Clinical trials: Carnitine Deficiency
Long-chain Fatty Acid Oxidation Disorders (LC-FAOD)
A Study to Determine the Effect of Triheptanoin Compared With Even-Chain MCT on MCEs in Pediatric Patients With LC-FAOD
The main goal of this study is to evaluate the effects of triheptanoin versus Medium-chain Triglycerides (MCT) on frequency of Major Clinical Events (MCEs).
- Trial name
- NCT05933200
- Testing
- Triheptanoin, MCT Oil
- Where
- 15 sites in Czechia, Germany and 5 more
- Volunteers
- 69 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
Cocaine Use Disorder
A Study to Investigate the Interaction Between TMP-301 and Cocaine.
This will be a randomized, double-blind, placebo-controlled, parallel-group study to assess the safety, tolerability, pharmacokinetics, and pharmacodynamics of oral TMP-301, given concurrently with cocaine.
- Trial name
- NCT06648668
- Testing
- TMP-301
- Where
- United States
- Volunteers
- 18 people
- Sponsor
- Tempero Bio, Inc.
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
Carnitine Palmitoyl Transferase Type 1A (CPT1A) Deficiency
Metabolic Consequences of CPT-1 Deficiency
The purpose of this study is to learn more about how long children with CPT-1 deficiency can wait between meals without developing low blood sugar or symptoms of low blood sugar.
- Trial name
- NCT00653666
- Testing
- Medically supervised fasting
- Where
- United States
- Volunteers
- 12 people
- Sponsor
- Oregon Health and Science University
HIV Infections, Peripheral Nervous System Diseases
Acetyl-L-Carnitine for the Treatment of NRTI-Associated Peripheral Neuropathy
The purpose of this study is to determine if acetyl-L-carnitine (ALC) reduces pain, numbness, and tingling in the feet and legs of patients with nucleoside reverse transcriptase inhibitor (NRTI)-associated peripheral neuropathy.
- Trial name
- NCT00050271
- Testing
- Acetyl-L-carnitine
- Where
- 11 sites in United States, Puerto Rico
- Volunteers
- 27 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
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
Diabetes Mellitus, Type I, Hypoglycemia
Carnitine Levels and Carnitine Supplementation in Type I Diabetes
The purpose of this study is to determine whether type I diabetics with carnitine deficiency exhibit increased numbers of hypoglycemic (low blood sugars) events and if unrecognized hypoglycemia occurs during continuous 72-hour…
- Trial name
- NCT00351234
- Testing
- Carnitine (drug)
- Where
- United States
- Volunteers
- 200 people
- Sponsor
- Children's Mercy Hospital Kansas City
Pulmonary Arterial Hypertension, Familial Primary Pulmonary Hypertension
Carnitine Consumption and Augmentation in Pulmonary Arterial Hypertension
In preparation for a future mechanistic study, investigators now propose to test the specific hypothesis that carnitine consumption is not reduced in PAH, that plasma carnitine levels are stable over time in PAH and that…
- Conditions
- Pulmonary Arterial Hypertension, Familial Primary Pulmonary Hypertension, Primary Pulmonary Hypertension, Lung Diseases
- Trial name
- NCT04908397
- Testing
- L-carnitine
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Vanderbilt University Medical Center
Carnitine Deficiency
Identification of Carnitine-Responsive Cardiomyopathy
There are some adults with skeletal muscle weakness (called "myopathy") and heart muscle weakness (called "cardiomyopathy") who have low blood levels of a compound called carnitine as a cause of their problems.
- Trial name
- C001 (NCT01904396)
- Testing
- Carnitine
- Where
- Canada
- Volunteers
- 30 people
- Sponsor
- University Health Network, Toronto
HIV Infections, Distal Symmetric Polyneuropathy
ALCAR Prophylaxis Study
The purpose of this study is to determine whether Acetyl L-carnitine can prevent the development of nerve damage, known as neuropathy, in individuals taking anti-HIV drugs over a 48-week period.
- Trial name
- NCT00225160
- Testing
- acetyl L-carnitine
- Where
- United Kingdom
- Volunteers
- 50 people
- Sponsor
- Royal Free Hampstead NHS Trust
Carnitine Palmitoyltransferase II Deficiency, Very Long Chain Acyl Coa Dehydrogenase Deficiency
Effect of Bezafibrate on Muscle Metabolism in Patients With Fatty Acid Oxidation Defects
The investigators propose to evaluate the effect of bezafibrate on metabolism during exercise in 22 adult patients affected with carnitine palmitoyltransferase II (CPTII) or very-long chain acyl-CoA-dehydrogenase (VLCAD)…
- Trial name
- Bezafibrate (NCT00983788)
- Testing
- Bezafibrate
- Where
- Denmark
- Volunteers
- 12 people
- Sponsor
- Copenhagen University Hospital, Rigshospitalet
Long Chain Fatty Acid Oxidation Disorders
Expanded Access to Triheptanoin
Expanded access may be provided for qualified patients who have limited treatment options and are not eligible for a clinical trial.
