E.1 Medical condition or disease under investigation |
E.1.1 | Medical condition(s) being investigated |
Pompe disease (acid alpha-glucosidase deficiency) |
Enfermedad de Pompe (deficiencia en ácido alglucosidasa alfa) |
|
E.1.1.1 | Medical condition in easily understood language |
Treatment of enzyme deficiency in glycogen storage disease type II (Pompe disease) |
El tratamiento de la deficiencia de la enzima en el almacenamiento de glucógeno tipo II de la enfermedad (enfermedad de Pompe) |
|
E.1.1.2 | Therapeutic area | Diseases [C] - Nutritional and Metabolic Diseases [C18] |
MedDRA Classification |
E.1.2 Medical condition or disease under investigation |
E.1.2 | Version | 19.0 |
E.1.2 | Level | LLT |
E.1.2 | Classification code | 10036143 |
E.1.2 | Term | Pompe's disease |
E.1.2 | System Organ Class | 100000004850 |
|
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 determine the effect of neoGAA (GZ402666) treatment on respiratory muscle strength measured by percent predicted forced vital capacity (% FVC) in the upright position, as compared to alglucosidase alfa. |
El objetivo principal del estudio es determinar el efecto del tratamiento con neoGAA sobre la fuerza muscular respiratoria determinada por el % del valor previsto de Capacidad Vital Forzada (CVF) en posición erguida, frente a alglucosidasa alfa. |
|
E.2.2 | Secondary objectives of the trial |
To determine the safety and effect of neoGAA treatment on inspiratory muscle strength (maximum inspiratory pressure [MIP]), expiratory muscle strength (maximum expiratory pressure [MEP]), unctional endurance (6-minute walk test[6MWT]), lower extremity muscle strength (hand-held dynamometry [HHD]), motor function (Quick Motor Function Test [QMFT]), and health-related quality of life (SF-12). |
Determinar la seguridad y el efecto del tratamiento con neoGAA sobre la fuerza muscular inspiratoria (presión inspiratoria máxima [PIM]), la fuerza muscular espiratoria (presión espiratoria máxima [PEM]), la resistencia funcional (prueba de marcha de 6 minutos [PM6M]), la fuerza muscular de las extremidades inferiores (dinamometría manual [DM]), la función motora (Prueba Rápida de la Función Motora [Quick Motor Function Test, QMFT]), y la calidad de vida relacionada con la salud (formulario abreviado-12 [Short Form-12, SF-12]). |
|
E.2.3 | Trial contains a sub-study | No |
E.3 | Principal inclusion criteria |
-The patient has confirmed GAA enzyme deficiency from any tissue source and/or 2 confirmed GAA gene mutations. -The patient and/or their parent/legal guardian is willing and able to provide signed informed consent, and the patient, if <18 years of age, is willing to provide assent if deemed able to do so. -The patient (and patient’s legal guardian if patient is <18 years of age) must have the ability to comply with the clinical protocol. -The patient, if female and of childbearing potential, must have a negative pregnancy test (betahuman chorionic gonadotropin) at baseline. |
-El paciente tiene deficiencia confirmada de la enzima GAA en cualquier tejido y/o 2 mutaciones confirmadas en el gen de GAA. -El paciente y / o su padre / tutor legal esté dispuesto y es capaz de dar su consentimiento informado por escrito, y el paciente, si <18 años de edad, esté dispuesto a dar el asentimiento si se considera en condiciones de hacerlo. -El paciente (y el tutor legal del paciente si el paciente es <18 años de edad) deben tener la capacidad de cumplir con el protocolo del ensayo clínico. -El paciente, si es mujer y en edad fértil, debe tener una prueba de embarazo negativa (betahuman gonadotropina coriónica) al inicio del estudio. |
|
E.4 | Principal exclusion criteria |
-The patient is <3 years of age. -The patient has known Pompe specific cardiac hypertrophy. -The patient is wheelchair dependent. -The patient is not able to ambulate 40 meters (approximately 130 feet) without topping and without an assistive device. -The patient requires invasive-ventilation (non-invasive ventilation is allowed). -The patient is not able to successfully perform repeated forced vital capacity (FVC) measurements in upright position of ≥40% predicted and ≤85% predicted. -The patient has had previous treatment with alglucosidase alfa or any investigational therapy for Pompe disease. -The patient has prior or current use of immune tolerance induction therapy |
