Clinical Trial: A Long-Term Extension Study of RP103-MITO-001 (NCT02023866) to Assess RP103 in Children With Inherited Mitochondrial Disease

Study Status: Completed
Recruit Status: Completed
Study Type: Interventional

Official Title: A Long-Term Open-Label Extension Study of RP103-MITO-001 to Assess the Safety, Tolerability and Efficacy of Cysteamine Bitartrate Delayed-release Capsules (RP103) for Treatment of Children With Inheri

Brief Summary: A long-term extension study of patients with mitochondrial diseases, who are ≥ 6 years old and < 18 years previously enrolled into the RP103-MITO-001 (NCT02023866) study assessing the safety, tolerability and efficacy of RP103.

Detailed Summary:

Patients with either documented genetically confirmed diagnosis of inherited mitochondrial diseases, who are ≥ 6 years old and < 18 years, and meet other specified inclusion and exclusion criteria, will be included in this study.

Patients with inherited mitochondrial diseases associated with nuclear or mitochondrial DNA mutations that impair the respiratory chain. These include, but are not limited to the following clinical syndromes: Leber's hereditary optic neuropathy; myoclonic epilepsy and ragged-red fibers (MERFF); mitochondrial encephalomyopathy, lactic acidosis, and stroke-like syndrome (MELAS); Kearn-Sayre syndrome; subacute necrotizing encephalopathy (Leigh Syndrome); POLG-related disorders (Alpers-Huttenlocher Syndrome, Autosomal Dominant Progressive External Ophthalmoplegia, Autosomal Recessive Progressive External Ophthalmoplegia, Childhood Myocerebrohepatopathy Spectrum Disorders, Myoclonic Epilepsy Myopathy Sensory Ataxia, POLG-Related Ataxia Neuropathy Spectrum Disorders); Mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE), also called myoneurogastrointestinal encephalopathy syndrome or POLIP syndrome; others, e.g., mitochondrial cardiomyopathies and other syndromes due to multiple mitochondrial DNA deletions.

Patients completing the RP103-MITO-001(NCT02023866) study are eligible for enrollment into the extension study RP103-MITO-002 if all inclusion and exclusion criteria are fulfilled. Subjects continue on the last total daily dose of RP103 taken during RP103-MITO-001. Dose-adjustments are permitted.The sample size is maximally 25 subjects.


Sponsor: Horizon Pharma USA, Inc.

Current Primary Outcome: Change in Newcastle Paediatric Mitochondrial Disease Scale (NPMDS) Score [ Time Frame: Baseline, Every 3 months and Study Exit (up to 24 Months) ]

Quality of Life


Original Primary Outcome: Change in Newcastle Paediatric Mitochondrial Disease Scale (NPMDS) Score [ Time Frame: Time Frame: Baseline vs. Month 24 ]

Quality of Life


Current Secondary Outcome:

  • Change over time in two of the most pre-eminent symptoms [ Time Frame: Baseline, Every 3 months and Study Exit (up to 24 Months) ]
    Myopathy, Dystonia, Ataxia, Retarded motor development, Reduced activities of daily living, Vision.
  • Change over time in Pharmacodynamic Biomarkers [ Time Frame: Baseline, Every 3 months and Study Exit (up to 24 Months) ]
    Glutathione, glutathione disulfide, and lactate.


Original Secondary Outcome: Change in pre-eminent symptom scales (choice of 6-minute walk; Jama dynamometer; Barry-Albright Dystonia Scale; Friedreich Ataxia Rating Scale;Gross Motor Function Measure; Modified Lansky Play Performance Scale; Vision/Eye Examination) [ Time Frame: Time Frame: Baseline vs. Month 24 ]

Quality of life


Information By: Horizon Pharma USA, Inc.

Dates:
Date Received: June 10, 2015
Date Started: May 2015
Date Completion:
Last Updated: April 11, 2017
Last Verified: April 2017