Tuberous sclerosis 1
MONDO:0008612An autosomal dominant syndrome caused by pathogenic variants in the TSC1 gene, characterized by the growth of hamartomas in multiple organs, including the brain, skin, kidneys, heart, and lungs. Other clinical features include seizures, intellectual disability, and skin lesions.
Also known as: TSC1 tuberous sclerosis, TSC1-related tuberous sclerosis, tuberous sclerosis 1, tuberous sclerosis caused by mutation in TSC1, tuberous sclerosis type 1, tuberous sclerosis-1, TSC1, tuberose sclerosis
65 clinical trials for this condition and its sub-types, 33 tagged with Tuberous sclerosis 1 itself.
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New daily pill aims to tame stubborn seizures in tuberous sclerosis
Disease control Not yet recruitingThis study tests an oral drug, AV078, in people aged 12 and older with tuberous sclerosis complex (TSC) whose seizures are not controlled by standard medications. Participants are randomly assigned to receive AV078 or a placebo for 12 weeks. The goal is to see if AV078 safely red…
Phase 2 • Sponsor: Aeovian Pharmaceuticals, Inc. • Aim: Disease control
Last updated Jul 04, 2026 00:00 UTC
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New online tool aims to help families uncover hidden cancer risks
Knowledge-focused Not yet recruitingThis study tests whether a new online program can help families understand their inherited cancer risk and encourage relatives to get low-cost genetic testing. Researchers will enroll 400 adults who carry a cancer-related gene change and their family members. The goal is to see i…
Sponsor: Stanford University • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:33 UTC