Clinical trials: Trifunctional Protein (TFP) Deficiency
Long-chain Fatty Acid Oxidation Disorders (LC-FAOD)
Long-Chain Fatty Acid Oxidation Disorders Online Disease Monitoring Program
The objectives of this study are to characterize the disease impact, the disease management and resource utilization, and provide benefits to the LC-FAOD community, by use of a convenient online platform for participants (or…
- Trial name
- NCT04812106
- Testing
- No Intervention
- Where
- United States
- Volunteers
- 8 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
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
Peripheral Neuropathy, Mitochondrial Trifunctional Protein Deficiency
Vitamin E Treatment for Long-Chain 3-Hydroxyacyl Coenzyme A (CoA) Dehydrogenase (LCHAD) Associated Neuropathy
Purpose: People with a genetic defect in the ability to burn fat can also develop a problem with the nerves in their feet. The nerve problem, or neuropathy, can limit their ability to walk.
- Trial name
- NCT00840112
- Testing
- Vitamin E supplement
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- Oregon Health and Science University
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
Very Long-chain acylCoA Dehydrogenase (VLCAD) Deficiency, Carnitine Palmitoyltransferase 2 (CPT2) Deficiency
Study of Triheptanoin for Treatment of Long-Chain Fatty Acid Oxidation Disorder
Humans eat long-chain fat in their diet and use it for energy during exercise and during periods of fasting. Patients with long-chain fatty acid oxidation disorders cannot use dietary fat for energy.
- Conditions
- Very Long-chain acylCoA Dehydrogenase (VLCAD) Deficiency, Carnitine Palmitoyltransferase 2 (CPT2) Deficiency, Mitochondrial Trifunctional Protein (TFP) Deficiency, Long-chain 3 hydroxyacylCoA Dehydrogenase (LCHAD) Deficiency
- Trial name
- Triheptanoin (NCT01379625)
- Testing
- Triheptanoin
- Where
- 2 sites in United States
- Volunteers
- 32 people
- Sponsor
- Oregon Health and Science University
Trifunctional Protein Deficiency
Fatty Acid Oxidation Disorders & Body Weight Regulation Grant
Several hormones involved in body weight regulation increase the subject's ability to burn fat for energy. The purpose of this study is to investigate how burning fat for energy may affect those hormones and body weight in…
- Trial name
- NCT00654004
- Where
- United States
- Volunteers
- 26 people, healthy volunteers welcome
- Sponsor
- Oregon Health and Science University
Long-chain Fatty Acid Oxidation Disorders (LC-FAOD), Carnitine Palmitoyltransferase (CPT II) Deficiency
A Study of UX007 (Triheptanoin) in Participants With Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD)
The primary objective of the study was to evaluate the impact of UX007 on acute clinical pathophysiology associated with LC-FAOD following 24 weeks of treatment.
- Conditions
- Long-chain Fatty Acid Oxidation Disorders (LC-FAOD), Carnitine Palmitoyltransferase (CPT II) Deficiency, Very Long Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency, Longchain 3-hydroxy-acyl-CoA Dehydrogenase (LCHAD) Deficiency
- Trial name
- NCT01886378
- Testing
- UX007
- Where
- 10 sites in United States, United Kingdom
- Volunteers
- 29 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
Long-chain Fatty Acid Oxidation Disorders (LC-FAOD)
Long-Chain Fatty Acid Oxidation Disorders In-Clinic Disease Monitoring Program
The primary objective of this study is to assess the long-term safety, including pregnancy, infant, and lactation outcomes, of patients with LC-FAOD who are enrolled in the DMP.
- Trial name
- NCT04632953
- Testing
- No Intervention
- Where
- 16 sites in United States, Canada
- Volunteers
- 150 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
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
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