Use of Ravicti™ in Patients With MCAD Deficiency With the 985A>G (K304E) Mutation
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ClinicalTrials.gov Identifier: NCT01881984 |
Recruitment Status :
Completed
First Posted : June 20, 2013
Results First Posted : July 11, 2017
Last Update Posted : September 25, 2017
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Condition or disease | Intervention/treatment | Phase |
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Medium-chain Acyl-CoA Dehydrogenase (MCAD) Deficiency | Drug: Ravicti | Phase 1 |
Participation in the study will require one overnight admission and three outpatient visits at the Clinical and Translational Research Center at Children's Hospital of Pittsburgh of UPMC (also called the PCTRC). The total length of the study is 7 weeks.
Subjects will have blood work and an intravenous access line (IV) placed for several blood draws during the visit. Subjects will begin fasting at 8pm during the admission, which means they may consume only non-caloric fluids (water, unsweetened black coffee or tea, or sugar-free beverages). The next morning, fasting blood work will be obtained. The subject can then eat breakfast and will receive the study drug, Ravicti. The total time of fasting will be 12 hours.
Dosing for this study will begin at 2 grams/m2/day, which is about one-fifth (1/5) the dose used for other disorders. The reason for starting the dose lower in MCAD patients is that Ravicti is metabolized by the MCAD enzyme. Following the initial dose, blood will be drawn from the IV every two hours for 8 hours. These blood studies will check the levels of Ravicti in the subject's blood and monitor how the subject's body metabolizes them. The subject will be discharged 8 hours after drug administration. Following discharge, the subject will take Ravicti every day for two weeks.
Visit 2: After two weeks at a dose of 2 grams/m2/day, the subject will fast after 8 PM, and will come to the PCTRC the following morning to have an IV placed and blood draws. If the subject's blood work from the first visit shows that there is no concern, the subject's dose will be increased to 4 grams/m2/day. The subject will receive the first dose at this level in the PCTRC with breakfast, and blood samples will be collected from the IV every 2 hours for the next 8 hours. The subject will continue on this dose for two weeks.
Visit 3: After two weeks at a dose of 4 grams/m2/day, the subject will fast after 8 PM, and will come to the PCTRC the following morning to have an IV placed and blood draws. If the subject's blood work from the previous visit shows that there is no concern, the subject's dose will be increased to 6 grams/m2/day. The subject will receive the first dose at this level in the PCTRC with breakfast, and blood samples will be collected from the IV every 2 hours for the next 8 hours. The subject will continue on this dose for two weeks.
Visit 4 (final): After two weeks at a dose of 6 grams/m2/day, the subject will fast after 8 PM, and will come to the CTRC the following morning to have one blood draw. The subject will return any unused Ravicti, and their study participation will be completed.
All study procedures will be done at no cost to the subjects.
Study Type : | Interventional (Clinical Trial) |
Actual Enrollment : | 4 participants |
Allocation: | N/A |
Intervention Model: | Single Group Assignment |
Masking: | None (Open Label) |
Primary Purpose: | Treatment |
Official Title: | 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 |
Study Start Date : | June 2013 |
Actual Primary Completion Date : | February 2016 |
Actual Study Completion Date : | February 2016 |

Arm | Intervention/treatment |
---|---|
Experimental: Ravicti
Open Label Study
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Drug: Ravicti
Open-label design comparing Ravicti at doses of 2, 4, and 6 grams/m2/day
Other Name: glycerol phenylbutyrate |
- Metabolic Stress [ Time Frame: 7 weeks ]Changes in the assessments of metabolic stress pre- and post-dosing with Ravicti will be the main outcome variable.
- Pharmacokinetic (pK)Analysis [ Time Frame: 7 weeks ]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.

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Ages Eligible for Study: | 18 Years and older (Adult, Older Adult) |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | No |
Inclusion Criteria:
- confirmation of a diagnosis of MCAD deficiency
- at least one copy of 985A>G MCAD mutation
- ability to follow protocol
Exclusion Criteria:
- positive pregnancy test
- currently breastfeeding
- currently taking any medication for which there is a potential drug interaction with Ravicti, includes corticosteroids, valproic acid, haloperidol, and probenecid
- liver or kidney insufficiency

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01881984
United States, Pennsylvania | |
Children's Hospital of Pittsburgh of UPMC | |
Pittsburgh, Pennsylvania, United States, 15224 |
Principal Investigator: | Gerard Vockley, MD, PhD | University of Pittsburgh/Children's Hospital of Pittsburgh of UPMC |
Publications:
Responsible Party: | Gerard Vockley, MD, PhD, Professor of Pediatrics/Human Genetics, University of Pittsburgh |
ClinicalTrials.gov Identifier: | NCT01881984 |
Other Study ID Numbers: |
PRO13050530 |
First Posted: | June 20, 2013 Key Record Dates |
Results First Posted: | July 11, 2017 |
Last Update Posted: | September 25, 2017 |
Last Verified: | September 2017 |
Medium-chain acyl-CoA dehydrogenase deficiency MCAD deficiency MCADD ACADM deficiency MCADH deficiency |
985A>G mutation K304E mutation Ravicti glycerol phenylbutyrate |
Glycerol Cryoprotective Agents Protective Agents Physiological Effects of Drugs |