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Results for “VLCAD Deficiency”

25 trials

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Showing 20 of 25 results

Not applicableStudy completedNCT00499070
What this trial is testing

Assessing Immune Function in Young Patients With Cytopenia That Did Not Respond to Treatment

Who this might be right for
Dyskeratosis CongenitaFanconi AnemiaMyelodysplastic Syndromes+2 more
University Hospital Freiburg 119
Not applicableEnrolling By InvitationNCT03655223
What this trial is testing

Early Check: Expanded Screening in Newborns

Who this might be right for
Spinal Muscular AtrophyFragile X SyndromeFragile X - Premutation+182 more
RTI International 30,000
Not applicableStudy completedNCT02517307
What this trial is testing

Fatty Acid Oxidation Defects and Insulin Sensitivity

Who this might be right for
Very Long-chain Acyl-CoA Dehydrogenase DeficiencyTrifunctional Protein DeficiencyLong-chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency+3 more
Oregon Health and Science University 41
Testing effectiveness (Phase 2)Study completedNCT00983788
What this trial is testing

Effect of Bezafibrate on Muscle Metabolism in Patients With Fatty Acid Oxidation Defects

Who this might be right for
Carnitine Palmitoyltransferase II DeficiencyVery Long Chain Acyl Coa Dehydrogenase Deficiency
Rigshospitalet, Denmark 12
Not applicableActive Not RecruitingNCT04632953
What this trial is testing

Long-Chain Fatty Acid Oxidation Disorders In-Clinic Disease Monitoring Program

Who this might be right for
Long-chain Fatty Acid Oxidation Disorders (LC-FAOD)
Ultragenyx Pharmaceutical Inc 150
Testing effectiveness (Phase 2)Study completedNCT01379625
What this trial is testing

Study of Triheptanoin for Treatment of Long-Chain Fatty Acid Oxidation Disorder

Who this might be right for
Very Long-chain acylCoA Dehydrogenase (VLCAD) DeficiencyCarnitine Palmitoyltransferase 2 (CPT2) DeficiencyMitochondrial Trifunctional Protein (TFP) Deficiency+1 more
Oregon Health and Science University 32
Testing effectiveness (Phase 2)Looking for participantsNCT06017869
What this trial is testing

Evaluate the Safety and Therapeutic Effects of a Single Intravenous Infusion (IV) of Autologous CD34+ Cells Enriched With Allogenic Placenta-derived Mitochondria in Patients With a Diagnosis of Pearson Syndrome (PS)

Who this might be right for
Mitochondrial DiseasesPearson Syndrome
Minovia Therapeutics Ltd. 6
Not applicableEnded earlyNCT04812106
What this trial is testing

Long-Chain Fatty Acid Oxidation Disorders Online Disease Monitoring Program

Who this might be right for
Long-chain Fatty Acid Oxidation Disorders (LC-FAOD)
Ultragenyx Pharmaceutical Inc 8
Not applicableUnknownNCT05910151
What this trial is testing

Selective Screening of Children for Hereditary Metabolic Diseases by Tandem Mass Spectrometry in Kazakhstan

Who this might be right for
Propionic/Methylmalonic AcidemiasMaple Syrup Urine DiseaseCitrullinemia+26 more
West Kazakhstan Medical University 2,250
Large-scale testing (Phase 3)Active Not RecruitingNCT05933200
What this trial is testing

Determine the Effect of Triheptanoin Compared With Even-Chain MCT on MCEs in Pediatric Patients With LC-FAOD

Who this might be right for
Long-chain Fatty Acid Oxidation Disorders (LC-FAOD)
Ultragenyx Pharmaceutical Inc 69
Testing effectiveness (Phase 2)Study completedNCT01494051
What this trial is testing

High Protein Diet in Patients With Long-chain Fatty Acid Oxidation Disorders

Who this might be right for
Very Long-chain Acyl-CoA Dehydrogenase DeficiencyTrifunctional Protein DeficiencyCarnitine Palmitoyltransferase 2 Deficiency+1 more
Oregon Health and Science University 13
Not applicableLooking for participantsNCT05554835
What this trial is testing

Global Registry and Natural History Study for Mitochondrial Disorders

Who this might be right for
Mitochondrial DiseasesKearns-Sayre SyndromeMIDD+15 more
LMU Klinikum 6,000
Not applicableLooking for participantsNCT04602325
What this trial is testing

Systemic Biomarkers of Brain Injury From Hyperammonemia

Who this might be right for
Urea Cycle DisorderOrganic AcidemiaMaple Syrup Urine Disease+3 more
Children's National Research Institute 24
Testing effectiveness (Phase 2)Study completedNCT03384420
What this trial is testing

Evaluate the Safety and Therapeutic Effects of Transplantation of MNV-BM-BLD in Pediatric Patients With Pearson Syndrome

Who this might be right for
Mitochondrial DiseasesPearson Syndrome
Minovia Therapeutics Ltd. 7
Not applicableAvailableNCT03773770
What this trial is testing

Expanded Access to Triheptanoin

Who this might be right for
Long Chain Fatty Acid Oxidation Disorders
Ultragenyx Pharmaceutical Inc
Not applicableUnknownNCT05029843
What this trial is testing

SLSMDS Natural History Study

Who this might be right for
Pearson SyndromeSingle Large Scale Mitochondrial DNA Deletion Syndromes (SLSMDS)
The Champ Foundation 30
Not applicableStudy completedNCT03531554
What this trial is testing

Acute Nutritional Ketosis in VLCAD Deficiency

Who this might be right for
VLCAD DeficiencyFatty Acid Oxidation Defects
University Medical Center Groningen 5
Not applicableStudy completedNCT00328159
What this trial is testing

Nutritional Therapy of the Deficits of Oxidation Mitochondrial of the Fatty Acids

Who this might be right for
Inborn Errors of Metabolism
Assistance Publique - Hôpitaux de Paris 20
Testing effectiveness (Phase 2)Study completedNCT01886378
What this trial is testing

UX007 (Triheptanoin) in Participants With Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD)

Who this might be right for
Long-chain Fatty Acid Oxidation Disorders (LC-FAOD)Carnitine Palmitoyltransferase (CPT II) DeficiencyVery Long Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency+2 more
Ultragenyx Pharmaceutical Inc 29
Very early researchStudy completedNCT05411835
What this trial is testing

Oral Ketones and Exercise Among Patients With Long-chain Fatty Acid Oxidation Disorders

Who this might be right for
Long-chain 3-hydroxyacyl-CoA Dehydrogenase DeficiencyCarnitine Palmitoyltransferase Deficiency 2Very Long Chain Acyl Coa Dehydrogenase Deficiency+1 more
Oregon Health and Science University 5
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