Clinical trials: BCAA
Urea Cycle Disorder
A Study of the Safety, Efficacy and Pharmacokinetics of Glycerol Phenylbutyrate in Pediatric Subjects Under 2 Years of Age With Urea Cycle Disorders
This is an open-label study consisting of a transition period to RAVICTI, followed by a safety extension period for at least 6 months and up to 24 months of treatment with RAVICTI, depending on age at enrollment.
- Trial name
- NCT02246218
- Testing
- RAVICTI
- Where
- 17 sites in United States, Canada
- Volunteers
- 27 people
- Sponsor
- Amgen
Homocystinuria
Oxidative Stress Markers In Inherited Homocystinuria And The Impact Of Taurine
Cystathionine beta-synthase deficiency is an inherited disease that results in elevation of a substance called homocysteine (Hcy) in blood and urine.
- Trial name
- NCT01192828
- Testing
- taurine
- Where
- 4 sites in United States
- Volunteers
- 15 people
- Sponsor
- University of Colorado, Denver
Urea Cycle Disorders, Inborn
Comparative Efficacy of Phenylbutyrate (PBA) vs. Benzoate in Urea Cycle Disorders
The investigators will study and compare how effectively sodium phenylbutyrate, sodium benzoate, and a combination of the two, help excrete nitrogen in healthy volunteers.
- Trial name
- BPA/Benzoate (NCT02111200)
- Testing
- Sodium Benzoate, Sodium Phenylbutyrate
- Where
- United States
- Volunteers
- 7 people, healthy volunteers welcome
- Sponsor
- Baylor College of Medicine
Phenylketonuria
The Effectiveness of Kuvan in Amish PKU Patients
The purpose of this study is to determine if Amish patients with PKU show responsiveness after a high dose, prolonged Saproterin trial.
- Trial name
- NCT02677870
- Testing
- saproterin dihydrochloride, Diet treatment
- Where
- United States
- Volunteers
- 7 people
- Sponsor
- University Hospitals Cleveland Medical Center
Arginase 1 Deficiency
Pegzilarginase in Subjects <24 Months Old With Arginase 1 Deficiency
This is an open-label, multicentre study to evaluate the safety, PK, and activity (PD) of weekly subcutaneous (SC) administration of pegzilarginase in subjects with ARG1-D who are < 24 months of age.
- Trial name
- NCT06582524
- Testing
- Pegzilarginase
- Where
- 3 sites in Austria, Portugal and 1 more
- Volunteers
- 3 people
- Sponsor
- Immedica Pharma AB
Depressive Disorder, Major, Depressive Disorder, Treatment-Resistant
Safety, Tolerability, PK Profile, and Symptom Response of a 7-Day Dosing With 25 mg or 50 mg Daily of REL-1017 in MDD
This a Phase 2a, multicenter, randomized, double-blind, placebo controlled 3 arm study to assess the safety and tolerability of multiple oral doses of REL-1017 25 mg and 50 mg as adjunctive therapy in the treatment of patients…
- Trial name
- NCT03051256
- Testing
- REL-1017
- Where
- 10 sites in United States
- Volunteers
- 62 people
- Sponsor
- Relmada Therapeutics, Inc.
Urea Cycle Disorder
Manipulating the Gut Microbiome Study
The objective is to determine if acetohydroxamic acid (AHA) can prevent hydrolysis of urea by inhibiting the bacterial urease of gut flora of both healthy control adults as well as adults with urea cycle disorders
- Trial name
- NCT03181828
- Testing
- Acetohydroxamic Acid Oral Tablet, No treatment
- Where
- United States
- Volunteers
- 4 people, healthy volunteers welcome
- Sponsor
- Nicholas Ah Mew
Urea Cycle Disorder
Chronic Liver Disease in Urea Cycle Disorders
This is a pilot, cross-sectional study to assess liver stiffness and markers of hepatic injury, function, and fibrosis in patients with urea cycle disorders.
- Trial name
- NCT03721367
- Testing
- Diagnostic Ultrasound
- Where
- United States
- Volunteers
- 28 people
- Sponsor
- Baylor College of Medicine
Anatomic Stage IV Breast Cancer AJCC v8, Invasive Breast Lobular Carcinoma
Fluciclovine and PSMA PET/CT for the Classification and Improved Staging of Invasive Lobular Breast Cancer
This phase I trial studies how well fluciclovine positron emission tomography (PET)/computed tomography (CT) and PSMA PET/CT work in helping doctors understand and classify invasive lobular breast cancer in patients with invasive…
- Conditions
- Anatomic Stage IV Breast Cancer AJCC v8, Invasive Breast Lobular Carcinoma, Metastatic Breast Lobular Carcinoma, Prognostic Stage IV Breast Cancer AJCC v8
- Trial name
- NCT04750473
- Testing
- Computed Tomography, Fluciclovine F18, Gallium Ga 68 Gozetotide
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- Emory University
Gastroenteropancreatic Neuroendocrine Tumors
Post-Authorization Safety Study (PASS) of LysaKare® in Adult Gastroenteropancreatic Neuroendocrine Tumor (GEP-NET) Patients
The purpose of the study was to evaluate the effect of arginine/lysine solution administration on serum potassium levels. A systematic assessment of serum potassium levels was performed during infusion and up to 24 hours post…
- Trial name
- NCT04524442
- Testing
- arginine/lysine
- Where
- 7 sites in Italy, Netherlands and 2 more
- Volunteers
- 42 people
- Sponsor
- Advanced Accelerator Applications
Parathyroid Disease
Anti-3-[18F]FACBC Imaging of Parathyroid Adenomas
Hyperparathyroidism (excessive production of parathyroid hormone (PTH) usually caused by a small growth called an adenoma in the parathyroid glands) is an increasingly significant medical and public health condition.
