E.1 Medical condition or disease under investigation |
E.1.1 | Medical condition(s) being investigated |
Inherited mitochondrial disease |
Enfermedad mitocondrial hereditaria |
|
E.1.1.1 | Medical condition in easily understood language |
Inherited mitochondrial disease |
Enfermedad mitocondrial hereditaria |
|
E.1.1.2 | Therapeutic area | Diseases [C] - Nervous System Diseases [C10] |
MedDRA Classification |
E.1.2 Medical condition or disease under investigation |
E.1.2 | Version | 20.0 |
E.1.2 | Level | HLT |
E.1.2 | Classification code | 10052637 |
E.1.2 | Term | Genetic mitochondrial abnormalities NEC |
E.1.2 | System Organ Class | 100000004850 |
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E.1.3 | Condition being studied is a rare disease | Yes |
E.2 Objective of the trial |
E.2.1 | Main objective of the trial |
To assess the safety of vatiquinone in subjects with inherited mitochondrial disease who had prior exposure to vatiquinone in a PTC/BioElectron-sponsored (previously Edison) clinical study or treatment plan |
Evaluar la seguridad de la vatiquinona en sujetos con enfermedad mitocondrial hereditaria que hayan estado expuestos anteriormente a la vatiquinona en un estudio clínico o plan de tratamiento patrocinado por PTC/BioElectron (antes, Edison). |
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E.2.2 | Secondary objectives of the trial |
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E.2.3 | Trial contains a sub-study | No |
E.3 | Principal inclusion criteria |
1. Subjects 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. 2. Women of childbearing potential, as defined in (CTFG 2020), must have a negative pregnancy test at screening/baseline and agree to abstinence or the use of at least one of the following highly effective forms of contraception (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 50 days after the last dose of study drug: • combined (estrogen and progestogen containing) hormonal contraception associated with inhibition of ovulation: − oral − intravaginal − transdermal • progestogen-only hormonal contraception associated with inhibition of ovulation: − oral − injectable − implantable • intrauterine device • intrauterine hormone-releasing system • vasectomized partner with confirmed azoospermia All females will be considered of childbearing potential unless they are postmenopausal (at least 12 months consecutive amenorrhea in the appropriate age group without other known or suspected cause) or have been sterilized surgically (eg, bilateral tubal ligation, hysterectomy, bilateral oophorectomy). 3. Fertile men, as defined in (CTFG 2020), 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 50 days after the last dose of study drug. |
1. Sujetos con enfermedad mitocondrial hereditaria, lo que comprende síndrome de Leigh, síndrome de Alpers, encefalomiopatía mitocondrial con acidosis láctica y accidentes cerebrovasculares (síndrome MELAS), epilepsia mioclónica con fibras rojas rasgadas (MERRF), hipoplasia pontocerebelosa de tipo 6 (PCH6) u otra enfermedad mitocondrial, que hayan participado con anterioridad en un estudio clínico o plan de tratamiento con vatiquinona. 2. Las mujeres potencialmente fértiles (como se define en [CTFG 2020]) deben tener una prueba de embarazo negativa en la selección/momento basal y comprometerse a mantener abstinencia sexual o a utilizar por lo menos uno de los siguientes métodos anticonceptivos muy efectivos (con una tasa de fracaso <1% al año si se utilizan de forma sistemática y correcta). Tales métodos anticonceptivos muy efectivos o la abstinencia deberán mantenerse durante todo el estudio y hasta 50 días después de la última dosis del fármaco del estudio: • anticonceptivos hormonales combinados (con estrógenos y gestágenos) para inhibición de la ovulación: − orales − intravaginales − transdérmicos • anticonceptivos hormonales solo de gestágeno para inhibición de la ovulación: − orales − inyectables − implantables • dispositivo intrauterino • sistema intrauterino liberador de hormonas • pareja vasectomizada con azoospermia confirmada Todas las mujeres se considerarán potencialmente fértiles salvo que sean posmenopáusicas (como mínimo 12 meses consecutivos de amenorrea en el grupo de edad correspondiente sin que se conozca o sospeche otra causa) o hayan sido esterilizadas quirúrgicamente (p. ej., ligadura de trompas bilateral, histerectomía, ooforectomía bilateral). 3. Los varones fértiles, como se define en (CTFG 2020), que mantengan relaciones sexuales con mujeres potencialmente fértiles y que no hayan sido vasectomizados, deben comprometerse a utilizar un método anticonceptivo de barrera durante el estudio y hasta 50 días después de la última dosis del fármaco del estudio. |
