NCT01881984

Brief Summary

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.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
4

participants targeted

Target at below P25 for phase_1

Timeline
Completed

Started Jun 2013

Typical duration for phase_1

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

June 1, 2013

Completed
12 days until next milestone

First Submitted

Initial submission to the registry

June 13, 2013

Completed
7 days until next milestone

First Posted

Study publicly available on registry

June 20, 2013

Completed
2.6 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

February 1, 2016

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

February 1, 2016

Completed
1.4 years until next milestone

Results Posted

Study results publicly available

July 11, 2017

Completed
Last Updated

September 25, 2017

Status Verified

September 1, 2017

Enrollment Period

2.7 years

First QC Date

June 13, 2013

Results QC Date

February 14, 2017

Last Update Submit

September 22, 2017

Conditions

Medium-chain Acyl-CoA Dehydrogenase (MCAD) Deficiency

Keywords

Medium-chain acyl-CoA dehydrogenase deficiencyMCAD deficiencyMCADDACADM deficiencyMCADH deficiency985A>G mutationK304E mutationRavictiglycerol phenylbutyrate

Outcome Measures

Primary Outcomes (1)

  • Metabolic Stress

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

    7 weeks

Secondary Outcomes (1)

  • Pharmacokinetic (pK)Analysis

    7 weeks

Study Arms (1)

Ravicti

EXPERIMENTAL

Open Label Study

Drug: Ravicti

Interventions

RavictiDRUG

Open-label design comparing Ravicti at doses of 2, 4, and 6 grams/m2/day

Also known as: glycerol phenylbutyrate
Ravicti

Eligibility Criteria

Age18 Years+
Sexall
Healthy VolunteersNo
Age GroupsAdult (18-64), Older Adult (65+)

You may qualify if:

  • confirmation of a diagnosis of MCAD deficiency
  • at least one copy of 985A\>G MCAD mutation
  • ability to follow protocol

You may not qualify if:

  • 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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Children's Hospital of Pittsburgh of UPMC

Pittsburgh, Pennsylvania, 15224, United States

Location

Related Publications (1)

  • Kormanik K, Kang H, Cuebas D, Vockley J, Mohsen AW. Evidence for involvement of medium chain acyl-CoA dehydrogenase in the metabolism of phenylbutyrate. Mol Genet Metab. 2012 Dec;107(4):684-9. doi: 10.1016/j.ymgme.2012.10.009. Epub 2012 Oct 18.

    PMID: 23141465BACKGROUND

Related Links

MeSH Terms

Conditions

Medium chain acyl CoA dehydrogenase deficiency

Interventions

glycerol phenylbutyrate

Limitations and Caveats

The purpose of this phase 1 trial was to establish a safe dose for treatment of patients with MCAD deficiency due to the common mutations, and to evaluate biomarkers of fatty acid metabolism in treated patients vs their pretreatment values.

Results Point of Contact

Title
Dr. Gerard Vockley
Organization
University of Pittsburgh
gerard.vockley@chp.edu
412-692-7746

Study Officials

  • Gerard Vockley, MD, PhD

    University of Pittsburgh/Children's Hospital of Pittsburgh of UPMC

    PRINCIPAL INVESTIGATOR

Publication Agreements

PI is Sponsor Employee
Yes

Study Design

Study Type
interventional
Phase
phase 1
Allocation
NA
Masking
NONE
Purpose
TREATMENT
Intervention Model
SINGLE GROUP
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
Professor of Pediatrics/Human Genetics

Study Record Dates

First Submitted

June 13, 2013

First Posted

June 20, 2013

Study Start

June 1, 2013

Primary Completion

February 1, 2016

Study Completion

February 1, 2016

Last Updated

September 25, 2017

Results First Posted

July 11, 2017

Record last verified: 2017-09

Locations

US(1)