E.1 Medical condition or disease under investigation |
E.1.1 | Medical condition(s) being investigated |
Spinal Muscular Atrophy |
Atrofia Muscular Espinal |
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E.1.1.1 | Medical condition in easily understood language |
Spinal Muscular Atrophy |
Atrofia Muscular Espinal |
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E.1.1.2 | Therapeutic area | Diseases [C] - Nervous System Diseases [C10] |
MedDRA Classification |
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 collect long-term follow-up safety and efficacy data in patients with spinal muscular atrophy (SMA) Type 1, Type 2 or Type 3 who were treated with AVXS-101 in an AVXS-101 clinical trial, including but not limited to AVXS-101-CL-102 (Phase 1), AVXS-101-CL-302 (Phase 3), AVXS-101-CL-303 (Phase 3), AVXS-101-CL-304 (Phase 3) or AVXS-101-CL-306 (Phase 3). |
Recopilar datos de seguridad y eficacia del seguimiento a largo plazo en pacientes con atrofia muscular espinal (AME) de tipo 1, tipo 2 o tipo 3 que fueron tratados con AVXS-101 en un ensayo clínico de AVXS-101, incluidos, entre otros, AVXS-101-CL-102 (fase 1), AVXS 101 CL-302 (fase 3), AVXS-101-CL-303 (fase 3), AVXS-101-CL-304 (fase 3) o AVXS 101 CL-306 (fase 3). |
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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 |
> Patients with SMA (with 1, 2 or 3copies of SMN2) who received AVXS-101 gene replacement therapy in an AveXis clinical study
> Patient/parent/legal guardian willing and able to complete the informed consent process and comply with study procedures and visit schedule |
1.Pacientes con AME (con 1, 2 o 3 copias del gen 2 de la supervivencia de las neuronas motoras) que hayan recibido un tratamiento de reemplazo del gen AVXS-101 en un estudio clínico de AveXis.
2.El paciente o su padre/madre/tutor legal debe estar dispuesto y ser capaz de cumplimentar el proceso de consentimiento informado y cumplir con los procedimientos del estudio y el calendario de visitas. |
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E.4 | Principal exclusion criteria |
Parent/legal guardian unable or unwilling to participate in the long-term follow-up safety study |
El paciente o su padre/madre/tutor legal no puede o no está dispuesto a participar en el estudio de seguimiento a largo plazo. |
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E.5 End points |
E.5.1 | Primary end point(s) |
1. Number of participants who reach developmental milestones
2. Change from baseline in Hammersmith Functional Motor Scale - Expanded (HFMSE) score
3. Number of participants who experience a clinically significant change from baseline in pulmonary assessment results
4. Number of participants who experience swallowing dysfunction
5. Number of participants who experience a clinically significant change from baseline in physical examination findings
6. Number of participants who experience a clinically significant change from baseline in vital signs measurements
7. Change from baseline in height measurements
8. Change from baseline in weight measurements
9. Number of participants who experience a clinically significant change from baseline in clinical laboratory assessments
10. Number of participants who experience a clinically significant change from baseline in cardiac assessments
11. Number of participants who experience a clinically significant change from baseline in observational phase questionnaire results
12. Number of participants who experience at least one serious adverse event (SAE)
13. Number of participants who experience at least one adverse event of special interest (AESI) |
1. Número de participantes que alcanzan los hitos de desarrollo
2. Cambio en la escala HFMSE desde visita basal
3. Número de participantes que experimentan un cambio significativo desde el punto de vista clínico en los resultados de las evaluaciones pulmonares desde la visita basal.
4. Número de particpantes que experimental disfunción al tragar
5. Número de participantes que experimentan un cambio significativo desde el punto de vista clínico en los hallazgos en las exploraciones físicas desde la visita basal.
6. Número de participantes que experimental un cambio clínicamente significativo en las constantes vitales desde la visita basal.
7. Cambio desde la visita basal en la medida de altura.
8. Cambio desde la visita basal en la medida de peso.
9. Número de participantes que experimentan un camibo clínicamente significativo en los resultados de laboratorio desde la visita basal.
10. Número de participantes que experimentan un cambio clínicamente significativo en las evaluaciones cardiacas desde la visita basal.
11. Número de participantes que experimentan un cambio clínicamente significativo en los resultados del cuestionario de la fase observacional desde la visita basal.
12. Número de participantes que experimentan al menos un acontecimiento adverso grave.
13. Número de participantes que experimentan al menos un acontecimiento adverso de especial interés.
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E.5.1.1 | Timepoint(s) of evaluation of this end point |
1. Up to 5 years
2. Up to 2 years
3. Up to 15 years
4. Up to 5 years
5. Up to 5 years
6. Up to 5 years
7. Up to 5 years
8. Up to 5 years
9. Up to 5 years
10. Up to 5 years
11. Year 6 to Year 15
12. Up to 15 years
13. Up to 15 years |
1. Hasta 5 años
2. Hasta 2 años
3. Hasta 15 años
4. Hasta 5 años
5. Hasta 5 años
6. Hasta 5 años
7. Hasta 5 años
8. Hasta 5 años
9. Hasta 5 años
10. Hasta 5 años
11. Del año 6 al año 15
12. Hasta 15 años
13. Hasta 15 años
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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 | No |
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 | 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 | No |
E.8.1.1 | Randomised | No |
E.8.1.2 | Open | No |
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 | Yes |
E.8.1.7.1 | Other trial design description |
Estudio de seguimiento a largo plazo sin producto en investigación |
Long term follow up study without IMP |
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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.8.3 |
The trial involves single site in the Member State concerned
| Yes |
E.8.4 | The trial involves multiple sites in the Member State concerned | No |
E.8.5 | The trial involves multiple Member States | Yes |
E.8.5.1 | Number of sites anticipated in the EEA | 11 |
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 |
Australia |
Belgium |
Canada |
France |
Italy |
Japan |
Korea, Republic of |
Spain |
Taiwan |
United Kingdom |
United States |
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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
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LVLS |
Última Visita del Último Paciente |
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E.8.9 Initial estimate of the duration of the trial |
E.8.9.1 | In the Member State concerned years | 15 |
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 | 15 |
E.8.9.2 | In all countries concerned by the trial months | 0 |
E.8.9.2 | In all countries concerned by the trial days | 0 |