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Dermatologic Patterns of Tuberous Sclerosis Patients and Somatic Mutation Relationship

NCT04112537 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 90

Last updated 2020-03-10

No results posted yet for this study

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.

Conditions

  • Tuberous Sclerosis Complex

Sponsors & Collaborators

  • University Hospital, Montpellier

    lead OTHER

Principal Investigators

  • Didier BESSIS, PhD · University Hospitals of Montpellier

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2019-03-01
Primary Completion
2019-12-30
Completion
2020-12-30

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04112537 on ClinicalTrials.gov