A Phase 2 interventional study of Cysteamine Bitartrate in Mitochondrial Diseases, sponsored by Amgen. Terminated at 5 sites in United States. Open to participants aged 6 Years to 17 Years. Per ClinicalTrials.gov, last updated 2024-12-27.
Sponsored by Amgen · Phase 2, Interventional, and Treatment
A long-term extension study to assess the safety, tolerability and efficacy of cysteamine bitartrate delayed-release capsules (RP103) in children with inherited mitochondrial diseases who previously enrolled into study RP103-MITO-001 (NCT02023866).
Patients with inherited mitochondrial diseases associated with nuclear or mitochondrial deoxyribonucleic acid (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); polymerase gamma (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 polyneuropathy-ophthalmoplegia-leukoencephalopathy- Intestinal pseudoobstruction (POLIP) syndrome; others, e.g., mitochondrial cardiomyopathies and other syndromes due to multiple mitochondrial DNA deletions.
Patients completing study RP103-MITO-001 (NCT02023866) 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 cysteamine bitartrate delayed-release capsules taken during RP103-MITO-001. Dose-adjustments are permitted.
Study with completed results acquired from Horizon in 2024.
186 studies on the registry are indexed under Mitochondrial Diseases; 57 are open to participants now.
This study's enrollment of 22 is below the median of 29 across 103 interventional studies indexed under Mitochondrial Diseases.
Browse Mitochondrial Diseases studies →Amgen is the lead sponsor of 1,044 studies on the registry; 51 are open to participants now.
Of its 246 completed or terminated interventional studies of FDA-regulated products, 164 (67%) have results posted.
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Sexually active female subjects of childbearing potential (i.e., not surgically sterile [tubal ligation, hysterectomy, or bilateral oophorectomy]) must agree to utilize two of the following acceptable forms of contraception throughout the study (from Day 1 to Study Exit):
Exclusion Criteria:
Participants received cysteamine bitartrate delayed-release capsules (RP103) twice daily for up to 2 years. The starting dose was the same as the last dose received in study RP103-MITO-001, the maximum dose was 1.3 g/m²/day.
Drug: Cysteamine Bitartrate
Cysteamine Bitartrate Delayed-release capsules
Also known as: RP103, PROCYSBI®
Change in Newcastle Paediatric Mitochondrial Disease Scale (NPMDS) Score
The NPMDS evaluates the progression of mitochondrial disease in pediatric patients in 4 domains: I - Current Function (vision, hearing, communication, feeding, and mobility) with scores ranging from 0 to 21; II - System Specific Involvement (seizures, encephalopathy, bleeding diathesis or coagulation defects, gastrointestinal, endocrine, respiratory, cardiovascular, renal, liver, and blood) with scores ranging from 0 to 30. III - Current Clinical Assessment (growth and development over past 6 months, vision, strabismus and eye movement, myopathy, ataxia, pyramidal, extrapyramidal, and neuropathy) with scores ranging from 0 to 28; IV - Quality of Life with scores ranging from 0 to 25. For sections I-III, higher scores reflect more severe disease. For Section IV, a higher score reflects a lower quality of life.
Time frame: Baseline, every 3 months and Study Exit (up to 24 Months)
Change Over Time in Two of the Most Pre-eminent Symptoms
The two pre-eminent symptoms previously identified in study RP103-MITO-001 were to be continued to be assessed during the extension study. Symptoms included myopathy, dystonia, ataxia, retarded motor development, reduced activities of daily living, and vision.
Time frame: Baseline, every 3 months and Study Exit (up to 24 Months)
Change Over Time in Pharmacodynamic Biomarkers
Change from baseline in glutathione, glutathione disulfide, and lactate analyses were not performed as the study was prematurely terminated.
