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Report for Clinical Trial NCT01881984

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

Use of Glycerol Phenylbutyrate (Ravicti™) as a Chaperone to Stabilize Enzyme in Patients With MCAD Deficiency Due to the Common MCAD 985A>G (K304E) Mutation

This is a medical research study to test a medication in adult patients with a disease called medium-chain acyl-CoA dehydrogenase (MCAD) deficiency caused by at least one copy of the 985A>G mutation. The medication is glycerol phenylbutyrate, called Ravicti, which is currently FDA approved for the treatment of urea cycle disorders. Previous research suggests that Ravicti may also be effective in the treatment MCAD deficiency. This study will investigate the safety and efficacy (how well it works) of Ravicti in patients with MCAD deficiency caused by having at least one copy of the 985A>G mutation.

NCT01881984 Medium-chain Acyl-CoA Dehydrogenase (MCAD) Deficiency

1 Interventions

Name: Ravicti

Description: Open-label design comparing Ravicti at doses of 2, 4, and 6 grams/m2/day
Type: Drug
Group Labels: 1

Ravicti


Primary Outcomes

Description: Changes in the assessments of metabolic stress pre- and post-dosing with Ravicti will be the main outcome variable.

Measure: Metabolic Stress

Time: 7 weeks

Secondary Outcomes

Description: Results from the pharmacokinetic (pK)analysis (the rate of conversion of the phenylbutyrate to phenylacetate) will also be reviewed to assess for changes pre- and post-dosing with Ravicti as well as changes in these levels at the different doses of Ravicti.

Measure: Pharmacokinetic (pK)Analysis

Time: 7 weeks

Purpose: Treatment

Allocation: N/A

Single Group Assignment


There is one SNP

SNPs


1 K304E

Use of Glycerol Phenylbutyrate (Ravicti™) as a Chaperone to Stabilize Enzyme in Patients With MCAD Deficiency Due to the Common MCAD 985A>G (K304E) Mutation. --- K304E ---

Use of Ravicti™ in Patients With MCAD Deficiency With the 985A>G (K304E) Mutation This is a medical research study to test a medication in adult patients with a disease called medium-chain acyl-CoA dehydrogenase (MCAD) deficiency caused by at least one copy of the 985A>G mutation. --- K304E ---



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