Clinical trials: Amino Acid Metabolism
Alkaptonuria, Homogentisic Acid
Questionnaire Follow=up Study Sonia 2
Survey of health of patients completing SONIA 2 study: A cross-sectional analysis by questionnaire
- Conditions
- Alkaptonuria, Homogentisic Acid, Homogentisate Dioxygenase, Alkaptonuria Severity Score Index
- Trial name
- QSonia (NCT04510142)
- Where
- United Kingdom
- Volunteers
- 24 people
- Sponsor
- Liverpool University Hospitals NHS Foundation Trust
Urea Cycle Disorders
Neuroimaging and Neuropsychological Outcomes in Urea Cycle Disorders
In proximal urea cycle disorders (UCD), particularly ornithine transcarbamylase deficiency (OTCD), hyperammonemia (HA) causes increased brain glutamine (Gln) which perturbation is thought to be at the core of the neurological…
- Trial name
- UCD (NCT02935283)
- Testing
- MRI, Behavioral
- Where
- United States
- Volunteers
- 56 people, healthy volunteers welcome
- Sponsor
- Children's National Research Institute
Benign Paroxysmal Positional Vertigo (BPPV), Vestibular Migraine
Metabolic Disorders and Vertigo
The purpose of investigation is to assess the levels of metabolic factors (hydroxyvitamin D, homocysteine) between patients with vestibular dysfunction of peripheral origin (BPPV) and central origin (vestibular migraine).
- Conditions
- Benign Paroxysmal Positional Vertigo (BPPV), Vestibular Migraine, Central Positional Vertigo, Vestibular Neuritis
- Trial name
- NCT04935970
- Testing
- diagnostic blood test, neuropsychological test
- Where
- Russia
- Volunteers
- 100 people
- Sponsor
- I.M. Sechenov First Moscow State Medical University
Diabetic Neuropathy, Chemotherapy Induced Neuropathy
A Clinical Outcomes Study to Measure Reduction in Pain and Numbness During Administration of an Amino Acid Formulation in Subjects Diagnosed With Peripheral Neuropathy
A clinical outcomes study measuring reduction in pain and numbness experienced in four types of peripheral neuropathy patients during 60 day administration of the an amino acid formulation.
- Conditions
- Diabetic Neuropathy, Chemotherapy Induced Neuropathy, HIV Neuropathy, Trauma Induced Neuropathy
- Trial name
- Neuron012703 (NCT01537705)
- Testing
- Neuron012703 (Medical Food)
- Where
- United States
- Volunteers
- 24 people
- Sponsor
- Targeted Medical Pharma
Phenylketonuria
Sapropterin Expanded Access Program
The Purpose of this study is to provide patients with hyperphenylalaninemia (HPA) due to Phenylketonuria (PKU) access to sapropterin dihydrochloride and to collect more information about the safety of the drug in an expanded…
- Trial name
- NCT00484991
- Testing
- Sapropterin dihydrochloride
- Where
- 36 sites in United States
- Sponsor
- BioMarin Pharmaceutical
Maple Syrup Urine Disease
Liquid Valine and Isoleucine in Maple Syrup Urine Disease
This is a prospective, observational research study in 5 children with Maple Syrup Urine Disease (MSUD). Subjects who are currently taking a valine and isoleucine supplement for MSUD will be recruited for a 56 day trial, of a new…
- Trial name
- NCT06581991
- Testing
- Valine oral solution (50mg/ml) and isoleucine oral solution (25mg/ml)
- Volunteers
- 5 people
- Sponsor
- Meta Healthcare Ltd
Intestinal Malabsorption, Critical Illness
Protein-bound Versus Free Amino Acid Nutrition During INtestinal Malabsorption in Critical Illness
In the current study, we willquantitate the difference in digestion and absorption kinetics of dietary whole protein versus free amino acids in vivo in critically ill patients admitted to the intensive care unit suffering from…
- Conditions
- Intestinal Malabsorption, Critical Illness, Protein Malnutrition
- Trial name
- PANINI (NCT04791774)
- Testing
- Milk protein (food grade protein), Fee amino acids (food grade amino acids)
- Where
- Netherlands
- Volunteers
- 16 people
- Sponsor
- Maastricht University Medical Center
Protein Metabolism
Skeletal Muscle Protein Synthetic Response to Amino Acid and Peptides
Skeletal muscle quality is an important determinant of exercise performance and overall health. It is vital for not just movement, but also metabolizing nutrients.
- Trial name
- NCT03952884
- Testing
- Resistance Exercise, No Resistance Exercise, Leucine
- Where
- United States
- Volunteers
- 10 people, healthy volunteers welcome
- Sponsor
- University of Illinois at Urbana-Champaign
PKU, Phenylketonurias
Market Research - Acceptability Study for a New PKU Protein Substitute
The aim of this study is to demonstrate that a new protein substitute is acceptable and well tolerated in children with PKU.
- Conditions
- PKU, Phenylketonurias, Inborn Errors of Metabolism, Metabolic Disease
- Trial name
- NCT04318509
- Testing
- GMPOWER
- Where
- 2 sites in United Kingdom
- Volunteers
- 8 people
- Sponsor
- Dr. Schär AG / SPA
Malignant Neoplasm
Ponatinib for Patients Whose Advanced Solid Tumor Cancer Has Activating Mutations Involving the Following Genes: FGFR1, FGFR2, FGFR3, FGFR4, RET, KIT.
