SNPMiner Trials by Shray Alag

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Report for Mutation A997T

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials

1 Effects of Mexiletine on Colonic Transit in a Patient With a Known SCN5A A997T Mutation

To understand if Mexiletine will restores normal colonic motility in a patient with irritable bowel syndrome - constipation (IBS-C) and a genetic mutation in SCN5A.

NCT01717404 IBS Drug: Mexiletine

Effects of Mexiletine on Colonic Transit in a Patient With a Known SCN5A A997T Mutation. --- A997T ---

18] The participant will ingest a Tc-99m labeled sulfur colloid in egg to be used as a stomach marker and ln-111 chloride bound to activated charcoal enclosed in a methacrylate-coated capsule to measure colonic transit.. Inclusion Criteria: - Established IBS diagnosis with a known A997T mutation in NaV1.5T --- A997T ---

Patient is currently not on any of these medications Inclusion Criteria: - Established IBS diagnosis with a known A997T mutation in NaV1.5T --- A997T ---

Primary Outcomes

Description: Colon transit will be measured using validated scintigraphy methods conducted in our Clinical Research Unit (CRU).[17, 18] The participant will ingest a Tc-99m labeled sulfur colloid in egg to be used as a stomach marker and ln-111 chloride bound to activated charcoal enclosed in a methacrylate-coated capsule to measure colonic transit.

Measure: change in the 48 hour Colon Transit

Time: Baseline to 10 days

HPO Nodes