Mitochondrial trifunctional protein deficiency
MONDO:0012172Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy..
Also known as: TFP deficiency, TFPD, mitochondrial trifunctional protein deficiency, MTPD, mitochondrial trifunctional PROTEIN deficiency, trifunctional Protein deficiency, trifunctional Protein deficiency with myopathy and neuropathy
21 clinical trials for this condition and its sub-types.
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Broader categories
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New study tracks Long-Term safety of rare disease treatment
Disease control OngoingThis study follows 150 people with long-chain fatty acid oxidation disorders (LC-FAOD) to check the long-term safety of their treatment, including for pregnant women and their babies. Researchers track serious side effects and disease complications. The goal is to better understa…
Sponsor: Ultragenyx Pharmaceutical Inc • Aim: Disease control
Last updated Jun 27, 2026 13:00 UTC
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Last chance access: vatiquinone for mitochondrial disease patients
Disease control NO_LONGER_AVAILABLEThis program offered vatiquinone, an experimental liquid medication, to patients with inherited mitochondrial diseases like Leigh syndrome who had already completed a previous safety study. The goal was to continue treatment for those who might benefit, but enrollment is now clos…
Sponsor: Medical University of South Carolina • Aim: Disease control
Last updated Jun 27, 2026 12:05 UTC
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Newborn screening study aims to catch rare diseases at birth
Diagnosis OngoingThis study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…
Sponsor: RTI International • Aim: Diagnosis
Last updated Jul 03, 2026 00:00 UTC
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New study tests workplace coaching to keep Parkinson's patients on the job
Symptom relief OngoingThis study tests a personalized workplace intervention for 124 Dutch workers with Parkinson's disease, cerebellar ataxia, hereditary spastic paraparesis, or slowly progressive neuromuscular/mitochondrial disorders. A trained facilitator helps employees and their managers identify…
Phase: NA • Sponsor: Radboud University Medical Center • Aim: Symptom relief
Last updated Aug 16, 2026 00:00 UTC
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MRI scans could unlock secrets of rare muscle disease
Knowledge-focused ENROLLING_BY_INVITATIONThis study uses special MRI scans to measure how well muscles produce energy in people with mitochondrial disease. Researchers hope to learn more about the condition and develop a new tool to help diagnose and track it. The study involves 230 participants aged 7 to 75 with suspec…
Sponsor: Children's Hospital of Philadelphia • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:11 UTC
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Massive gene hunt launched for mysterious mitochondrial diseases
Knowledge-focused ENROLLING_BY_INVITATIONThis study aims to discover new genetic mutations that cause mitochondrial disorders by analyzing tissue samples from up to 6,900 participants. It includes people with suspected or known mitochondrial diseases, such as MELAS or Leigh's Disease, who lack a genetic diagnosis. The r…
Sponsor: Columbia University • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:09 UTC