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Dermatologic Patterns of Tuberous Sclerosis Patients and Somatic Mutation Relationship

Sponsor
University Hospital, Montpellier (Other)
Overall Status
Unknown status
CT.gov ID
NCT04112537
Collaborator
(none)
90
Enrollment
1
Location
22
Anticipated Duration (Months)
4.1
Patients Per Site Per Month

Study Details

Study Description

Brief Summary

Tuberous Sclerosis is a rare genetic disorder that affects about one in 15,000 individuals. It is part of the phacomatoses: a germline mutation of the gene Tuberous Sclerosis Complex 1 (TSC1) or TSC2 causes a protein dysfunction, hamartin and tuberin respectively, leading to mTOR signaling pathway activation, thus tumors rise on the skin but also brain, eyes, kidneys, heart.

Thanks to the advent of sequencing techniques of the human genome, genes involved were found twenty years ago. Most commonly, these are de novo private mutations and autosomal dominant Mendelian transmission. About 15% of patients have a phenotype corresponding to the disease but no mutation is found.

Although the initial clinical description was in 1880, publications regularly describe new signs in Tuberous Sclerosis, especially for skin.

Cutaneous manifestations are important in the diagnostic criteria of the disease and often even the first sign of appeal. However, no data is available on the relationship between genotype and dermatological phenotype.

Therefore the investigator intend to review all cutaneous finding in Tuberous Sclerosis patient and try to link with their mutation.

Condition or Disease Intervention/Treatment Phase

    Study Design

    Study Type:
    Observational
    Actual Enrollment :
    90 participants
    Observational Model:
    Cohort
    Time Perspective:
    Retrospective
    Official Title:
    Dermatologic Clinical Patterns Study of Tuberous Sclerosis Complex Patients Related With Their Somatic Mutation
    Actual Study Start Date :
    Mar 1, 2019
    Actual Primary Completion Date :
    Dec 30, 2019
    Anticipated Study Completion Date :
    Dec 30, 2020

    Outcome Measures

    Primary Outcome Measures

    1. Phenotype [1 day]

      Phenotype : Dermatological signs observed

    Secondary Outcome Measures

    1. Genotype [1day]

      Genotype : TSC1, TSC2, mosaicism

    Eligibility Criteria

    Criteria

    Ages Eligible for Study:
    N/A and Older
    Sexes Eligible for Study:
    All
    Accepts Healthy Volunteers:
    No
    Inclusion criteria:
    • Diagnosis of Tuberous Sclerosis Complex established of confirmed by a geneticin, with a genetic study done or processing, patients accepting to be exanimated
    Exclusion criteria:
    • None

    Contacts and Locations

    Locations

    Site City State Country Postal Code
    1 Uh Montpellier Montpellier France 34295

    Sponsors and Collaborators

    • University Hospital, Montpellier

    Investigators

    • Principal Investigator: Didier BESSIS, PhD, University Hospitals of Montpellier

    Study Documents (Full-Text)

    None provided.

    More Information

    Publications

    None provided.
    Responsible Party:
    University Hospital, Montpellier
    ClinicalTrials.gov Identifier:
    NCT04112537
    Other Study ID Numbers:
    • RECHMPL19_0460
    First Posted:
    Oct 2, 2019
    Last Update Posted:
    Mar 10, 2020
    Last Verified:
    Mar 1, 2020
    Individual Participant Data (IPD) Sharing Statement:
    Undecided
    Plan to Share IPD:
    Undecided
    Studies a U.S. FDA-regulated Drug Product:
    No
    Studies a U.S. FDA-regulated Device Product:
    No
    Keywords provided by University Hospital, Montpellier
    Tuberous Sclerosis Complex
    MTOR associated protein
    Neurocutaneous Syndromes
    High-Throughput Nucleotide Sequencing
    Additional relevant MeSH terms:
    Tuberous Sclerosis
    Sclerosis

    Study Results

    No Results Posted as of Mar 10, 2020