This phase II trial studies how well ponatinib hydrochloride works in treating patients with cancer that has spread to other parts of the body (metastatic), has failed previous treatment (refractory), and has one of several…
- Trial name
- NCT02272998
- Testing
- ponatinib hydrochloride, laboratory biomarker analysis
- Where
- 2 sites in United States
- Volunteers
- 22 people
- Sponsor
- Sameek Roychowdhury
Ichthyosis, Palmoplantar Keratoses
Reproductive Options in Inherited Skin Diseases
The goal of this observational study is to learn about the indications for prenatal diagnostics and preimplantation genetic testing for patients/couples affected by an inherited skin disease, and evaluate the clinical outcomes of…
- Conditions
- Ichthyosis, Palmoplantar Keratoses, Epidermolysis Bullosa, Ectodermal Dysplasia
- Trial name
- REPRO-ISD (NCT06330324)
- Where
- Netherlands
- Volunteers
- 650 people
- Sponsor
- Maastricht University Medical Center
Cytomegalovirus Retinitis, HIV Infections
A Study of Foscarnet in the Treatment of Cytomegalovirus (CMV) of the Eyes in Patients With AIDS Who Cannot Use Ganciclovir
To study the safety and effectiveness of foscarnet in the treatment of AIDS patients who have active infection with cytomegalovirus (CMV) that is causing inflammation of the retina (retinitis).
- Trial name
- NCT00000697
- Testing
- Foscarnet sodium
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Phenylketonuria
Safety and Tolerability Study of rAvPAL-PEG to Treat Phenylketonuria
The purpose of this study is to assess the safety and tolerability of injections of rAvPAL-PEG in subjects with PKU.
- Trial name
- NCT00634660
- Testing
- rAvPAL-PEG
- Where
- 8 sites in United States
- Volunteers
- 25 people
- Sponsor
- BioMarin Pharmaceutical
Albinism, Ocular
NGS Panel of Incomplete Forms of Ocular Albinism
Implementation of a next-generation sequencing panel of genes to identify deleterious variants in patients with incomplete forms of albinism.
- Trial name
- DIA (NCT04495218)
- Testing
- Blood samples
- Where
- France
- Volunteers
- 53 people
- Sponsor
- University Hospital, Bordeaux
Optical Coherence Tomography (OCT) of the Retina, Mutation
Looking for VUS to Confirm Dominant Wolfram-like Syndrome Instead of Recessive Wolfram Syndrome
Looking for the pthogenicity of mutations of WFS1 gene for patients with mutation of the two alleles but a dominant phenotype
- Trial name
- VUS in Wolfram (NCT07485413)
- Where
- France
- Volunteers
- 45 people
- Sponsor
- Hôpital Necker-Enfants Malades
Cytomegalovirus Retinitis, HIV Infections
A Phase I/II Open-Labelled Trial of Intravitreal Ganciclovir Salvage Therapy for AIDS Patients With Active CMV Retinitis Who Are Intolerant of Systemic Therapy
AMENDED: 04-12-91 Population of patients changed FROM those who are intolerant of systemic therapy with NON-sight-threatening CMV retinitis TO those AIDS patients intolerant of systemic therapy with CMV retinitis.
- Trial name
- NCT00000673
- Testing
- Ganciclovir
- Where
- 2 sites in United States
- Volunteers
- 38 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Oxidative Stress, Diabetes
Metabolic Analysis in Human Sulfur Amino Acid Deficiency
Varied food intake, disease, and genetic differences result in complex diet-health interactions. In principle, information-rich metabolic analyses combined with bioinformatic tools provide an approach to explore these…
- Conditions
- Oxidative Stress, Diabetes, Heart Diseases
- Trial name
- NCT00253760
- Testing
- dietary amino acids; cysteine and methionine
- Where
- United States
- Volunteers
- 15 people, healthy volunteers welcome
- Sponsor
- National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
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
Cytomegalovirus Retinitis, HIV Infections
Comparison of Two Methods in the Treatment of Cytomegalovirus of the Eyes in Patients With AIDS
To evaluate the effect of MSL 109, human monoclonal anti-cytomegalovirus (CMV) antibody, on time to progression of CMV retinitis. To determine the safety and pharmacokinetic profile of MS 109.
- Trial name
- NCT00001061
- Testing
- Sevirumab, Foscarnet sodium, Ganciclovir
- Where
- 20 sites in United States
- Volunteers
- 167 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Febrile Illness Acute, Inflammation
The Effects of Amino Acid Supplement During Acute Inflammation.
The purpose of the study is to investigate the metabolic effects during acute inflammation with and without the nutritional supplement of amino acids. E.
- Conditions
- Febrile Illness Acute, Inflammation, Metabolic Diseases
- Trial name
- NCT01705782
- Testing
- E. coli endotoxin, US standard
- Where
- Denmark
- Volunteers
- 8 people, healthy volunteers welcome
- Sponsor
- University of Aarhus