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E.4 | Principal exclusion criteria |
1. Current participation in any other interventional study. 2. Pregnancy or breast feeding. |
1. Participación actual en cualquier otro estudio intervencionista 2. Embarazo o lactancia |
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E.5 End points |
E.5.1 | Primary end point(s) |
Adverse events (AEs)/SAEs, ECGs, vital signs, and laboratory data (hematology, biochemistry, and urine data) |
AE/SAE, ECG, constantes vitales y valores de laboratorio (hematología, coagulación, bioquímica y análisis de orina). |
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E.5.1.1 | Timepoint(s) of evaluation of this end point |
throughout study |
A lo largo del estudio |
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E.5.2 | Secondary end point(s) |
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E.5.2.1 | Timepoint(s) of evaluation of this end point |
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E.6 and E.7 Scope of the trial |
E.6 | Scope of the trial |
E.6.1 | Diagnosis | No |
E.6.2 | Prophylaxis | No |
E.6.3 | Therapy | Yes |
E.6.4 | Safety | Yes |
E.6.5 | Efficacy | Yes |
E.6.6 | Pharmacokinetic | No |
E.6.7 | Pharmacodynamic | No |
E.6.8 | Bioequivalence | No |
E.6.9 | Dose response | No |
E.6.10 | Pharmacogenetic | No |
E.6.11 | Pharmacogenomic | No |
E.6.12 | Pharmacoeconomic | No |
E.6.13 | Others | Yes |
E.6.13.1 | Other scope of the trial description |
open label extension |
Estudio abierto extensión |
|
E.7 | Trial type and phase |
E.7.1 | Human pharmacology (Phase I) | No |
E.7.1.1 | First administration to humans | No |
E.7.1.2 | Bioequivalence study | No |
E.7.1.3 | Other | No |
E.7.1.3.1 | Other trial type description | |
E.7.2 | Therapeutic exploratory (Phase II) | No |
E.7.3 | Therapeutic confirmatory (Phase III) | Yes |
E.7.4 | Therapeutic use (Phase IV) | No |
E.8 Design of the trial |
E.8.1 | Controlled | No |
E.8.1.1 | Randomised | No |
E.8.1.2 | Open | Yes |
E.8.1.3 | Single blind | No |
E.8.1.4 | Double blind | No |
E.8.1.5 | Parallel group | No |
E.8.1.6 | Cross over | No |
E.8.1.7 | Other | No |
E.8.2 | Comparator of controlled trial |
E.8.2.1 | Other medicinal product(s) | No |
E.8.2.2 | Placebo | No |
E.8.2.3 | Other | No |
E.8.2.4 | Number of treatment arms in the trial | 1 |
E.8.3 |
The trial involves single site in the Member State concerned
| No |
E.8.4 | The trial involves multiple sites in the Member State concerned | Yes |
E.8.4.1 | Number of sites anticipated in Member State concerned | 3 |
E.8.5 | The trial involves multiple Member States | Yes |
E.8.5.1 | Number of sites anticipated in the EEA | 9 |
E.8.6 Trial involving sites outside the EEA |
E.8.6.1 | Trial being conducted both within and outside the EEA | Yes |
E.8.6.2 | Trial being conducted completely outside of the EEA | No |
E.8.6.3 | If E.8.6.1 or E.8.6.2 are Yes, specify the regions in which trial sites are planned |
United States |
France |
Spain |
Italy |
United Kingdom |
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E.8.7 | Trial has a data monitoring committee | No |
E.8.8 |
Definition of the end of the trial and justification where it is not the last
visit of the last subject undergoing the trial
|
The end of the study per subject disposition will be the date of the last study visit for the last subject in the study. |
El final del estudio según disposición del paciente será la fecha de la última visita del último paciente en el estudio. |
|
E.8.9 Initial estimate of the duration of the trial |
E.8.9.1 | In the Member State concerned years | 2 |
E.8.9.1 | In the Member State concerned months | 0 |
E.8.9.1 | In the Member State concerned days | 0 |
E.8.9.2 | In all countries concerned by the trial years | 2 |
E.8.9.2 | In all countries concerned by the trial months | 6 |
E.8.9.2 | In all countries concerned by the trial days | 16 |