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NCT01780168
- Conditions
- Brain Diseases, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, +14 more
- Locations
-
- National Institutes of Health Clinical Center Bethesda, Maryland, United States
NCT06887777
- Conditions
- Brain Diseases, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, +20 more
- Locations
-
- Hôpital Universitaire Necker - Enfants Malades Paris, France
Recruiting
Triheptanoin for Children With Primary-Specific Pyruvate Dehydrogenase Complex (PDC) Deficiency
NCT06340685
- Conditions
- Brain Diseases, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, +18 more
- Locations
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- UPMC Children's Hospital of Pittsburgh Pittsburgh, Pennsylvania, United States
Recruiting
Natural History and Advanced Genetic Study of Pyruvate Dehydrogenase Complex Deficiencies
NCT03056794
- Conditions
- Brain Diseases, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, +17 more
- Locations
-
- University of Pittsburgh Pittsburgh, Pennsylvania, United States
Recruiting
North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)
NCT01694940
- Conditions
- Abnormalities, Multiple, Acid-Base Imbalance, Acidosis, +86 more
- Locations
-
- University of California San Diego San Diego, California, United States
- Lucile Packard Children's Hospital Stanford, California, United States
- Children's Hospital of Colorado Aurora, Colorado, United States
- Children's National Medical Center Washington D.C., District of Columbia, United States
Recruiting
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
NCT01793168
- Conditions
- 1p36 Deletion Syndrome, 3-Methylglutaconic Aciduria, Type V, 4p Deletion Syndrome, Non-Wolf-Hirschhorn Syndrome, +698 more
- Locations
-
- Sanford Health Sioux Falls, South Dakota, United States
- Online Patient Enrollment System Sydney, Australia
NCT06967831
- Conditions
- Brain Diseases, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, +14 more
- Locations
-
- Universitätsklinikum Düsseldorf Düsseldorf, North Rhine-Westphalia, Germany
- Charite - Universtaetsmedizin Berlin Berlin, State of Berlin, Germany
NCT03137355
- Conditions
- Brain Diseases, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, +16 more
- Locations
-
- The University of Texas Health Science Center at Houston Houston, Texas, United States
Enrolling by Invitation
Sirolimus for Leigh Syndrome
NCT06843811
- Conditions
- Brain Diseases, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, +12 more
- Locations
-
- Children's Hospital of Philadelphia Philadelphia, Pennsylvania, United States
Enrolling by Invitation
Tissue Sample Study for Mitochondrial Disorders
NCT01803906
- Conditions
- Brain Diseases, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, +30 more
- Locations
-
- Columbia University New York, United States
Not Yet Recruiting
A Dose-ranging Study of TTI-0102 in Adults and Children With Leigh Syndrome Spectrum (LSS)
NCT06990984
- Conditions
- Brain Diseases, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, +12 more
- Locations
-
Not specified
NCT05218655
- Conditions
- Autoimmune Diseases, Autoimmune Diseases of the Nervous System, Brain Diseases, +36 more
- Locations
-
- University of California, San Diego Altman Clinical and Translational Research Institute La Jolla, California, United States
- Stanford University Stanford, California, United States
- Yale Medicine New Haven, Connecticut, United States
- Children's National Washington D.C., District of Columbia, United States
NCT02023866
- Conditions
- Brain Diseases, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, +40 more
- Locations
-
- University of California at San Diego (UCSD) San Diego, California, United States
- Stanford University Stanford, California, United States
- Akron Children's Hospital Akron, Ohio, United States
- Baylor College of Medicine Houston, Texas, United States
NCT02352896
- Conditions
- Brain Diseases, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, +12 more
- Locations
-
- Gregory Enns Stanford University, California, United States
- Akron Children's Hospital Akron, Ohio, United States
- Baylor College of Medicine Houston, Texas, United States
- Seattle Children's Hospital Seattle, Washington, United States
NCT02544217
- Conditions
- Brain Diseases, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, +26 more
- Locations
-
- Drug Research Unit Ghent Ghent, Belgium
Completed
Use of Phenylbutyrate Therapy for Patients With Pyruvate Dehydrogenase Complex Deficiency.
NCT03734263
- Conditions
- Brain Diseases, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, +18 more
- Locations
-
- Federico II University Naples, Italy
NCT01721733
- Conditions
- Brain Diseases, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, +12 more
- Locations
-
- Stanford University Palo Alto, California, United States
- Akron Children's Hospital Akron, Ohio, United States
- Baylor College of Medicine Houston, Texas, United States
- Seattle Children's Hospital Seattle, Washington, United States
Active, Not Recruiting
Trial of Dichloroacetate in Pyruvate Dehydrogenase Complex Deficiency:
NCT02616484
- Conditions
- Brain Diseases, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, +18 more
- Locations
-
- Children's Hospital of Orange County Orange, California, United States
- Stanford University Stanford, California, United States
- Children's National Medical Center Washington D.C., District of Columbia, United States
- University of Florida Gainesville, Florida, United States