- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT04112537
Dermatologic Patterns of Tuberous Sclerosis Patients and Somatic Mutation Relationship
Dermatologic Clinical Patterns Study of Tuberous Sclerosis Complex Patients Related With Their Somatic Mutation
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 Overview
Status
Conditions
Study Type
Enrollment (Actual)
Contacts and Locations
Study Locations
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Montpellier, France, 34295
- UH Montpellier
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Participation Criteria
Eligibility Criteria
Ages Eligible for Study
- Child
- Adult
- Older Adult
Accepts Healthy Volunteers
Genders Eligible for Study
Sampling Method
Study Population
Description
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
Study Plan
How is the study designed?
Design Details
- Observational Models: Cohort
- Time Perspectives: Retrospective
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Phenotype
Time Frame: 1 day
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Phenotype : Dermatological signs observed
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1 day
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Secondary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Genotype
Time Frame: 1day
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Genotype : TSC1, TSC2, mosaicism
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1day
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Collaborators and Investigators
Sponsor
Investigators
- Principal Investigator: Didier BESSIS, PhD, University Hospitals of Montpellier
Study record dates
Study Major Dates
Study Start (Actual)
Primary Completion (Actual)
Study Completion (Anticipated)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Actual)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Keywords
Additional Relevant MeSH Terms
- Pathologic Processes
- Nervous System Diseases
- Neoplasms
- Congenital Abnormalities
- Genetic Diseases, Inborn
- Neurodegenerative Diseases
- Heredodegenerative Disorders, Nervous System
- Neoplastic Syndromes, Hereditary
- Malformations of Cortical Development, Group I
- Malformations of Cortical Development
- Nervous System Malformations
- Neurocutaneous Syndromes
- Hamartoma
- Neoplasms, Multiple Primary
- Sclerosis
- Tuberous Sclerosis
Other Study ID Numbers
- RECHMPL19_0460
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
IPD Plan Description
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Studies a U.S. FDA-regulated device product
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