-related hyperammonemia in patients with urea cycle disorders is an important cause of morbidity and mortality. The relationship between immune system cells and the metabolic pathways used by these cells and inborn…
- Trial name
- NCT05706714
- Where
- Turkey (Türkiye)
- Volunteers
- 65 people, healthy volunteers welcome
- Sponsor
- Istanbul University - Cerrahpasa
Metabolic Diseases
Hepatocyte Transplantation for Liver Based Metabolic Disorders
The purpose of this research study is to determine whether partial irradiation of the liver and liver cell transplantation can provide help for patients with life-threatening liver-based metabolic diseases who are unlikely to…
- Trial name
- NCT01345578
- Testing
- human hepatocyte transplantation, Preparative Radiation Therapy
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- Ira Fox
Ornithine Transcarbamylase Deficiency, Ornithine Transcarbamylase Deficiency Disease
Long-term Follow-up (LTFU) Study of Participants in Any iECURE Protocol Using an Investigational Product (IP)
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…
- Conditions
- Ornithine Transcarbamylase Deficiency, Ornithine Transcarbamylase Deficiency Disease, Urea Cycle Disorders, Inborn
- Trial name
- NCT06805695
- Testing
- No Intervention
- Where
- 4 sites in United States, France and 1 more
- Volunteers
- 13 people
- Sponsor
- iECURE, Inc.
Acute Coronary Syndrome
Impact of OCT Imaging on Decision Making During PCI in ACS Patients
Optical coherence tomography (OCT) provides valuable information to guide percutaneous coronary intervention (PCI) in acute coronary syndrome (ACS) regarding lesion preparation, stent sizing, and stent optimization.
- Trial name
- NCT04444037
- Testing
- OCT-guided PCI
- Where
- Japan
- Volunteers
- 390 people
- Sponsor
- Assiut University
Inborn Errors of Metabolism, Urea Cycle Disorder
Patient and Observer Reported Outcome Measurements in Inborn Errors of Metabolism
lnborn errors of metabolism (IEM) are a heterogeneous group of rare, sometimes debilitating or even fatal diseases . In IEM, both definition and assessment of meaningful outcome parameters is often extremely difficult resulting…
- Conditions
- Inborn Errors of Metabolism, Urea Cycle Disorder, Maple Syrup Urine Disease, Phenylketonurias
- Trial name
- MetaPROM (NCT04248062)
- Testing
- Survey
- Where
- Switzerland
- Volunteers
- 69 people
- Sponsor
- University Children's Hospital, Zurich
Urea Cycle Disorder, Ornithine Transcarbamylase Deficiency
Hepatic Histopathology in Urea Cycle Disorders
This is a multi-site, retrospective chart review as well as a prospective study to evaluate histopathologic findings in liver samples from individuals with any UCD diagnosis.
- Conditions
- Urea Cycle Disorder, Ornithine Transcarbamylase Deficiency, Citrullinemia 1, ARGI Deficiency
- Trial name
- NCT04908319
- Where
- 2 sites in United States
- Volunteers
- 70 people
- Sponsor
- Baylor College of Medicine
Urea Cycle Disorders
Clinical Food Study to Evaluate the Effect of KB195 on Gut Nitrogen Metabolism in Patients With Urea Cycle Disorders
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).
- Trial name
- NCT03797131
- Testing
- KB195 (a novel mixture of oligosaccharides)
- Where
- Switzerland
- Volunteers
- 4 people
- Sponsor
- Kaleido Biosciences
Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1
Baby Detect : Genomic Newborn Screening
Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions.
- Conditions
- Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1, Phosphoglucomutase 1 Deficiency, Maturity Onset Diabetes of the Young
- Trial name
- BabyDetect (NCT05687474)
- Where
- Belgium
- Volunteers
- 6,824 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire de Liege