Disease & disorder

TOR1AIP1-related myopathy

MONDO:0100582

A congenital myopathy in which the cause of the disease is pathogenic variation in the TOR1AIP1 gene. May include fatigable muscle weakness resulting from impaired transmission at the neuromuscular synapse.

Clinical trials0
Recruiting0
Drug concepts studied0
Synonyms3

Research intelligence

Directly mapped studies only · unique clinical trials

Current registry observations. Phase counts may overlap. Study start dates are not registry registration dates. Investigational interventions are not approved-treatment recommendations.

Medications under investigation

Verified disease and drug mappings that co-occur within the same study; not evidence of effectiveness.

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MONDO disease family

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Recruiting studies by city

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Trial status

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Investigated drug interventions

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Drugs being studied

Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.