Clinical trials: Amino Acid
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
Polycystic Ovarian Syndrome, Obesity
Oral Amino Acid Nutrition to Improve Glucose Excursions in PCOS
The Investigators will measure hepatic glucose and fat metabolism in obese girls with Polycystic Ovarian Syndrome (PCOS) and hepatic steatosis (HS) after taking 4 weeks of an essential amino acid (EAA) supplement or placebo and…
- Conditions
- Polycystic Ovarian Syndrome, Obesity, Hepatic Steatosis
- Trial name
- ORANGE (NCT03717935)
- Testing
- Essential Amino Acid (EAA) Supplement
- Where
- United States
- Volunteers
- 27 people
- Sponsor
- University of Colorado, Denver
To Assess the Safety and Tolerabiltiy of an Amino Acid Composition in Subjects With Sickle Cell Disease, Anemia, Sickle Cell
To Assess Safety, Tolerability and Physiological Effects on Structure and Function of AXA4010 in Subjects With Sickle Cell Disease
This is an open-label study to understand the safety and tolerability of AXA4010, a novel composition of amino acids in adult and adolescent subjects with sickle cell disease over 12 weeks.
- Conditions
- To Assess the Safety and Tolerabiltiy of an Amino Acid Composition in Subjects With Sickle Cell Disease, Anemia, Sickle Cell, Sickle Cell Anemia, Sickle Cell Disorders
- Trial name
- NCT04134299
- Testing
- AXA4010
- Where
- 4 sites in United States
- Volunteers
- 9 people
- Sponsor
- Axcella Health, Inc
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
Diarrhea, Infantile
Efficacy and Safety of "VS002A" With the Standard WHO-ORS in Non-cholera Acute Watery Diarrhea in Infants and Young Children
Randomized double blinded clinical trial comparing amino acid based oral rehydration solution/medical food and glucose-based oral rehydration solution is infectious diarrhea in pediatric population
- Trial name
- NCT04677296
- Testing
- VS002A, WHO-ORS
- Where
- Bangladesh
- Volunteers
- 312 people
- Sponsor
- Entrinsic Bioscience Inc.
Aromatic Amino Acid Decarboxylase Deficiency
A Clinical Trial for Treatment of Aromatic L-amino Acid Decarboxylase (AADC) Deficiency Using AAV2-hAADC - An Expansion
This clinical trial expansion is to offer patients, who are not enrolled into the Phase I/II trial, a chance of treatment, to provide the experience in this gene therapy, and to increase the dose slightly.
- Trial name
- NCT02926066
- Testing
- AAV2-hAADC
- Where
- Taiwan
- Volunteers
- 12 people
- Sponsor
- National Taiwan University Hospital
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
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
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
Type I Diabetes
The Use of Glutamic Acid Decarboxylase (GAD) and Gamma-Amino Butyric Acid (GABA) in the Treatment of Type I Diabetes
Type I Diabetes is an auto immune disease in which the body's immune system attacks and destroys the insulin-producing beta cells of the pancreas. Therefore, children affected by this condition present with high blood sugars.
- Trial name
- GABA (NCT02002130)
- Testing
- Active Oral GABA and Active GAD-alum injection
- Where
- United States
- Volunteers
- 101 people
- Sponsor
- University of Alabama at Birmingham
Cytomegalovirus Infections, HIV Infections
Preventing Cytomegalovirus (CMV) Organ Damage With Valganciclovir in People With HIV
Cytomegalovirus (CMV) infection is a common opportunistic infection (OI) in HIV patients. The purpose of this study is to find out whether valganciclovir, an antiviral approved by the FDA for the treatment of CMV in the eye, is…
- Trial name
- NCT00006145
- Testing
- Valganciclovir
- Where
- 57 sites in United States, Puerto Rico
- Volunteers
- 350 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Urea Cycle Disorders
PCORI Urea Cycle Disorder Study
Urea cycle disorders (UCD) are genetic disorders caused by the liver's inability to break down ammonia from proteins; ammonia then accumulates and is toxic to the brain.
- Trial name
- NCT02740153
- Testing
- No Intervention Given
- Where
- United States
- Volunteers
- 187 people, healthy volunteers welcome
- Sponsor
- Children's National Research Institute
Methylmalonic Acidemia, Propionic Acidemia
"The MaP Study": Mapping the Patient Journey in MMA and PA
Longitudinal, exploratory, natural history study of patients with MMA due to mut deficiency and PA to characterize the changes in blood disease biomarkers over time and the frequency and severity of clinical events related to…
- Trial name
- NCT03484767
- Where
- 17 sites in United States, France and 2 more
- Volunteers
- 97 people
- Sponsor
- ModernaTX, Inc.
Urea Cycle Disorders
Human Heterologous Liver Cells for Infusion in Children With Urea Cycle Disorders
Treatment with liver cell infusion for children with urea cycle disorders (UCD).
- Trial name
- NCT01195753
- Testing
- HHLivC
- Where
- 5 sites in United States, Canada
- Volunteers
- 10 people
- Sponsor
- Cytonet GmbH & Co. KG
Amino Acid Metabolism, Inborn Errors
Ataluren for Nonsense Mutation Methylmalonic Acidemia
Methylmalonic acidemia (MMA) is a rare genetic disorder caused by mutations in the gene for mitochondrial enzyme methylmalonyl-CoA mutase (MCM) or in one of the genes for adenosylcobalamin (AdoCbl).
- Trial name
- NCT01141075
- Testing
- Ataluren
- Where
- 9 sites in Belgium, France and 4 more
- Volunteers
- 11 people
- Sponsor
- PTC Therapeutics
Aromatic L-Amino Acid Decarboxylase Deficiency
Prevalence of High Plasmatic 3OMethyldopa Level in a Specific Population of Patients With a Symptomatology Compatible With AADC Deficiency
O-MethyDopa (3-OMD) is a metabolite of the Dopaminergic pathway that accumulates in case of a default in the neurotransmitter biosynthesis due to a key enzyme deficiency: Aromatic L-Amino Acid Decarboxylase (AADC) deficiency.
- Trial name
- DOPADEF (NCT05211609)
- Testing
- Plasmatic 3-O-Methyldopa dosage
- Where
- 2 sites in France
- Volunteers
- 388 people
- Sponsor
- University Hospital, Montpellier
Neurology, Aromatic Amino Acid Decarboxylase Deficiency
Newborn Screening and Early Diagnosis of AADC Deficiency in the Ligurian Population
Aromatic L-amino acid decarboxylase deficiency (AADC-D) is a rare genetic disorder that affects the production of neurotransmitters in the brain and can cause severe neurological and developmental problems.
- Conditions
- Neurology, Aromatic Amino Acid Decarboxylase Deficiency, Pediatric Neurological Disorder
- Trial name
- NBS3OMD22 (NCT07877714)
- Where
- 10 sites in Italy
- Volunteers
- 16,000 people
- Sponsor
- Istituto Giannina Gaslini
Amino Acid Metabolism, Inborn Errors
Study of Treatment and Metabolism in Patients With Urea Cycle Disorders
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 .
- Trial name
- NCT00004307
- Testing
- Protein and calorie controlled diet, Ornithine transcarbamylase vector
- Where
- United States
- Volunteers
- 66 people, healthy volunteers welcome
- Sponsor
- National Center for Research Resources (NCRR)