Inherited Mitochondrial Disease
Conditions
Keywords
Leigh syndrome, Alpers Syndrome, mitochondrial encephalomyopathy, MELAS, MERRF, PCH6, refractory epilepsy
Brief summary
The primary objective of this study is to assess the safety of vatiquinone in participants with inherited mitochondrial disease who had prior exposure to vatiquinone in a PTC/BioElectron sponsored (previously Edison) clinical study or treatment plan. The study will continue until vatiquinone becomes commercially available or the program is terminated.
Interventions
DRUGVatiquinone
Vatiquinone will be administered per dose and schedule specified in the arm description.
Sponsors
PTC Therapeutics
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
NONE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
Inclusion criteria
* Participants with inherited mitochondrial disease including Leigh syndrome, Alpers syndrome, mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS), myoclonic epilepsy with ragged-red fibers (MERRF), pontocerebellar hypoplasia type 6 (PCH6), or other mitochondrial disease who participated in a previous vatiquinone clinical study or treatment plan. * Women of childbearing potential must have a negative pregnancy test at screening/baseline and agree to abstinence or the use of at least 1 of the highly effective forms of contraception as specified in the protocol (with a failure rate of \<1% per year when used consistently and correctly). Highly effective contraception or abstinence must be continued for the duration of the study, and for up to 30 days after the last dose of study drug. * Fertile men who are sexually active with women of childbearing potential and who have not had a vasectomy, must agree to use a barrier method of birth control during the study and for up to 30 days after the last dose of study drug.
Exclusion criteria
* Current participation in any other interventional study. * Pregnancy or breast feeding.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Number of Participants With Treatment-emergent Adverse Events (TEAEs) | Baseline (Day 1) up to 30 days after last dose of study drug (956 days) | An adverse event (AE) was any untoward medical occurrence in a participant who received study drug without regard to possibility of causal relationship. AEs included both serious adverse events (SAEs) and non-serious AEs. A TEAE was defined as an AE that had an onset date or date of worsening on or after the first dose of study drug and within 30 days of the date of the last dose of treatment. A summary of other non-serious AEs and all SAEs, regardless of causality is located in the 'Reported AE section'. |
Countries
France, Italy, Japan, Poland, Spain, United Kingdom, United States
Participant flow
Pre-assignment details
A total of 103 participants were screened, of which 101 participants were enrolled in the study and received at least 1 dose of vatiquinone.
Participants by arm
| Arm | Count |
|---|---|
| Vatiquinone Participants received vatiquinone oral solution (100 milligrams \[mg\]/milliliter \[mL\]), up to 400 mg, administered orally or via feeding tube 3 times daily (TID). | 101 |
| Total | 101 |
Withdrawals & dropouts
| Period | Reason | FG000 |
|---|---|---|
| Overall Study | Adverse Event | 6 |
| Overall Study | Death | 1 |
| Overall Study | Lost to Follow-up | 3 |
| Overall Study | Other than specified | 3 |
| Overall Study | Sponsor's decision | 85 |
| Overall Study | Withdrawal by Subject | 3 |
Baseline characteristics
| Characteristic | Vatiquinone |
|---|---|
| Age, Continuous | 15.5 years STANDARD_DEVIATION 11.56 |
| Race/Ethnicity, Customized Ethnicity Hispanic or Latino | 9 Participants |
| Race/Ethnicity, Customized Ethnicity Missing | 1 Participants |
| Race/Ethnicity, Customized Ethnicity Not Hispanic or Latino | 86 Participants |
| Race/Ethnicity, Customized Ethnicity Not Reported | 3 Participants |
| Race/Ethnicity, Customized Ethnicity Unknown | 2 Participants |
| Race/Ethnicity, Customized Race American Indian/Alaska Native | 1 Participants |
| Race/Ethnicity, Customized Race Asian | 8 Participants |
| Race/Ethnicity, Customized Race Black/African American | 2 Participants |
| Race/Ethnicity, Customized Race Missing | 5 Participants |
| Race/Ethnicity, Customized Race Other | 1 Participants |
| Race/Ethnicity, Customized Race Unknown | 1 Participants |
| Race/Ethnicity, Customized Race White | 83 Participants |
| Sex: Female, Male Female | 49 Participants |
| Sex: Female, Male Male | 52 Participants |
Adverse events
| Event type | EG000 affected / at risk |
|---|---|
| deaths Total, all-cause mortality | 7 / 101 |
| other Total, other adverse events | 59 / 101 |
| serious Total, serious adverse events | 45 / 101 |
Outcome results
Primary
Number of Participants With Treatment-emergent Adverse Events (TEAEs)
An adverse event (AE) was any untoward medical occurrence in a participant who received study drug without regard to possibility of causal relationship. AEs included both serious adverse events (SAEs) and non-serious AEs. A TEAE was defined as an AE that had an onset date or date of worsening on or after the first dose of study drug and within 30 days of the date of the last dose of treatment. A summary of other non-serious AEs and all SAEs, regardless of causality is located in the 'Reported AE section'.
Time frame: Baseline (Day 1) up to 30 days after last dose of study drug (956 days)
Population: Safety population included all participants who received at least 1 dose of vatiquinone in the study.
| Arm | Measure | Value (COUNT_OF_PARTICIPANTS) |
|---|---|---|
| Vatiquinone | Number of Participants With Treatment-emergent Adverse Events (TEAEs) | 91 Participants |