Dermatologic Patterns of Tuberous Sclerosis Patients and Somatic Mutation Relationship

Tuberous Sclerosis Complex Clinical Trial

Official title:

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

Clinical Trial Details — Status: Active, not recruiting

Administrative data

• NCT number: NCT04112537
• Other study ID #: RECHMPL19_0460
• Status: Active, not recruiting
• Start date: March 1, 2019
• Est. completion date: December 30, 2020

Study information

• Verified date: March 2020
• Source: University Hospital, Montpellier
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Active, not recruiting
• Enrollment: 90
• Est. completion date: December 30, 2020
• Est. primary completion date: December 30, 2019
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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

Related Conditions & MeSH terms

• Sclerosis
• Tuberous Sclerosis
• Tuberous Sclerosis Complex

Locations

Country	Name	City	State
France	Uh Montpellier	Montpellier

Sponsors (1)

Lead Sponsor	Collaborator
University Hospital, Montpellier

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Phenotype	Phenotype : Dermatological signs observed	1 day
Secondary	Genotype	Genotype : TSC1, TSC2, mosaicism	1day