NCT06711510Visszavonva
Predict to Prevent PGRN Disease
Forrás: ClinicalTrials.gov · Utoljára frissítve: 2025. márc. 21.
Rövid összefoglaló (regiszter, angolul)
Progranulin (GRN or PGRN) mutations are among the most common genetic causes of frontotemporal lobar degeneration (FTLD). With the advent of gene-specific therapeutic interventions, an accurate knowledge of the presymptomatic phase of the disease is of utmost importance. Increases of plasma neurofilament light chain (NfL) levels are good predictors of phenoconversion in presymptomatic carriers. However their increase rates remain partially elucidated insofar, with many confounding factors. Another point which deserves further precision is the definition of the biological onset of the disease, via the identification of markers of intraneuronal accumulation of TDP-43 protein. PREVENT-PGRN aims aims at studying the trajectory of plasma NfL changes in presymptomatic GRN mutation carriers in comparison with healthy controls, in partnership with the GENFI-QBS study. Additionally, other disease-related biomarkers, namely associated with TDP-43 pathology, will be investigated in this study, at the presymptomatic and clinical phase.
- Állapot (regiszter)
- Visszavonva
- Vizsgálattípus
- Beavatkozással járó
- Résztvevők száma
- 0 (tényleges)
- Első benyújtás
- 2024. nov. 21.
- Kezdés
- 2025. jan.
- Elsődleges befejezés
- 2030. márc.
- Fő szponzor
- Assistance Publique - Hôpitaux de Paris
- NCT-szám
- NCT06711510
Ki nem vehet részt
Szó szerint a(z) ClinicalTrials.gov forrásból, témák szerint csoportosítva. Hogy ki vehet részt, azt csak a vizsgálat csapata dönti el.
Életkor
- For all :
- any contraindication to brain MRI (pace-maker, ferromagnetic heart valve, aneurysm clips or any other ferromagnetic foreign body implanted in brain/eye or other critical locations, non-MRI compatible intrauterine devices, claustrophobia)
- chronic alcohol use / addiction
- known chronic kidney disease
- hypersensitivity to local anaesthetics
- impossibility of laying down for 1 hour without moving
- pregnant of breastfeeding women, or any beta-HCG positive test for women in childbearing age N.B.: participation in therapeutic essays is not an exclusion criteria, but should be discussed with the study investigator in every case.
Egyéb
- For asymptomatic at-risk individuals :
- Peaple under legal protection
Kiket keres a vizsgálat
- For all :
- signature of informed consent for the study
- being French speaker
- having social security coverage
- absence of any other neurological disease
- For asymptomatic at-risk individuals :
- being first-degree relative of a GRN mutation carrier OR of a patient suffering from FTD with discovery of a GRN mutation in their family
- absence of any neurological troubles related to the disease
- For patients :
- being carrier of a pathogenic GRN mutation
- diagnosis of behavioural-variant frontotemporal dementia according to Rasckvsky et al. criteria (2011) or any related clinical syndromes, such as primary progressive aphasia according to Gorno-Tempini et al. criteria (2011)
Életkor a regiszterben: 18 év – - · Nem: nők és férfiak · Egészséges önkénteseket nem fogad
Ez az oldal tájékoztatás, nem orvosi tanács. Bármely vizsgálatról az orvosoddal beszélj.