E.1 Medical condition or disease under investigation |
E.1.1 | Medical condition(s) being investigated |
Alzheimer disease |
Enfermedad de Alzheimer |
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E.1.1.1 | Medical condition in easily understood language |
Alzheimer disease |
Enfermedad de Alzheimer |
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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 | No |
E.2 Objective of the trial |
E.2.1 | Main objective of the trial |
1. To evaluate the safety profile after a dose of FDG and GDP for the realization of PET in individuals with genetic risk of autosomal dominant Alzheimer's disease. 2. To determine the frequency, extent and severity of alterations in PET patterns with FDG and PIB, MR parameters, biochemical and cognitive markers in subjects carrying mutations causing genetic Alzheimer's disease with respect to their non-carrier pairs. |
1. Evaluar el perfil de seguridad tras una dosis de FDG y PIB para la realización de un PET en individuos con riesgo genético de enfermedad de Alzheimer autosómica dominante. 2. Determinar la frecuencia, extensión y severidad de las alteraciones en patrones de PET con FDG y PIB, parámetros de RM, marcadores bioquímicos y congnitivos en sujetos portadores de mutaciones causantes de enfermedad de Alzheimer genética respecto a sus pares no portadores. |
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E.2.2 | Secondary objectives of the trial |
1. Participate in the DIAN international multicentre registry of biological adult children of a parent affected by an APP, PSEN1 or PSEN2 mutation causing autosomal dominant Alzheimer's disease and evaluate the participants with a standardized protocol (DIAN) biannually. 2. Contribute to the collection of data as well as participate in the repository of biological samples to promote research in autosomal dominant Alzheimer's and analysis in several domains. 3. Identify new diagnostic and prognostic biomarkers. |
1. Participar en el registro multicéntrico internacional DIAN de hijos adultos biológicos de un progenitor afecto por una mutación APP, PSEN1 o PSEN2 causante de la enfermedad de Alzheimer autosómica dominante y evaluar a los participantes con un protocolo uniformizado (DIAN) bianualmente. 2. Contribuir a la recogida de datos así como participar en el repositorio de muestras biológicas para fomentar la investigación en Alzheimer autosómico dominante y el análisis en varios dominios. 3. Identificar nuevos biomarcadores diagnósticos y pronósticos. |
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E.2.3 | Trial contains a sub-study | No |
E.3 | Principal inclusion criteria |
1. Signature of informed consent by the participant and companion of the study before carrying out any procedure related to the study 2. Age ≥ 18 years and the child of an individual affected (clinically or by tests) of genetic Alzheimer's disease in a pedigree with a known mutation causing genetic Alzheimer's disease. 3. Cognitively normal (Clinical dementia Rating scale, CDR = 0) or with cognitive impairment in mild phase (CDR 0.5 or 1). 4. The participant has identified two people who are not their blood siblings who can serve as companions to the study. 5. Sufficient knowledge of the Castilian language (equivalent to 6th grade of primary school). |
1. Firma del consentimiento informado por parte del participante y acompañante del estudio antes de realizar cualquier procedimiento relacionado con el estudio 2. Edad ≥ 18 años e hijo de un individuo afectado (clínicamente o por pruebas) de enfermedad de Alzheimer genético en un pedigrí con una mutación conocida causante de enfermedad de Alzheimer genético. 3. Cognitivamente normal (Clinical dementia Rating scale, CDR = 0) o con deterioro cognitivo en fase leve (CDR 0.5 or 1). 4. El participante ha identificado a dos personas que no son sus hermanos de sangre que pueden servir como acompañantes del estudio. 5. Conocimiento suficiente de la lengua castellana (equivalente a 6º de primaria). |
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E.4 | Principal exclusion criteria |
1. The participant has a medical or psychiatric illness that would interfere according to clinical criteria in the initial evaluation and / or follow-up evaluations. 2. The participant has an advanced cognitive impairment that requires admission to a long-term care center. 3. The recruitment of a subject with cognitive impairment must be pre-approved by the Coordinating Group of DIAN. 4. Women who are pregnant or breast-feeding or who have planned to become pregnant during the study period |
1. El participante tiene una enfermedad médica o psiquiátrica que interferiría según criterio clínico en la evaluación inicial y/o evaluaciones de seguimiento. 2. El participante tiene un deterioro cognitivo avanzado que requiere ingreso en un centro asistencial de larga estancia. 3. El reclutamiento de un sujeto con deterioro cognitivo debe ser pre-aprobado por la Grupo Coordinador de DIAN. 4. Mujeres embarazadas o en periodo de lactancia o que hayan planeado quedarse embarazadas durante el periodo del estudio |
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E.5 End points |
E.5.1 | Primary end point(s) |
1. Incidence of adverse events after administration of a dose of [18F] FDG and [11C] PIB in individuals at risk of genetic Alzheimer's disease. 2. Proportion of carriers of mutations causing genetic Alzheimer's disease that present alterations in FDG-PET, PIB-PET, MRI and in biochemical markers with respect to non-carrier pairs |
1. Incidencia de acontecimientos adversos tras la administración de una dosis de [18F]FDG y de [11C]PIB en individuos con riesgo de enfermedad de Alzheimer genético. 2. Proporción de portadores de mutaciones causantes de enfermedad de Alzheimer genético que presentan alteraciones en el FDG-PET, PIB-PET, RM y en marcadores bioquímicos respecto a pares no portadores |
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E.5.1.1 | Timepoint(s) of evaluation of this end point |
At any time during the follow-up (up to 36 months) |
En cualquier momento durante el seguimiento (hasta 36 meses) |
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E.5.2 | Secondary end point(s) |
1. Relative age at which each marker begins to show pathological values in mutation carriers with respect to non-carrier pairs. 2. Magnitude of longitudinal change in each of the biomarkers studied. |
1. Edad relativa a la que cada marcador empieza a mostrar valores patológicos en portadores de mutación respecto a pares no portadores. 2. Magnitud de cambio longitudinal en cada uno de los biomarcadores estudiados. |
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E.5.2.1 | Timepoint(s) of evaluation of this end point |
At any time during the follow-up (up to 36 months) |
En cualquier momento durante el seguimiento (hasta 36 meses) |
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E.6 and E.7 Scope of the trial |
E.6 | Scope of the trial |
E.6.1 | Diagnosis | Yes |
E.6.2 | Prophylaxis | No |
E.6.3 | Therapy | No |
E.6.4 | Safety | No |
E.6.5 | Efficacy | No |
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 | No |
E.8.1.1 | Randomised | Yes |
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) | Information not present in EudraCT |
E.8.2.2 | Placebo | Information not present in EudraCT |
E.8.2.3 | Other | Information not present in EudraCT |
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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E.8.9 Initial estimate of the duration of the trial |
E.8.9.1 | In the Member State concerned years | 3 |
E.8.9.1 | In the Member State concerned months | 0 |
E.8.9.1 | In the Member State concerned days | 0 |