Clinical trials: Amino Acid Metabolism, Inborn Errors
Urea Cycle Disorder, Organic Acidemia
Systemic Biomarkers of Brain Injury From Hyperammonemia
Ammonia is a waste product of protein and amino acid catabolism and is also a potent neurotoxin. High blood ammonia levels on the brain can manifest as cytotoxic brain edema and vascular compromise leading to intellectual and…
- Conditions
- Urea Cycle Disorder, Organic Acidemia, Maple Syrup Urine Disease, Glutaric Acidemia I
- Trial name
- NCT04602325
- Where
- United States
- Volunteers
- 24 people
- Sponsor
- Children's National Research Institute
Acute Coronary Syndrome
Vessel Wall Response of the Bio-Active-stent and Everolimus-Eluting Stent Assessed By Optical Coherence Tomography
The purpose of the trial is to evaluate the completeness of struts coverage and vessel wall response (strut malapposition, neoin-timal formation) to the bio-active-stent (BAS) versus ever-olimus-eluting stent (EES) implanted for…
- Trial name
- BASE-OCT (NCT01080859)
- Testing
- OCT
- Where
- Finland
- Volunteers
- 40 people
- Sponsor
- The Hospital District of Satakunta
Phenylketonuria, Inborn Errors of Metabolism
Evaluation of PKU Start
To evaluate the acceptability, tolerance and effect on metabolic control of PKU Start, a new Phe free protein substitute for the dietary management of PKU in infants from birth.
- Trial name
- PKU Start (NCT03058848)
- Testing
- PKU Start
- Where
- 3 sites in United Kingdom
- Volunteers
- 10 people
- Sponsor
- Vitaflo International, Ltd
Citrullinemia
Nitric Oxide Flux and Ureagenesis in Argininosuccinate Synthetase Deficiency (ASSD)(Citrullinemia I)
The urea cycle consists of a series of chemical reactions through which the body converts toxic waste- nitrogen into a substance called urea that can be disposed of easily.
- Trial name
- NOASSD (NCT01610089)
- Testing
- stable isotope infusion
- Where
- United States
- Volunteers
- 6 people, healthy volunteers welcome
- Sponsor
- Baylor College of Medicine
Ornithine Transcarbamylase Deficiency Disease
Phase I Pilot Study of Liver-Directed Gene Therapy for Partial Ornithine Transcarbamylase Deficiency
OBJECTIVES: Evaluate the safety and feasibility of administering recombinant adenovirus containing the ornithine transcarbamylase gene to adults with partial ornithine transcarbamylase deficiency.
- Trial name
- NCT00004386
- Testing
- recombinant adenovirus containing the ornithine transcarbamylase gene
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Hereditary Tyrosinemia, Type I
Hereditary Hepatorenal Tyrosinemia Natural History in Egypt and the Arab World (Multicenter Clinical Study)
The purpose of the registry/repository is to understand the natural history of tyrosinemia in our region and to provide a mechanism to store data and specimens to support the conduct of future research about hereditary…
- Trial name
- NCT03446586
- Where
- Egypt
- Volunteers
- 50 people
- Sponsor
- Yassin Abdelghaffar Charity Center for Liver Disease and Research
Oculocerebrorenal Syndrome
Study of the Pathophysiological Mechanisms Involved in Bleeding Events
Lowe syndrome is associated with mutations in the OCRL1 gene, which encodes OCRL1, a phosphatidylinositol-4, 5-bisphosphate (PtdIns(4, 5)P (2))5-phosphatase.
- Trial name
- LOWE (NCT01314560)
- Testing
- Blood sample
- Where
- France
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Pku Phenylketonuria, PAH Deficiency
BH4 Responsiveness in PAH Deficiency PKU Patients
Most forms of Phenylketonuria and hyperphenylalanemia are caused by mutations in the PAH gene (phenylalanine hydroxylase) which is responsible for the conversion of Phe into tyrosine, in the presence of the molecular oxygen and…
- Trial name
- NCT04227080
- Testing
- BH4
- Volunteers
- 40 people
- Sponsor
- Taipei Veterans General Hospital, Taiwan
Propionic Acidemia, Methylmalonic Acidemia
Long-term Outcome of N-Carbamylglutamate Treatment in Propionic Acidemia and Methylmalonic Acidemia
Background: Very few drugs exist that treat hyperammonemia, specifically PA and MMA. Diet restrictions and alternate pathway agents are the current primary treatments, but they frequently fail to prohibit brain damage.
- Trial name
- NCT01597440
- Testing
- N-carbamylglutamate, Standard of Care
- Where
- 7 sites in United States
- Volunteers
- 1 people
- Sponsor
- Mendel Tuchman
Phenylketonuria
A Study of Sepiapterin in Participants With Phenylketonuria (PKU)
The main purpose of this trial is to evaluate the long-term efficacy of sepiapterin on preserving neurocognitive functioning in children with PKU when treatment is initiated in early childhood.
