The Skin as a Window to the Central Nervous System in Frontotempolar Lombar Degeneration
Trial Snapshot
- Phase
- Not Applicable
- Status
- Recruiting
- Sponsor
- Nantes University Hospital
- Enrollment
- 80
- Locations
- 2
- Primary Endpoint
- Amount of Tau assessed by Western blot and qPCR
Study Overview
Brief Summary
Frontotemporal lobar degeneration (FTLD) is a clinically heterogeneous syndrome, characterized by progressive decline in behaviour and/or language. From a pathological standpoint, like the great majority of neurodegenerative disorders, FTLD are proteinopathies, which are characterized by the presence of specific protein deposits in the Central Nervous System (CNS). Accordingly, the two main deposits observed in FTLD are either made of Tau or transactive response DNA binding protein 43 (TDP-43).
In pathological conditions such as FTLD, both proteins are aggregated and hyperphosphorylated.
It is now well established that the pathological process in some proteinopathies such as synucleinopathies (of which Parkinson's disease is the main representative) is not limited to the brain but also widespread throughout the peripheral autonomic networks, including the autonomic innervation of the skin. In this context, many independent studies have shown that the pathological process in PD could be detected using routine punch skin biopsies opening the way for the development of original histopathological markers of the disease.
Our hypothesis is that such a scenario could also occur in FTLDs and that the detection of the pathological tau or TDP-43 protein in the skin could help in diagnosing FTLD. This is especially relevant as, despite the recent progress in genetics, neurobiology and neuroimaging, there are no available biomarkers for FTLD.
Detailed Description
Participant with Frontotemporal Lobar degeneration equally distributed into behavioral variant of frontotemporal dementia (bvFTD), language variant with primary progressive aphasia (PPA) and motor presentations with atypical parkinsonian disorders (corticobasal degeneration-CBD and progressive supranuclear palsy-PSP) and motoneuron disorder (amyotrophic lateral sclerosis -ALS) will be included at Nantes University Hospital during a period of 24 months.
Healthy volunteers will be included as comparative group. A skin biopsy and venous blood samples will be collected for all participants.
Study Design
- Study Type
- Interventional
- Allocation
- Na
- Intervention Model
- Single Group
- Primary Purpose
- Other
- Masking
- None
Eligibility Criteria
- Ages
- 50 Years to 75 Years (Adult, Older Adult)
- Sex
- All
- Accepts Healthy Volunteers
- Yes
Inclusion Criteria
- Not provided
Exclusion Criteria
- Not provided
Outcomes
Primary Outcomes
Amount of Tau assessed by Western blot and qPCR
Time Frame: Day of inclusion
assessed by Western blot and qPCR to determine level of expression of Tau in the skin
Amount of TDP 43
Time Frame: Day of inclusion
assessed by Western blot and qPCR to determine level of expression of TDP-43 in the skin
Secondary Outcomes
- Amount of TDP 43 phosphorylation(Day of inclusion)
- FTLD mutation(before inclusion)
- Neuropsychological characterization(day of inclusion for patients vFTD, PPA and corticobasal degeneration-CBD and progressive supranuclear palsy-PSP within 12 months of inclusion for patients ALS)
- Amount of Tau phosphorylation(Day of inclusion)
- Behaviour profile(day of inclusion for patients vFTD, PPA and corticobasal degeneration-CBD and progressive supranuclear palsy-PSP within 12 months of inclusion for patients ALS)