-El paciente tiene <3 años -El paciente tiene hipertrofia cardiaca específica de Pompe conocida -El paciente depende de una silla de ruedas -El paciente no es capaz de deambular 40 metros sin parar y sin un dispositivo de ayuda, -El paciente necesita ventilación invasiva (se permite la ventilación no invasiva), -El paciente no es capaz de realizar correctamente mediciones repetidas de la CVF en posición erguida de 40% del valor previsto y de 85% del valor previsto, -El paciente ha recibido tratamiento previo con alglucosidasa alfa, o cualquier tratamiento en investigación para la enfermedad de Pompe. -El paciente ha recibido previa o actualmente terapia de inducción de tolerancia inmune. |
|
E.5 End points |
E.5.1 | Primary end point(s) |
Change from baseline in percent predicted forced vital capacity (%FVC) in upright position |
Cambio desde el momento basal en el % del valor previsto de CVF en posición erguida |
|
E.5.1.1 | Timepoint(s) of evaluation of this end point |
Baseline to 12 months |
Desde la basal hasta los 12 meses. |
|
E.5.2 | Secondary end point(s) |
Change from baseline in maximal inspiratory pressure in upright position
Change from baseline in maximal expiratory pressure in upright position
Change from baseline in six-minute walk test scores
Change from baseline in hand-held dynamometry measurement
Change from baseline in Quick Motor Function Test scores
Change from baseline in 12- Item Short-form health survey scores |
Cambio del valor inicial de la presión inspiratoria máxima en posición vertical
Cambio del valor inicial de la presión espiratoria máxima en posición vertical
El cambio en resultados desde la línea base de las pruebas de caminata de seis minutos
Cambio del valor inicial en la medición del dinamómetro de mano
El cambio en resultados desde la línea base de los exámenes de la función motora rápida
Cambio en la puntuaciones desde el inicio en el cuestionario de 12 puntos de salud |
|
E.5.2.1 | Timepoint(s) of evaluation of this end point |
Baseline to 12 months |
Desde la basal hasta los 12 meses. |
|
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 | Yes |
E.6.7 | Pharmacodynamic | Yes |
E.6.8 | Bioequivalence | No |
E.6.9 | Dose response | No |
E.6.10 | Pharmacogenetic | No |
E.6.11 | Pharmacogenomic | Yes |
E.6.12 | Pharmacoeconomic | Yes |
E.6.13 | Others | No |
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 | Yes |
E.8.1.1 | Randomised | Yes |
E.8.1.2 | Open | No |
E.8.1.3 | Single blind | No |
E.8.1.4 | Double blind | Yes |
E.8.1.5 | Parallel group | Yes |
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) | Yes |
E.8.2.2 | Placebo | No |
E.8.2.3 | Other | No |
E.8.2.4 | Number of treatment arms in the trial | 2 |
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 | 4 |
E.8.5 | The trial involves multiple Member States | Yes |
E.8.5.1 | Number of sites anticipated in the EEA | 36 |
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 |
Argentina |
Austria |
Belgium |
Brazil |
Canada |
Colombia |
Czech Republic |
Denmark |
France |
Germany |
Italy |
Japan |
Korea, Republic of |
Mexico |
Netherlands |
Russian Federation |
Spain |
Sweden |
Switzerland |
Taiwan |
Turkey |
United Kingdom |
United States |
|
E.8.7 | Trial has a data monitoring committee | Yes |
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
|
LVLS |
Última visita del último paciente |
|
E.8.9 Initial estimate of the duration of the trial |
E.8.9.1 | In the Member State concerned years | 4 |
E.8.9.1 | In the Member State concerned months | 3 |
E.8.9.1 | In the Member State concerned days | |
E.8.9.2 | In all countries concerned by the trial years | 4 |
E.8.9.2 | In all countries concerned by the trial months | 3 |