Tuberous Sclerosis ComplexNCT04112537
Dermatologic Patterns of Tuberous Sclerosis Patients and Somatic Mutation Relationship
An observational study of Tuberous Sclerosis Complex, run by University Hospital, Montpellier at 1 site in France.
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… Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Tuberous Sclerosis Complex
- How many people
- 90 participants
- Where
- 1 siteFrance
- Study dates
- 1 Mar 2019to 30 Dec 2020
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients followed in Centre Hospitalier Universtaire of Montpellier for Tuberous Sclerosis
Who may be able to join
- Diagnosis of Tuberous Sclerosis Complex established of confirmed by a geneticin, with a genetic study done or processing, patients accepting to be exanimated
Who cannot join
- None
Trial locations and contacts
1 site in 1 country.
About this study
Official title: 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.
Read more
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
- Medical subject headings
- Tuberous Sclerosis, Neurocutaneous Syndromes
What is being measured
The primary outcome is the main question the study is designed to answer.
Phenotype
Phenotype : Dermatological signs observed
Measured: 1 day
Secondary outcomes (1)
Genotype
Genotype : TSC1, TSC2, mosaicism
Measured: 1day
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted2 Oct 2019
- Study start1 Mar 2019
- Primary completion30 Dec 2019
- Study completion30 Dec 2020 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Tuberous Sclerosis ComplexStudies of the same condition, open and under way.
- More trials run by University Hospital, MontpellierThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Retrospective
- Enrolment
- 90 participants (actual)
Sponsor and investigators
- Lead sponsor
- University Hospital, Montpellier
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Didier BESSIS, PhD, Principal investigator, University Hospitals of Montpellier
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04112537
- Sponsor's protocol ID
- RECHMPL19_0460
- Status last verified
- Mar 2020
- First submitted
- 30 Sep 2019
- Last updated
- 10 Mar 2020
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided: NC
Study at a glance
From the registry record, last updated by the sponsor on 10 Mar 2020. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Dermatologic Clinical Patterns Study of Tuberous Sclerosis Complex Patients Related With Their Somatic Mutation
- ClinicalTrials.gov ID
- NCT04112537
- Acronym / sponsor ID
- RECHMPL19_0460
- Conditions
- Tuberous Sclerosis Complex
- Keywords
- Tuberous Sclerosis Complex, MTOR associated protein, Neurocutaneous Syndromes, High-Throughput Nucleotide Sequencing
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 90 participants (actual)
- Lead sponsor
- University Hospital, MontpellierUniversity, hospital or other
- Study start
- 1 Mar 2019 (actual)
- Primary completion
- 30 Dec 2019 (actual)
- Study completion
- 30 Dec 2020 (estimated)
- First posted
- 2 Oct 2019 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Cohort
- Time perspective
- Retrospective
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients followed in Centre Hospitalier Universtaire of Montpellier for Tuberous Sclerosis
Key inclusion criteria (1 listed)
- Diagnosis of Tuberous Sclerosis Complex established of confirmed by a geneticin, with a genetic study done or processing, patients accepting to be exanimated
Key exclusion criteria (1 listed)
- None
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Phenotype
Time frame: 1 day
Phenotype : Dermatological signs observed
1 secondary outcome
Genotype
Time frame: 1day
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 10 Mar 2020.
- Individual participant dataSharing planned: Undecided. NC
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Didier BESSIS, PhD principal investigator
University Hospitals of Montpellier
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Tuberous Sclerosis Complex, run by University Hospital, Montpellier at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 10 Mar 2020. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Phenotype (time frame: 1 day). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 10 Mar 2020.