The Skin as a Window to the Central Nervous System in Frontotempolar Lombar Degeneration

NCT ID: NCT06490822

Last Updated: 2024-12-20

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Clinical Phase

NA

Total Enrollment

80 participants

Study Classification

INTERVENTIONAL

Study Start Date

2024-12-17

Study Completion Date

2027-07-31

Brief Summary

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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

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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.

Conditions

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Frontotemporal Lobar Degeneration

Keywords

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FTLD tau TDP43 skin biopsy

Study Design

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Allocation Method

NA

Intervention Model

SINGLE_GROUP

Primary Study Purpose

OTHER

Blinding Strategy

NONE

Study Groups

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Single arm study

A single 3 mm-diameter punch skin biopsy will be obtained from FTLD patients and healthy volunteers at the C8 paravertebral under local anesthesia to analyze cutaneous innervation

Group Type OTHER

Skin biopsy

Intervention Type PROCEDURE

A single 3 mm-diameter punch skin biopsy will be obtained from FTLD patients and healthy volunteers at the C8 paravertebral under local anesthesia to analyze cutaneous innervation

Interventions

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Skin biopsy

A single 3 mm-diameter punch skin biopsy will be obtained from FTLD patients and healthy volunteers at the C8 paravertebral under local anesthesia to analyze cutaneous innervation

Intervention Type PROCEDURE

Eligibility Criteria

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Inclusion Criteria

* Adressed or followed at memory clinic or ALS expert center at Nantes university hospital.
* Aged 50-75 years
* Fulfilling current diagnosis criteria for one of the disorder: vcfFTD, non-Alzheimer PPA (semantic or non fluent), DCB or PSP,ALS
* MMSE ≥ 18
* Membership of social security scheme


* No history of neurological disease, diabetes, or alteration/damage of peripheral nervous system
* Aged 50-75 years Paired to at least one patient on age (less or more 5 years)
* MOCA ≥ 26
* Membership of social security scheme


* Concomitting conditions affecting the peripheral nervous system such as but not limited to diabetes, renal failure, thyroid disorder, vitamin B12 deficiency, acute and chronic inflammatory diseases HIV, syphilis
* Know allergy to local anesthetic
* Known coagulopathy
* Pregnant women or breastfeeding women
* Person under court protection sous sauvegarde de justice
* Person under guardianship
* Inability to sign an informed consent



• Evidence of neurological disorder at the inclusion including but not limted to FTLD, Parkinson disease, Alzheimer disease, lewy body dementia, Huntington disease, systemic lupus erythematosus multiple sclerosis; learning disabilities, mental retardation, severe hypoxic brain injuries, brain trauma with permanent cognitive impairments.
Minimum Eligible Age

50 Years

Maximum Eligible Age

75 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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Nantes University Hospital

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Locations

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Nantes University Hospital

Nantes, , France

Site Status RECRUITING

Countries

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France

Central Contacts

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Claire BOUTOLEAU-BRETONNIERE, MD

Role: CONTACT

Phone: 02 40 16 54 22

Email: claire.boutoleaubretonniè[email protected]

pascal DERKINDEREN, Pr

Role: CONTACT

Phone: 02 40 16 54 22

Email: [email protected]

Facility Contacts

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Claire BOUTOLEAU BRETONNIERE, MD

Role: primary

Other Identifiers

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RC23_0575

Identifier Type: -

Identifier Source: org_study_id