Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
MONDO:0018820Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome is a rare, genetic, neurodegenerative disease characterized by episodic metabolic encephalomyopathic crises (of variable frequency and severity which are frequently precipitated by an acute illness) which manifest with profound muscle weakness, ataxia, seizures, cardiac arrhythmias, rhabdomyolysis with myoglobinuria, elevated plasma creatine kinase, hypoglycemia, lactic acidosis, increased acylcarnitines and a disorientated or comatose state. Global developmental delay, intellectual disability and cortical, pyramidal and cerebellar signs develop with subsequent progressive neurodegeneration causing loss of expressive language and varying degrees of cerebral atrophy.
Also known as: MECRCN, TANGO2 Deficiency Disorder, TANGO2 deficiency, transport and golgi organisation protein 2 (TANGO2) deficiency, transport and golgi organization protein 2 (TANGO2) deficiency
14 clinical trials for this condition and its sub-types.
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3D-Printed fork handles could help dementia patients eat on their own
Symptom relief Recruiting nowThis study tests whether custom 3D-printed cutlery handles can help people with neurodegenerative diseases eat more independently. 75 patients in rehabilitation care will try handles in different sizes, designed to fit their grip. Researchers will measure changes in eating abilit…
Phase: NA • Sponsor: Centre Hospitalier Intercommunal de Toulon La Seyne sur Mer • Aim: Symptom relief
Last updated Jun 27, 2026 14:00 UTC
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Brain scans and tests aim to unlock secrets of cognitive deficits after injury
Knowledge-focused Recruiting nowThis study looks at people with brain damage from strokes, tumors, or other conditions to understand why they have specific thinking problems. Researchers will use brain scans and cognitive tests to link brain areas to deficits. The goal is to learn more about how the brain works…
Phase: NA • Sponsor: University Hospital, Caen • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:06 UTC
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NIH launches data repository to fuel future research on rare nerve and muscle diseases
Knowledge-focused Recruiting nowThis study gathers medical information from 200 adults with possible nerve, muscle, or autonomic nervous system disorders who are not already in other NIH studies. Participants undergo standard tests like nerve conduction studies, EMG, and physical exams. The data is stored anony…
Sponsor: National Institute of Neurological Disorders and Stroke (NINDS) • Aim: Knowledge-focused
Last updated Jun 27, 2026 11:00 UTC
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Scientists build a 'Cognitive Atlas' for mental and neurological illnesses
Knowledge-focused Recruiting nowThis study is looking at how people with conditions like schizophrenia, bipolar disorder, depression, and neurological diseases (such as Alzheimer's or stroke) perform on computer-based thinking tests. The goal is to create a detailed map of cognitive strengths and weaknesses acr…
Phase: NA • Sponsor: Centre Hospitalier St Anne • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:05 UTC
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Thick liquids might help people with swallowing problems take pills safely
Knowledge-focused Recruiting nowThis study looks at whether using a swallow gel or a semi-solid vehicle can help people with neurological conditions swallow pills more easily and safely. Researchers will observe 500 participants, including patients with swallowing disorders and healthy volunteers, as they swall…
Sponsor: Heinrich-Heine University, Duesseldorf • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:00 UTC
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Scientists launch major study to unravel rare genetic disorder
Knowledge-focused Recruiting nowThis study aims to collect medical information and biological samples from 300 people with TANGO2-related disorder, a rare genetic condition. By tracking health events like metabolic and cardiac crises over time, researchers hope to better understand the disease course. The goal …
Sponsor: Baylor College of Medicine • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:52 UTC