Dermatologic Patterns of Tuberous Sclerosis Patients and Somatic Mutation Relationship

NCT04112537 | Unknown

• 1 other identifier: RECHMPL19_0460
• Study Type: observational
• Target: 90
• Locations: 1 country
• Sites: 1

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.

Conditions

Tuberous Sclerosis Complex

Keywords

Tuberous Sclerosis Complex; MTOR associated protein; Neurocutaneous Syndromes; High-Throughput Nucleotide Sequencing

Outcome Measures

Primary Outcomes (1)

• Phenotype

  Phenotype : Dermatological signs observed

  1 day

Secondary Outcomes (1)

• Genotype

  1day

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Patients followed in Centre Hospitalier Universtaire of Montpellier for Tuberous Sclerosis

You may qualify if:

• \- Diagnosis of Tuberous Sclerosis Complex established of confirmed by a geneticin, with a genetic study done or processing, patients accepting to be exanimated

You may not qualify if:

• \- None

Sponsors & Collaborators

• University Hospital, Montpellier: lead

Study Sites (1)

Uh Montpellier

Montpellier, 34295, France

Location

MeSH Terms

Conditions

Tuberous Sclerosis; Neurocutaneous Syndromes

Condition Hierarchy (Ancestors)

Hamartoma; Neoplasms; Neoplasms, Multiple Primary; Neoplastic Syndromes, Hereditary; Malformations of Cortical Development, Group I; Malformations of Cortical Development; Nervous System Malformations; Nervous System Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn; Ectodermal Dysplasia; Abnormalities, Multiple; Skin Abnormalities; Skin Diseases, Genetic; Skin Diseases; Skin and Connective Tissue Diseases

Study Officials

• Didier BESSIS, PhD

  University Hospitals of Montpellier

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 30, 2019
• First Posted: October 2, 2019
• Study Start: March 1, 2019
• Primary Completion: December 30, 2019
• Study Completion: December 30, 2020
• Last Updated: March 10, 2020

Record last verified: 2020-03

Locations

FR (1)