Safety and Efficacy Study of EPI-743 in Children With Genetically Confirmed Leigh Syndrome
This study is currently recruiting participants.
Verified May 2013 by Edison Pharmaceuticals Inc
Sponsor:
Edison Pharmaceuticals Inc
Collaborators:
Axio Research. LLC
Biosoteria
Information provided by (Responsible Party):
Edison Pharmaceuticals Inc
ClinicalTrials.gov Identifier:
NCT01721733
First received: November 1, 2012
Last updated: May 17, 2013
Last verified: May 2013
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Purpose
The purpose of this study is to evaluate the effects of EPI-743 in children with Leigh syndrome on disease severity, neuromuscular function, respiratory function, disease morbidity and mortality and disease associated biomarkers.
| Condition | Intervention | Phase |
|---|---|---|
|
Leigh Syndrome |
Drug: Placebo Drug: EPI-743 15 mg/kg Drug: EPI-743 5 mg/kg |
Phase 2 |
| Study Type: | Interventional |
| Study Design: | Allocation: Randomized Endpoint Classification: Safety/Efficacy Study Intervention Model: Crossover Assignment Masking: Double Blind (Subject, Caregiver, Investigator, Outcomes Assessor) Primary Purpose: Treatment |
| Official Title: | A Phase 2B Randomized, Placebo Controlled, Double Blind Clinical Trial of EPI-743 in Children With Genetically Confirmed Leigh Syndrome |
Resource links provided by NLM:
Genetics Home Reference related topics:
ataxia neuropathy spectrum
childhood myocerebrohepatopathy spectrum
deoxyguanosine kinase deficiency
Leigh syndrome
mitochondrial neurogastrointestinal encephalopathy disease
myoclonic epilepsy myopathy sensory ataxia
pyruvate carboxylase deficiency
succinic semialdehyde dehydrogenase deficiency
U.S. FDA Resources
Further study details as provided by Edison Pharmaceuticals Inc:
Primary Outcome Measures:
- Newcastle Pediatric Mitochondrial Disease Scale (NPMDS) Sections 1-3 [ Time Frame: 6 months ] [ Designated as safety issue: No ]Change from baseline to six months will be compared between subjects in active treatment group and placebo group
Secondary Outcome Measures:
- Neuromuscular function [ Time Frame: 6 months ] [ Designated as safety issue: No ]Gross Motor Function Measure; Barry Albright Dystonia Scale
- Respiratory function [ Time Frame: 6 months ] [ Designated as safety issue: No ]Need for tracheostomy
- Disease morbidity [ Time Frame: 6 months ] [ Designated as safety issue: No ]Total number of hospitalizations
- Glutathione cycle biomarkers [ Time Frame: 6 months ] [ Designated as safety issue: No ]Blood levels of glutathione will be compared between placebo and treatment group
- Number of dose limiting serious adverse events [ Time Frame: 6 months ] [ Designated as safety issue: Yes ]
- Mortality [ Designated as safety issue: No ]Number of deaths
| Estimated Enrollment: | 30 |
| Study Start Date: | October 2012 |
| Estimated Study Completion Date: | May 2014 |
| Estimated Primary Completion Date: | February 2014 (Final data collection date for primary outcome measure) |
| Arms | Assigned Interventions |
|---|---|
|
Placebo Comparator: Placebo
Each patient will receive a volume of placebo based on weight
|
Drug: Placebo |
|
Active Comparator: EPI-743 15 mg/kg
Each subjects dose will be based on their weight. 15 mg/kg with a maximum dose of 200 mg per dose, t.i.d., will be administered in this treatment arm.
|
Drug: EPI-743 15 mg/kg |
|
Active Comparator: EPI-743 5 mg/kg
Each subjects dose will be based on their weight. 5 mg/kg with a maximum dose of 100 mg per dose, t.i.d., will be administered in this treatment arm.
|
Drug: EPI-743 5 mg/kg |
Detailed Description:
The purpose of this study is to evaluate the effects of EPI-743 in patient with Leigh syndrome on disease severity, neuromuscular function, respiratory function, disease morbidity and mortality and biomarkers associated with the disease.