- Trial name
- EPIPHENY (NCT06302348)
- Testing
- Sepiapterin
- Where
- 14 sites in United States, Australia and 5 more
- Volunteers
- 56 people
- Sponsor
- PTC Therapeutics
Metabolic Disorder, Arginine; Hyperaminoaciduria
Evaluation of Arginine in Periodontal and Cardiovascular Disease
Asymmetric dimethylarginine (ADMA) plays a key role in endothelial function and may be a link for the known interaction of periodontitis and coronary heart disease (CHD).
- Trial name
- NCT03873948
- Testing
- Evaluation of arginine serum level
- Where
- Italy
- Volunteers
- 141 people, healthy volunteers welcome
- Sponsor
- University of Messina
Phenylketonuria, Healthy
Safety and Tolerability of SYNB1618 in Healthy Adult Volunteers and Adult Subjects With Phenylketonuria
This Phase 1/2a, first-in-human, oral single and multiple dose-escalation, randomized, double-blinded, placebo-controlled study is evaluating SYNB1618 in healthy volunteers (HV) and subjects diagnosed with phenylketonuria (PKU)…
- Trial name
- PKU (NCT03516487)
- Testing
- SYNB1618
- Where
- 4 sites in United States
- Volunteers
- 70 people, healthy volunteers welcome
- Sponsor
- Synlogic
Inborn Errors of Metabolism, Propionic Aciduria
Characterization of Intestinal Microbiota in Children With Inborn Errors of Metabolism (IEM)
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.
- Conditions
- Inborn Errors of Metabolism, Propionic Aciduria, Methylmalonic Aciduria, Urea Cycle Disorder
- Trial name
- IEM (NCT05330039)
- Where
- Switzerland
- Volunteers
- 22 people, healthy volunteers welcome
- Sponsor
- Emma Marie Caroline Slack
Biotinidase Deficiency
Study of ORL-1B in Patients With Biotinidase Deficiency
An Open-label, Single-arm, Phase 2 Study of Biotin in Patients With Biotinidase Deficiency.
- Trial name
- NCT03269045
- Testing
- ORL-1B
- Volunteers
- 20 people
- Sponsor
- Orpha Labs
Phenylketonuria (PKU)
A Clinical Study on the Safety and Tolerability of PL54 Injection in Adult Patients With Phenylketonuria (PKU)
The primary objective of this clinical trial is to evaluate the safety and tolerability of single and multiple administrations of PL54 in patients aged 18-55 years.
- Trial name
- NCT07672756
- Testing
- PL54
- Where
- China
- Volunteers
- 48 people
- Sponsor
- Chongqing Peg-Bio Biopharm Co., Ltd.
Phenylketonuria
Safety and Therapeutic Effects of Sapropterin Dihydrochloride on Neuropsychiatric Symptoms in Phenylketonuria (PKU) Patients
This double-blind, placebo-controlled, randomized study is designed to evaluate the safety and therapeutic effects of sapropterin dihydrochloride on neuropsychiatric symptoms in subjects with PKU.
- Trial name
- NCT01114737
- Testing
- Sapropterin dihydrochloride
- Where
- 36 sites in United States, Canada
- Volunteers
- 206 people
- Sponsor
- BioMarin Pharmaceutical
Phenylketonuria (PKU)
A Pilot Study on Diurnal Variation
This self-controlled, prospective, pilot study is designed to gather information regarding the diurnal variation (changes that occur each day) in the levels of plasma phenylalanine (Phe) and tyrosine in patients with…
- Trial name
- NCT01806051
- Testing
- Kuvan
- Where
- United States
- Volunteers
- 6 people, healthy volunteers welcome
- Sponsor
- Dr. Linda Randolph
Multiple Sclerosis, Optic Neuritis, Demyelinating Disease
Visual (Path)Ways in Multiple Sclerosis - Part II
Multiple sclerosis (MS) is an inflammatory demyelinating and degenerative disease of the central nervous system. The mechanisms of neuro-axonal loss remain incompletely elucidated.
- Trial name
- VWIMS - II (NCT06776224)
- Testing
- Measurement of retinal vascular density and visual cognition
- Where
- France
- Volunteers
- 64 people
- Sponsor
- University Hospital, Lille
Phenylketonuria (PKU)
Evaluation of BH4 Responsiveness in Our PKU Patients
This study aims to evaluate BH4 responsiveness in our PKU patients and to correlate BH4 responsiveness with their genotype
- Trial name
- NCT07255599
- Testing
- Sapropterin Dihydrochloride (BH4, tetrahydrobiopterin)
- Where
- Egypt
- Volunteers
- 20 people
- Sponsor
- Sohag University
Coronary Vessels, Procedure PCI
AI Quantitative Coronary Angiography Versus Optical Coherent Tomography Guidance for Coronary Stent Implantation
This study is to establish the primary hypothesis thatAI -QCA guided PCI is non-inferior to Optical coherence tomography-guided Percutaneous coronary intervention regarding minimal Stent area by Final OCT and Procedural MACE
- Trial name
- FLASH (NCT05388357)
- Testing
- Intervention Procedure: PCI
- Where
- 13 sites in South Korea
- Volunteers
- 400 people
- Sponsor
- Asan Medical Center