Behr syndrome
MONDO:0008858A disorder characterized by early-onset optic atrophy along with neurological features, including ataxia, spasticity, and intellectual disability. Other signs and symptoms may be present and vary from person to person. This condition is caused by mutations in the OPA1 gene. It is inherited in an autosomal recessive manner. Treatment depends on the specific signs and symptoms seen in the patient.
Also known as: Behr syndrome, BEHRS, optic atrophy in early childhood, associated with ataxia, spasticity, intellectual disability, and posterior column sensory loss, optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss, optic atrophy, infantile hereditary, Behr complicated form of, optic atrophy, infantile hereditary, with neurologic abnormalities
13 clinical trials for this condition and its sub-types.
Follow this condition to get notified about new trialsBroader categories
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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
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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…
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 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
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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