- Trial name
- NCT03773770
- Testing
- Triheptanoin
- Sponsor
- Ultragenyx Pharmaceutical Inc
Very Long-chain acylCoA Dehydrogenase (VLCAD) Deficiency, Carnitine Palmitoyltransferase Deficiencies (CPT1, CPT2)
Compassionate Use of Triheptanoin (C7) for Inherited Disorders of Energy Metabolism
This is a compassionate use study to allow patients already taking triheptanoin (C7) through previous studies to continue to receive the supplement.
- Conditions
- Very Long-chain acylCoA Dehydrogenase (VLCAD) Deficiency, Carnitine Palmitoyltransferase Deficiencies (CPT1, CPT2), Mitochondrial Trifunctional Protein Deficiency, Long-chain Hydroxyacyl-CoA Dehydrogenase Deficiency
- Trial name
- NCT01461304
- Testing
- triheptanoin
- Where
- United States
- Sponsor
- Jerry Vockley, MD, PhD
Hyperlipidemia, HIV Infections
Effects of L-Carnitine on Postprandial Clearance of Triglyceride-rich Lipoproteins in HIV Patients on HAART
Included in this study will be patients with HIV and being treated with highly active antiretroviral medications (HAART) including protease inhibitors (PI) or non-nucleoside reverse transcriptase inhibitors (NNRTI).
- Trial name
- NCT00386971
- Testing
- L-carnitine
- Where
- United States
- Volunteers
- 13 people
- Sponsor
- University of California, Davis
Carnitine Palmitoyltransferase (CPT I or CPT II) Deficiency, Very Long Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency
Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD) Extension Study for Subjects Previously Enrolled in Triheptanoin Studies
The primary objective of this study is to evaluate the long-term safety and efficacy of UX007 in participants with LC-FAOD. The secondary objectives of this study are to evaluate the effect of UX007 on energy metabolism in…
- Conditions
- Carnitine Palmitoyltransferase (CPT I or CPT II) Deficiency, Very Long Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency, Long-chain 3-hydroxy-acyl-CoA Dehydrogenase (LCHAD) Deficiency, Trifunctional Protein (TFP) Deficiency
- Trial name
- NCT02214160
- Testing
- UX007
- Where
- 11 sites in United States, United Kingdom
- Volunteers
- 94 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
Inborn Errors of Metabolism
Nutritional Therapy of the Deficits of Oxidation Mitochondrial of the Fatty Acids
Usual dietary therapies of mitochondrial fatty acid oxidation disorders (FAO) are based on 3 strategies: limitation of lipid intake in the diet; supplementation of the diet with medium-chain triglycerides (MCT) for patients…
- Trial name
- NCT00328159
- Testing
- Oil special 107 and MYGLIOL 810
- Where
- France
- Volunteers
- 20 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Carnitine Transporter Deficiency
Influence of OCTN2 Variants on Carnitine Status and Plasma Triglycerides
The current study is part of a large multi-investigator grant to look at the pharmacogenetics of a number of membrane transporters.
- Trial name
- NCT00187733
- Testing
- Fasting blood and urine collection
- Where
- United States
- Volunteers
- 16 people, healthy volunteers welcome
- Sponsor
- University of California, San Francisco
Carnitine Palmitoyl Transferase 2 Deficiency
Bezafibrate Trial in CPT2 Deficiency
The purpose of this study is to determine whether bezafibrate is effective in the treatment of the muscular adult form of carnitine palmitoyltransferase 2 deficiency
- Trial name
- NCT00336167
- Testing
- bezafibrate (drug)
- Where
- France
- Volunteers
- 12 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Very Long-chain Acyl-CoA Dehydrogenase Deficiency, Trifunctional Protein Deficiency
High Protein Diet in Patients With Long-chain Fatty Acid Oxidation Disorders
The study also determines if eating a diet higher in protein alters body composition, energy balance and metabolic control among patients with a long-chain fatty acid oxidation disorder.
- Conditions
- Very Long-chain Acyl-CoA Dehydrogenase Deficiency, Trifunctional Protein Deficiency, Carnitine Palmitoyltransferase 2 Deficiency, Long-chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency
- Trial name
- NCT01494051
- Testing
- Diet counseling
- Volunteers
- 13 people
- Sponsor
- Oregon Health and Science University
HIV Infections, Hyperlipidemia
Effects of Mixed Exercise Regime and L-Carnitine Supplementation in HIV Patients on HAART
HIV patients treated with Highly Active AntiRetroviral Therapy (HAART) show significant metabolic symptoms, such as lipodystrophy, dyslipidemia, and insulin resistance.
- Conditions
- HIV Infections, Hyperlipidemia, Exercise
- Trial name
- HIV (NCT00572429)
- Testing
- l-carnitine
- Where
- United States
- Sponsor
- University of California, Davis