- Trial name
- NCT01574287
- Testing
- FACBC
- Where
- United States
- Volunteers
- 4 people
- Sponsor
- David M. Schuster, MD
NAFLD
Study of the Safety and Tolerability of AXA1957 in Adolescent Subjects With Non-Alcoholic Fatty Liver Disease (NAFLD)
This is a randomized, single blind study to determine whether AXA1957, a novel composition of amino acids, is safe and well tolerated.
- Trial name
- NCT04073407
- Testing
- AXA1957
- Where
- 4 sites in United Kingdom
- Volunteers
- 9 people
- Sponsor
- Axcella Health, Inc
Phenylketonuria
Dose-Finding Study to Evaluate the Safety, Efficacy, & Tolerability of Multiple Doses of rAvPAL-PEG in Subjects With PKU
The purpose of this study is to evaluate whether weekly injections of phenylalanine ammonia lyase (rAvPAL-PEG) can reduce blood phenylalanine concentrations in PKU subjects and whether repeated administration is safe.
- Trial name
- NCT00925054
- Testing
- rAvPAL-PEG 0.001 mg/kg, rAvPAL-PEG 0.003 mg/kg, rAvPAL-PEG 0.01 mg/kg
- Where
- 11 sites in United States
- Volunteers
- 40 people
- Sponsor
- BioMarin Pharmaceutical
Phenylketonuria
Efficacy and Safety of SYNB1934 in Patients With PKU (SYNPHENY-3)
SYNB1934-CP-003 was designed as a 3-part, adaptive study consisting of a dose-escalating, open-label period (DEP; Part 1) of up to 15 weeks, followed by a 4-week, double-blind, placebo-controlled, randomized withdrawal period…
- Trial name
- SYNPHENY-3 (NCT05764239)
- Testing
- SYNB1934v1
- Where
- 21 sites in United States, Canada and 2 more
- Volunteers
- 35 people
- Sponsor
- Synlogic
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
Albinism
Trial of L-DOPA as a Treatment to Improve Vision in Albinism
This project will evaluate the effect of two doses of levodopa (L-DOPA) in a randomized, placebo-controlled, double-masked clinical trial to see if vision can be improved in individuals with albinism.
- Trial name
- NCT01176435
- Testing
- Levodopa
- Where
- United States
- Volunteers
- 45 people
- Sponsor
- University of Minnesota
Obesity, Type2diabetes
The Effects of Glucagon on Hepatic Metabolism
Whether impaired postprandial glucagon suppression in prediabetes and T2DM is an attempt to overcome resistance to glucagon's actions on hepatic AA catabolism, a defect in α-cell function, or a combination of both are important…
- Conditions
- Obesity, Type2diabetes, NAFLD
- Trial name
- NCT05500586
- Testing
- Glucagon response study
- Where
- United States
- Volunteers
- 21 people, healthy volunteers welcome
- Sponsor
- Adrian Vella
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
Phenylketonuria (PKU)
Phase 3 Study to Evaluate the Efficacy & Safety of Self-Administered Injections of BMN165 by Adults With PKU
The BMN 165 clinical development program has been designed to demonstrate the safety and efficacy of BMN 165 in reducing blood Phe concentrations in adults with PKU.
- Trial name
- Prism-2 (NCT01889862)
- Testing
- BMN165 20mg/day, BMN165 40mg/day
- Where
- 29 sites in United States
- Volunteers
- 215 people
- Sponsor
- BioMarin Pharmaceutical
Hyperphenylalaninemia, Phenylketonuria
Bone Mineral Density in Adults With Hyperphenylalaninemia on Kuvan Therapy
Prospective study to compare the bone mineral density in adults with HPA on KUVAN™ therapy to those not on therapy. The investigators hypothesize that after one year of KUVAN™ therapy, there will be an improvement in their bone…
- Trial name
- NCT01541397
- Testing
- Sapropterin
- Where
- United States
- Volunteers
- 6 people, healthy volunteers welcome
- Sponsor
- The University of Texas Health Science Center, Houston