Trial of Dichloroacetate in Pyruvate Dehydrogenase Complex Deficiency:



Status:Recruiting
Healthy:No
Age Range:Any - 17
Updated:2/17/2019
Start Date:October 1, 2017
End Date:March 30, 2022
Contact:Peter W Stacpoole, PhD, MD
Email:pws@ufl.edu
Phone:352-273-9023

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Phase 3 Trial of Dichloroacetate in Pyruvate Dehydrogenase Complex Deficiency:

The objective of this research study is to conduct a pivotal phase 3 trial of treatment with
the investigational drug dichloroacetate (DCA) in young children with deficiency of the
pyruvate dehydrogenase complex (PDC). PDC deficiency (PDCD) is the most common cause of
congenital lactic acidosis and is a frequently fatal metabolic disease of childhood for which
no proven treatment exists. The investigators predict that DCA represents targeted potential
therapy for PDCD because of its ability to increase both the catalytic activity and stability
of the enzyme complex. The conclusions of numerous laboratory and clinical investigations are
consistent with this postulate and have led to the designation of DCA as an Orphan Product
for congenital lactic acidosis by the Food and Drug Administration.

A novel Observer reported outcome (ObsRO) survey that is completed by study participant's
parent/caregiver, is the efficacy outcome measure.

Funding Source - FDA OOPD

Clinical sites will be established across the United States for study participation. The
investigators will conduct a randomized, placebo-controlled, double-blind trial of 24
children, aged 6 months through 17 years, with confirmed diagnosis of PDC Deficiency.

Study participants complete Screening procedures at Visit 1 to confirm eligibility for study
participation. Screening study procedures include medical history review and physical exam;
blood and urine collection, and collection of cheek (buccal) cells; training to complete the
ObsRO daily survey. The ObsRO is a survey developed for this study to evaluate how study
participants are feeling and functioning in the home setting. The ObsRO survey is completed
by the study participant parent/caregiver every day during both treatment periods (study
medication and placebo) of study participation (approximately 9 months). During treatment
period 1 and 2 (4 months of study medication and 5 months of placebo), the study participant
will communicate with the study team at least 2 times per month to evaluate the child's level
of health, and compliance with daily survey completion and taking the study medication.

Study participants complete Baseline study procedures at Visit 2 prior to randomization to
treatment. Baseline study procedures include, medical history review and physical exam; blood
and urine collection; 3 day food record. The study medication will be shipped to the study
participants home each month of study participation.

Safety labs are completed during each randomization period (month 3 and month 5). The safety
labs can be completed at the clinical trial site, or at any standard clinical laboratory.

Study participants will complete a study visit after each randomization period (month 5 and
9) to complete study assessments at the same clinical site. Visit study procedures include
medical history review and physical exam; blood and urine collection; 3 day food record.

Study participants who complete both treatment periods and did not sustain serious adverse
events attributable to DCA, will be offered continued access to investigational medication
DCA through an open-label access program until the study concludes in June 2020. Study
participants must sign a separate consent form for participation in the open-label access
phase of this clinical trial and must complete a study visit every 6 months at the same
clinical site for study assessments that include medical history review and physical exam,
blood and urine collection. The study medication will continue to be mailed to the study
participant during the open-label phase at the same dose received during the blinded phase of
the study.

Study participants will be stratified according to their predicted rate of DCA metabolism and
clearance, based on genotyping prior to randomization (completed at visit 1 buccal cell
collection).

Study participants will continue whatever diet and other "standard of care" is deemed
appropriate by their local expert clinicians.

Inclusion Criteria:

- Age 6 m through 17 y

- Presence of characteristic clinical or metabolic features of pyruvate dehydrogenase
complex deficiency (PDCD) and

- Presence of a known pathogenic mutation of a gene that is specifically associated with
PDCD.

Exclusion Criteria:

A genetic mitochondrial disease other than those stipulated under inclusion criteria
Primary disorders of amino acid metabolism; primary disorders of fatty acid oxidation
Secondary lactic acidosis due to impaired oxygenation or circulation (cardiomyopathy or
congenital heart defect) Renal insufficiency (defined as: requires chronic dialysis or
serum creatinine ≥ 1.2 mg/dl; creatinine clearance <60 ml/min Primary hepatic disease
unrelated to PDCD Pregnancy or breast feeding
We found this trial at
9
sites
Gainesville, Florida 32610
(352) 392-3261
Phone: 352-273-9014
University of Florida The University of Florida (UF) is a major, public, comprehensive, land-grant, research...
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1201 W La Veta Ave
Orange, California 92868
(714) 997-3000
Phone: 888-770-2462
Children's Hospital of Orange County For more than 45 years, CHOC Children’s has been steadfastly...
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South 34th Street
Philadelphia, Pennsylvania 19104
 215-590-1000
Phone: 215-590-4564
Children's Hospital of Philadelphia Since its start in 1855 as the nation's first hospital devoted...
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Philadelphia, PA
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201 Presidents Circle
Salt Lake City, Utah 84108
801) 581-7200
Phone: 801-585-2457
University of Utah Research is a major component in the life of the U benefiting...
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Cleveland, Ohio 44012
Phone: 215-844-3936
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3414 Fifth Avenue
Pittsburgh, Pennsylvania 15213
Phone: 412-692-5070
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4800 Sand Point Way NE
Seattle, Washington 98105
(206) 987-2000
Phone: 206-987-2078
Seattle Children's Hospital Seattle Children’s Hospital specializes in meeting the unique physical, emotional and developmental...
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450 Serra Mall
Stanford, California 94305
(650) 723-2300
Phone: 650-498-5798
Stanford University Stanford University, located between San Francisco and San Jose in the heart of...
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111 Michigan Ave NW
Washington, District of Columbia
(202) 476-5000
Phone: 202-476-6230
Childrens National Medical Center As the nation’s children’s hospital, the mission of Children’s National Medical...
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