Dermatologic Patterns of Tuberous Sclerosis Patients and Somatic Mutation Relationship

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Brief Title

Dermatologic Patterns of Tuberous Sclerosis Patients and Somatic Mutation Relationship

Official Title

Dermatologic Clinical Patterns Study of Tuberous Sclerosis Complex Patients Related With Their Somatic Mutation

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.
    



Study Type

Observational


Primary Outcome

Phenotype

Secondary Outcome

 Genotype

Condition

Tuberous Sclerosis Complex



Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information



Estimated Enrollment

90

Start Date

March 1, 2019

Completion Date

December 30, 2020

Primary Completion Date

December 30, 2019

Eligibility Criteria

        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
      

Gender

All

Ages

N/A - N/A

Accepts Healthy Volunteers

No

Contacts

Didier BESSIS, PhD, , 

Location Countries

France

Location Countries

France

Administrative Informations


NCT ID

NCT04112537

Organization ID

RECHMPL19_0460


Responsible Party

Sponsor

Study Sponsor

University Hospital, Montpellier


Study Sponsor

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


Verification Date

March 2020