E.1 Medical condition or disease under investigation |
E.1.1 | Medical condition(s) being investigated |
Autosomal Dominant Alzheimer's Disease |
Malattia di Alzheimer di tipo autosomico dominante |
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E.1.1.1 | Medical condition in easily understood language |
Familial Alzheimer's Disease, i.e. due to genetic mutation in the APP, PSEN1, or PSEN2 gene. |
Forme familiari di malattia di Alzheimer, cioè causate da una mutazione genetica in uno dei geni tra APP, PSEN1, PSEN2 |
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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 | 17.0 |
E.1.2 | Level | LLT |
E.1.2 | Classification code | 10001896 |
E.1.2 | Term | Alzheimer's disease |
E.1.2 | System Organ Class | 100000004852 |
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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 |
The objective of this study is to demonstrate the feasibility of F18 amyloid imaging in the context of multidimensional clinical, imaging, and biomarker collection in subjects coming from families with autosomal dominant AD |
Testare la fattibilità di implementare un protocollo standardizzato per l’acquisizione dell’esame PET con Florbetapir in soggetti appartenenti a famiglie con malattia di Alzheimer di tipo autosomico dominante, all’interno di uno studio multi-centrico italiano volto a raccogliere marcatori clinici e strumentali (imaging e biologici) di malattia |
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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 |
• Age≥18; • Member of a family with a known mutation for autosomal dominant AD and aware of his/her genetic status: either an affected mutation carrier with a diagnosis of AD or a consanguineous of an affected mutation carrier who is a pre-symptomatic mutation carrier; • Willing and able to provide written Informed Consent to the study; • Have an identified informant (minimum of one), not consanguineous, who can serve as a collateral source for the ItalianDIAfN study. |
- Età maggiore o uguale a 18 anni - Soggetti sintomatici portatori di una mutazione causativa della malattia di Alzheimer, a conoscenza del proprio stato genetico - Soggetti asintomatici portatori di una mutazione causativa della malattia di Alzheimer, a conoscenza del proprio stato genetico - Essere in grado di fornire il consenso informato - Abbia identificato un informatore (almeno 1) non consanguineo, che possa servire da fonte collaterale per lo studio |
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E.4 | Principal exclusion criteria |
• Is a cognitively normal non mutation carrier, consanguineous of an affected subject carrying a mutation for Alzheimer's Disease; • Is not able / not willing to provide written Informed Consent; • Has a medical or psychiatric illness that would interfere in completing the assessment; • Suffers from claustrophobia; • Has ever participated in an experimental study with an amyloid targeting agent (e.g. anti-amyloid immunotherapy, γ-secretase or γ-secretase inhibitor) unless it can be documented that the subject received only placebo during the course of the trial; • Is receiving any investigational medications, or have participated in a trial with investigational medications within the last 30 days; • Is woman of childbearing potential not surgically sterile and not refraining from sexual activity. Women of childbearing potential must not be pregnant (negative urine β-hCG at the time of screening and negative urine β-hCG on the day of imaging) or breast feeding at screening. Women must avoid becoming pregnant in the 10 days prior to the PET scan and for 24 hours after administration of florbetapir (18F). Men must avoid pregnancy with a female partner for 24 hours after administration of florbetapir (18F).
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- Soggetti asintomatici non portatori di mutazione causativa per la malattia di Alzheimer - Soggetti non in grado di fornire un consenso informato - Presenza di condizione medica o psichiatrica che interferirebbe con le valutazioni - Claustrofobia - Assunzione di un farmaco sperimentale o partecipazione a una sperimentazione con farmaci sperimentali negli ultimi 30 giorni - Partecipazione a uno studio sperimentale con una terapia anti-amiloide (ad es. immunoterapia anti-amiloide, inibitore della γ- o β-secretasi), a meno che si possa dimostrare che il soggetto ha ricevuto soltanto il placebo nel corso della sperimentazione - Donne potenzialmente fertili che non sono chirurgicamente sterili e che non garantiscono di non astenersi dall’attività sessuale per le 24 ore successive alla somministrazione del radiotracciante fluorinato. Le donne potenzialmente fertili non devono essere in stato di gravidanza (β- hCG urinaria negativa al momento dello screening e β-hCG urinaria negativa nel giorno della PET) o allattare al momento dello screening. Le donne in età fertile devono impegnarsi a non intraprendere una gravidanza nei 10 giorni precedenti alla scansione PET e durante le 24 ore successive alla stessa. Gli uomini che partecipano allo studio dovranno impegnarsi a non far intraprendere una gravidanza alla partner, garantendo l’astensione dai rapporti sessuali per le 24 ore successive alla somministrazione del radiotracciante fluorinato.
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E.5 End points |
E.5.1 | Primary end point(s) |
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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) |
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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 | 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 | Yes |
E.6.13.1 | Other scope of the trial description |
Feasibility study in rare condition (autosomal dominant AD) |
Studio di fattibilità in popolazione rara (Malattia di Alzheimer di tipo autosomico dominante) |
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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 | 11 |
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 | 1 |
E.8.9.1 | In the Member State concerned months | 6 |
E.8.9.1 | In the Member State concerned days | 0 |