This study is a six month prospective randomized double-blind, placebo-controlled trial with a six month extension phase of two dose levels of EPI743. The planned enrollment is for approximately 30 children with genetically confirmed Leigh syndrome. After 6 months of treatment, those children that were randomized to the placebo treatment arm will be re-randomized to one of the 2 active treatment arms.
Eligibility| Ages Eligible for Study: | 6 Months to 17 Years |
| Genders Eligible for Study: | Both |
| Accepts Healthy Volunteers: | No |
Criteria
Inclusion Criteria:
- Confirmed genetic mutations associated with Leigh syndrome
- Moderate disease severity based on NPMDS score
- Documented evidence of disease progression within 12 month of enrollment
- Availability of MRI that confirms necrotizing encephalopathy
- Patient or guardian able to consent and comply with protocol requirements
- Abstention from Coenzyme Q10, Vitamins C & E, lipoic acid and Idebenone
Exclusion Criteria:
- Allergy to EPI-743, Vitamin E or sesame oil
- History of bleeding abnormalities or abnormal PT/PTT
- Diagnosis of concurrent inborn error of metabolism
- Previous tracheostomy
- Ventilator dependent or use of noninvasive ventilatory support w/in 1 month of enrollment
- LFTs greater than 2 times ULN
- Renal insufficiency
- End stage cardiac failure
- Fat malabsorption syndrome
- Use of anticoagulant medications
Contacts and Locations
Please refer to this study by its ClinicalTrials.gov identifier: NCT01721733
Contacts
| Contact: Matthew Klein, MD, MS, FACS | 650-641-9211 | mklein@edisonpharma.com |
| Contact: Erin Johnson, BA | 650-641-9212 | ejohnson@edisonpharma.com |
Locations
| United States, California | |
| Stanford University | Recruiting |
| Palo Alto, California, United States, 94304 | |
| Contact: Gregory Enns, MD 650-498-5798 genns@stanford.edu | |
| Principal Investigator: Gregory Enns, MD | |
| United States, Ohio | |
| Akron Children's Hospital | Recruiting |
| Akron, Ohio, United States, 44308 | |
| Contact: Bruce Cohen, MD 330-543-6048 bcohen@chmca.org | |
| Contact: Hilary Tonni, RN, BSN 330-543-4734 hwolf@chmca.org | |
| Principal Investigator: Bruce Cohen, MD | |
| United States, Texas | |
| Baylor College of Medicine | Recruiting |
| Houston, Texas, United States, 77030 | |
| Contact: Fernando Scaglia, MD fscaglia@bcm.edu | |
| Contact: Catherine Loffredo 832-822-4276 ccarter@bcm.edu | |
| Principal Investigator: Fernando Scaglia, MD, FACMG | |
| United States, Washington | |
| Seattle Children's Hospital | Not yet recruiting |
| Seattle, Washington, United States, 98105 | |
| Contact: Russell Saneto, MD, PhD 206-987-4017 russ.saneto@seattlechildrens.org | |
| Contact: Laurie Guidry, RNC, BSN 206-987-0058 laurie.guidry@seattlechildrens.org | |
| Principal Investigator: Russell Saneto, MD, PhD | |
Sponsors and Collaborators
Edison Pharmaceuticals Inc
Axio Research. LLC
Biosoteria
More Information
Additional Information:
No publications provided
| Responsible Party: | Edison Pharmaceuticals Inc |
| ClinicalTrials.gov Identifier: | NCT01721733 History of Changes |
| Other Study ID Numbers: | EPI743-12-002 |
| Study First Received: | November 1, 2012 |
| Last Updated: | May 17, 2013 |
| Health Authority: | United States: Food and Drug Administration |
Keywords provided by Edison Pharmaceuticals Inc:
|
EPI743 Leigh syndrome respiratory chain disease mitochondrial disorders |
Additional relevant MeSH terms:
|
Leigh Disease Brain Diseases, Metabolic, Inborn Brain Diseases, Metabolic Brain Diseases Central Nervous System Diseases Nervous System Diseases |
Metabolism, Inborn Errors Genetic Diseases, Inborn Pyruvate Metabolism, Inborn Errors Carbohydrate Metabolism, Inborn Errors Metabolic Diseases Mitochondrial Diseases |
ClinicalTrials.gov processed this record on May 19, 2013