Time frame: Baseline, every 3 months and Study Exit (up to 24 Months)
Participants who completed study RP103-MITO-001 (NCT02023866) study were eligible for enrollment into this extension study. The study was conducted at 5 sites in the United States.
| Milestone | Cysteamine Bitartrate Delayed-release |
|---|---|
| Started | 22 |
| Completed | 0 |
| Not completed | 22 |
| Withdrew: Withdrawal by subject | 2 |
| Withdrew: Sponsor decision | 20 |
The NPMDS evaluates the progression of mitochondrial disease in pediatric patients in 4 domains: I - Current Function (vision, hearing, communication, feeding, and mobility) with scores ranging from 0 to 21; II - System Specific Involvement (seizures, encephalopathy, bleeding diathesis or coagulation defects, gastrointestinal, endocrine, respiratory, cardiovascular, renal, liver, and blood) with scores ranging from 0 to 30. III - Current Clinical Assessment (growth and development over past 6 months, vision, strabismus and eye movement, myopathy, ataxia, pyramidal, extrapyramidal, and neuropathy) with scores ranging from 0 to 28; IV - Quality of Life with scores ranging from 0 to 25. For sections I-III, higher scores reflect more severe disease. For Section IV, a higher score reflects a lower quality of life.
No measurements were reported for this outcome.
The two pre-eminent symptoms previously identified in study RP103-MITO-001 were to be continued to be assessed during the extension study. Symptoms included myopathy, dystonia, ataxia, retarded motor development, reduced activities of daily living, and vision.
No measurements were reported for this outcome.
Change from baseline in glutathione, glutathione disulfide, and lactate analyses were not performed as the study was prematurely terminated.
No measurements were reported for this outcome.
Collected over From first dose of study drug until the last dose; median duration of treatment was 238 days.. Non-serious events are listed at a 5% frequency threshold.
| Group | Deaths | Serious | Other |
|---|---|---|---|
| Cysteamine Bitartrate Delayed-release | 0/22 (0%) | 9/22 (40.9%) | 18/22 (81.8%) |
| Event | Cysteamine Bitartrate Delayed-release |
|---|---|
| VomitingGastrointestinal disorders | 2/22 |
| ConvulsionNervous system disorders | 2/22 |
| BlepharospasmEye disorders | 1/22 |
| DiarrhoeaGastrointestinal disorders | 1/22 |
| Clostridium difficile infectionInfections and infestations | 1/22 |
| Device related infectionInfections and infestations | 1/22 |
| InfluenzaInfections and infestations | 1/22 |
| Parainfluenzae virus infectionInfections and infestations | 1/22 |
| Respiratory syncytial virus bronchiolitisInfections and infestations | 1/22 |
| Rhinovirus infectionInfections and infestations | 1/22 |
| Event | Cysteamine Bitartrate Delayed-release |
|---|---|
| VomitingGastrointestinal disorders | 11/22 |
| PyrexiaGeneral disorders | 5/22 |
| Abdominal painGastrointestinal disorders | 2/22 |
| NauseaGastrointestinal disorders | 2/22 |
| AstheniaGeneral disorders | 2/22 |
| AtaxiaNervous system disorders | 2/22 |
| ConvulsionNervous system disorders | 2/22 |
| HeadacheNervous system disorders | 2/22 |
| LethargyNervous system disorders | 2/22 |
| MyoclonusNervous system disorders | 2/22 |
| Age, Continuous(years) | Cysteamine Bitartrate Delayed-release |
|---|---|
| Mean | 10.8 ± 4.5 |
| Sex: Female, Male(Participants) | Cysteamine Bitartrate Delayed-release |
|---|---|
| Female | 10 |
| Male | 12 |
| Ethnicity (NIH/OMB)(Participants) | Cysteamine Bitartrate Delayed-release |
|---|---|
| Hispanic or Latino | 0 |
| Not Hispanic or Latino | 22 |
| Unknown or Not Reported | 0 |
| Race/Ethnicity, Customized(Participants) | Cysteamine Bitartrate Delayed-release |
|---|---|
| American Indian or Alaska Native | 0 |
| Asian | 2 |
| Black of African American | 0 |
| Native Hawaiian or other Pacific Islander | 0 |
| White | 18 |
| Other | 0 |
| Multiple | 2 |
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Studies of the drug tested here: Cysteamine