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Predict to Prevent PGRN Disease

NCT06711510 · Status: WITHDRAWN · Phase: NA · Type: INTERVENTIONAL

Last updated 2025-03-21

No results posted yet for this study

Summary

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.

Conditions

  • Frontotemporal Dementia (FTD)
  • GRN Related Frontotemporal Dementia

Interventions

OTHER

Clinical, behavioral and cognitive evaluation

Questionnaries and tests

OTHER

blood sampling

blood sampling (56ml max)

OTHER

brain MRI

brain MRI (35 to 70 minutes)

OTHER

olfactory swab sampling with nasal brush

olfactory swab sampling with nasal brush

OTHER

skin punch biopsy

skin punch biopsy (optional intervention)

OTHER

lumbar puncture for CSF sampling

lumbar puncture for CSF sampling (optional intervention)

Sponsors & Collaborators

  • Assistance Publique - Hôpitaux de Paris

    lead OTHER

Study Design

Allocation
NA
Purpose
OTHER
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
18 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2025-01-31
Primary Completion
2030-03-31
Completion
2030-03-31

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06711510 on ClinicalTrials.gov