NCT06711510Withdrawn
Predict to Prevent PGRN Disease
Source: ClinicalTrials.gov · Last updated 21 Mar 2025
Brief summary (registry, in English)
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.
- Status (registry)
- Withdrawn
- Study type
- Interventional
- Enrollment
- 0 (actual)
- First submitted
- 21 Nov 2024
- Start date
- Jan 2025
- Primary completion date
- Mar 2030
- Lead sponsor
- Assistance Publique - Hôpitaux de Paris
- NCT number
- NCT06711510
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Age
- 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.
Other
- For asymptomatic at-risk individuals :
- Peaple under legal protection
Who the study is looking for
- 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)
Age in the registry: 18 years to - · Sex: All · Does not accept healthy volunteers
This page is information, not medical advice. Discuss any trial with your doctor.