E.1 Medical condition or disease under investigation |
E.1.1 | Medical condition(s) being investigated |
Patients with Prader-Willi Syndrome (SPW) with Growth hormone deficit. |
Pacientes con síndrome de Prader-Willi con déficit de hormona de crecimiento |
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E.1.1.1 | Medical condition in easily understood language |
Patients with Prader-Willi Syndrome (SPW) with Growth hormone deficit. |
Pacientes con síndrome de Prader-Willi con déficit de hormona de crecimiento |
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E.1.1.2 | Therapeutic area | Diseases [C] - Hormonal diseases [C19] |
MedDRA Classification |
E.1.2 Medical condition or disease under investigation |
E.1.2 | Version | 20.0 |
E.1.2 | Level | PT |
E.1.2 | Classification code | 10036476 |
E.1.2 | Term | Prader-Willi syndrome |
E.1.2 | System Organ Class | 10010331 - Congenital, familial and genetic disorders |
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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 muscle tone with functional magnetic resonance imaging (fMRI) in adult patients undergoing SPW with hormone deficit, before and after 12 months of GH treatment. |
Evaluar el tono muscular mediante resonancia magnética funcional (RMf) en adultos con SPW con déficit de hormona de crecimiento, antes y después de 12 meses de tratamiento con GH. |
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E.2.2 | Secondary objectives of the trial |
1. To assess the effect of GH treatment on the muscle strength before and after 12 months of treatment. 2. To assess the effect of GH treatment on the body composition before and after 12 months of treatment. 3. To study if there are changes on different cognitives aspects before and after 12 months of treatment. 4. To study if there are changes in some of the metabolism regulatory hormones (leptina and kisspeptina) and if they correlate with body composition changes. 5. To study the sleeping architecture, the presence of respiratory sleep disorder and the sleeping quality, before and after 12 months of GH treatment. |
1. Evaluar el efecto del tratamiento con GH sobre la fuerza muscular antes y a los 12 meses de tratamiento. 2. Evaluar el efecto del tratamiento con GH sobre la composición corporal antes y a los 12 meses de tratamiento. 3. Estudiar si hay cambios en diferentes aspectos cognitivos antes y a los 12 m de tratamiento 4. Estudiar si se producen cambios en algunas hormonas reguladoras del metabolismo (leptina y kisspeptina) y si se correlacionan con los cambios en la composición corporal. 5. Estudiar la arquitectura del sueño, la presencia de trastorno respiratorio del sueño y la calidad del sueño, antes y a los 12 m de tratamiento con GH. |
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E.2.3 | Trial contains a sub-study | No |
E.3 | Principal inclusion criteria |
• Patients with PWS ≥ 18 years • Patients who have demonstrated a GH deficiency in at least one of the two GH stimuli tests performed in routine clinical practice • Patients (or their legal guardians if they are legally incapacitated) who have signed informed consent to participate in the study. In the case of patients legally incapacitated, they will give their assent in participating. |
• Pacientes con SPW ≥ 18 años • Pacientes en los que se haya demostrado un déficit de GH en al menos una de estas dos pruebas de estímulo de GH realizadas en la práctica clínica habitual Se considera que existe un déficit de GH si: Pico de GH en prueba de estimulación con GHRH+ arginina: 18 a 25 años: <19 ng/ml >25 años: según IMC. IMC <25: <11 ng/ml IMC 25-30:<8 ng/ml IMC >30: < 4 ng/ml y/o Pico de GH en la prueba de estimulación con glucagón < 3 ng/ml • Pacientes (o sus tutores legales en el supuesto que estén incapacitados legalmente) que hayan firmado su consentimiento informado para participar en el estudio. En el caso de los pacientes incapacitados legalmente, darán su asentimiento en participar. |
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E.4 | Principal exclusion criteria |
• Contraindications for MRI • Inability to stand still during MRI • Impossibility to understand the paradigm to be realized during the MRI • Severe obesity, uncontrolled diabetes, severe untreated obstructive sleep apnea, active cancer and active psychosis • Patients who present any other contraindication to treatment with GH according to the data sheet. • Any circumstance that at the discretion of the physician may pose a risk or clinical harm to the patient's participation in the study or interfere with the assessments of the same. |
• Contraindicaciones para RMf • Imposibilidad de estarse quieto durante la realización de la RMf • Imposibilidad de entender el paradigma a realizar durante la RMf • Obesidad severa, diabetes no controlada, apnea obstructiva grave del sueño no tratada, cáncer activo y psicosis activa • Pacientes que presenten cualquier otra contraindicación para recibir tratamiento con GH según la ficha técnica. • Cualquier circunstancia que a criterio del médico le pueda suponer un riesgo o perjuicio clínico la participación del paciente en el estudio o que interfiera en las valoraciones del mismo. |
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E.5 End points |
E.5.1 | Primary end point(s) |
Muscle tone with functional magnetic resonance imaging (fMRI) |
Tono muscular mediante resonancia magnética funcional (RMf) |
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E.5.1.1 | Timepoint(s) of evaluation of this end point |
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E.5.2 | Secondary end point(s) |
1. Study of muscle strength 2. Study of body composition 3. Study of bone mineral density 4. Mental and cognitive assessment 5. Polysomnography 6. Hormonal study 7. Safety |
1. Estudio de la fuerza muscular 2. Estudio de composición corporal 3. Estudio de densidad mineral ósea 4. Evaluación mental y cognitiva 5. Polisomnografía 6. Estudio hormonal 7. Seguridad |
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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 | 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) | No |
E.7.4 | Therapeutic use (Phase IV) | Yes |
E.8 Design of the trial |
E.8.1 | Controlled | Yes |
E.8.1.1 | Randomised | No |
E.8.1.2 | Open | No |
E.8.1.3 | Single blind | Yes |
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 | Yes |
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
| Yes |
E.8.4 | The trial involves multiple sites in the Member State concerned | No |
E.8.5 | The trial involves multiple Member States | No |
E.8.6 Trial involving sites outside the EEA |
E.8.6.1 | Trial being conducted both within and outside the EEA | No |
E.8.6.2 | Trial being conducted completely outside of the EEA | No |
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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Last patient last visit |
Ultima 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 | |
E.8.9.1 | In the Member State concerned months | |
E.8.9.1 | In the Member State concerned days | |