Status:
COMPLETED
Natural History Characterization in Symptomatic and Asymptomatic Progranuline Gene Mutation Carriers
Lead Sponsor:
Assistance Publique - Hôpitaux de Paris
Conditions:
Frontotemporal Lobar Degeneration
Eligibility:
All Genders
18+ years
Phase:
NA
Brief Summary
The purpose of this study is to investigate whether cognitive deficits, structural and functional changes can be detected before symptom onset in presymptomatic progranuline mutation carriers. The mai...
Detailed Description
The project focuses on the progranulin (PGRN) gene mutation, one of the most frequent genetic forms of frontotemporal dementias (FTD, or frontotemporal lobar degeneration, FTLD). FTD is the second com...
Eligibility Criteria
Inclusion
- Inclusion criteria for symptomatic patients:
- Age ≥ 18
- Signed informed consent for genetic and clinical study
- To be carrier of a PGRN mutation - Diagnosis criteria of FTD
- To be affiliated to the social security scheme
- Inclusion criteria for 'at-risk' asymptomatic relatives:
- Age ≥ 18
- To be first degree relative of a person carrying a PGRN mutation or first degree relative of FTD deceased patient whose PGRN mutation as been identified in the family
- Signed informed consent for genetic and clinical study
- To be affiliated to the social security scheme
Exclusion
- Exclusion criteria for symptomatic patients:
- Presence of one exclusion criteria from Diagnosis criteria of FTD. - Participation to another therapeutic trial. - Contra-indication to perform a brain MRI and/or PET-FDG
- Inability to lie one hour without moving
- Breastfeeding and pregnant women
- Presence of another intercurrent neurological pathology (vascular cerebral accident, tumor, etc.....)
- Exclusion criteria for 'at-risk' asymptomatic relatives :
- Presence of neurological or neurodegenerative disease
- Clinical proven signs of FTD, language disorder, praxis disorder, mnemic, of parkinson's syndrome or amyotrophic lateral sclerosis
- Contra-indication to perform a brain MRI and/or PET-FDG
- Inability to lie one hour without moving
- Breastfeeding and pregnant women
- Severe vascular lesion , tumor or infectious brain imaging if an MRI was done previously
Key Trial Info
Start Date :
January 19 2010
Trial Type :
INTERVENTIONAL
Allocation :
ACTUAL
End Date :
October 6 2022
Estimated Enrollment :
78 Patients enrolled
Trial Details
Trial ID
NCT04014673
Start Date
January 19 2010
End Date
October 6 2022
Last Update
December 24 2024
Active Locations (2)
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1
Groupe Hospitalier Pitié-Salpêtrière - Charles Foix
Paris, France, 75013
2
Pitié Salpetriere Hospital
Paris, France, 75013