Charcot-Marie-Tooth disease type 4K
MONDO:0014733SURF1-related Charcot-Marie-Tooth disease type 4 (CMT4K) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by childhood onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy of hands and feet, distal sensory impairment (vibration and pinprick) of lower limbs, lactic acidosis, areflexia and severely reduced motor nerve conduction velocities (25 m/s or less). Patients may also present kyphoscoliosis, nystagmus, hearing loss, cerebellar ataxia and/or brain MRI abnormalities (putaminal and periaqueductal lesions).
Also known as: CMT4K, Charcot-Marie-Tooth disease type 4 caused by mutation in SURF1, Charcot-Marie-Tooth disease type 4K, Charcot-Marie-Tooth disease, type 4k, SURF1 Charcot-Marie-Tooth disease type 4, SURF1-related CMT4, SURF1-related Charcot-Marie-Tooth disease type 4, SURF1-related severe demyelinating Charcot-Marie-Tooth disease
22 clinical trials for this condition and its sub-types, 0 tagged with Charcot-Marie-Tooth disease type 4K itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
Browse by category →-
Last chance access: vatiquinone for mitochondrial disease patients
Disease control Expanded access (ended)This 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
-
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…
Sponsor: Radboud University Medical Center • Aim: Symptom relief
Last updated Aug 16, 2026 00:00 UTC
-
MRI scans could unlock secrets of rare muscle disease
Knowledge-focused By invitation onlyThis 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
-
Massive gene hunt launched for mysterious mitochondrial diseases
Knowledge-focused By invitation onlyThis 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