Hypomelanotic MaculesTuScComNCT02654340
Biomarkers for Tuberous Sclerosis Complex (BioTuScCom)
An observational study of Hypomelanotic Macules and Facial Angiofibroma, run by CENTOGENE GmbH Rostock at 8 sites in 8 countries.
Trial summary
International, multicenter, observational, longitudinal study to identify biomarker/s for Tuberous Sclerosis Complex and to explore the clinical robustness, specificity, and long´-term variability of these biomarker/s Read more about this study
- Who is it for?
- Ages 2 to 50 years
- Conditions the study is for
- Hypomelanotic Macules, Facial Angiofibroma, Shagreen Patches
- How many people
- 20 participants
- Where
- 8 sitesin 8 countries
- Study dates
- 1 Aug 2018to 30 Dec 2022
- 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 2 to 50 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: Participants with Tuberous Sclerosis Complex (TSC)
Who may be able to join
- Informed consent is obtained from the participant or from the parent / legal guardian
- Participant is aged between 2 and 50 years
- Diagnosis of TSC is genetically confirmed by CENTOGENE
Who cannot join
- Inability to provide informed consent
- Participant is younger than 2 or older than 50 years
- Diagnosis of TSC is not genetically confirmed by CENTOGENE
Trial locations and contacts
8 sites in 8 countries.
8 sites in 8 countries
Egypt1 site
Department of Pediatrics, Alexandria University Children's Hospital
Alexandria, 21131
Georgia1 site
Departmnet of Molecular and Medical Genetics, Tbilisi State Medical University
Tbilisi, 0177
India1 site
Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Centre
Kochi, Kerala, 682041
Lithuania1 site
Rare diseases coordinating centre, Vilnius University Hospital Santaros klinikos
Vilnius
Pakistan1 site
Departmnet of Pediatric Gastroenterology and Hepatology, The Children's Hospital and Institute of Child Health
Lahore, 54600
Romania1 site
Emergency Hospital for Children "Louis Turcanu"
Timișoara, 300011
About this study
Official title: Biomarkers for Tuberous Sclerosis Complex: An International Multicenter Observational Longitudinal Protocol
International, multicenter, observational, longitudinal study to identify biomarker/s for Tuberous Sclerosis Complex and to explore the clinical robustness, specificity, and long´-term variability of these biomarker/s
Read the detailed description
Tuberous Sclerosis Complex (TSC) is an autosomal dominant genetic disorder characterized by the growth of numerous tumors in different body parts related to dysregulation of the mechanistic target of rapamycin (mTOR) pathway. The overall incidence of TSC is estimated to be as high as 1 in 6000 to 10,000 live birth.The main aspects of TSC that influence the quality of life are associated with the brain: seizures, evelopmental delay, intellectual disability, and autism. However, the incidence and severity of the various aspects of TSC can vary widely.
TSC is generally caused by pathogenic variants in the tumor suppressor genes: TSC1 and TSC2. Confirmation of a clinical diagnosis of tuberous sclerosis is performed via TSC1 and TSC2 sequencing.
There is no cure for TSC, therefore symptomatic therapy is the best possible choice, including mTOR inhibitors, vigabatrin and other antiepileptic drugs for the seizures, and neurosurgery in cases of life-threatening neurological symptoms.
The aim of the study is established TSC specific biomarker/s. Such biomarkers aim to facilitate the diagnosis, treatment personalization and monitoring.
- Conditions
- Hypomelanotic Macules, Facial Angiofibroma, Shagreen Patches, Ungual Fibromas, Cortical Dysplasia, Cardiac Rhabdomyoma
- Keywords
- Tuberous sclerosis complex, Biomarker
- Medical subject headings
- Tuberous Sclerosis, Malformations of Cortical Development, Lymphangioleiomyomatosis, Angiomyolipoma, Astrocytoma
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Participants with Tuberous Sclerosis Complex (TSC) | Üarticipants diagnosed with Tuberous Sclerosis Complex (TSC) aged between 2 months and 50 years. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Identification of TSC biomarker/s
All samples will be analyzed for the identification of biomarker/s via Liquid Chromatography Multiple Reaction-monitoring Mass Spectrometry (LC/MRM-MS) and compared to merged control, in order to establish the disease-specific biomarker/s. The LC/MRM-MS is performed on an ABSciex 6500 triple quadrupole mass spectrometer, coupled with a Waters Acquity UPLC.
Measured: 36 months
Secondary outcomes (1)
Exploring the clinical robustness, specificity, and longterm variability of TSC biomarker/s
Samples will be analyzed for the candidate biomarker/s via Liquid Chromatography Multiple Reaction-monitoring Mass Spectrometry (LC/MRM-MS) and compared to merged control, in order to establish the disease-specific biomarker/s. The LC/MRM-MS is performed on an ABSciex 6500 triple quadrupole mass spectrometer, coupled with a Waters Acquity UPLC.
Measured: 36 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted13 Jan 2016 (estimated)
- Study start1 Aug 2018
- Primary completion30 Dec 2022
- Study completion30 Dec 2022
Why it stopped: Study no longer pursued.
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Hypomelanotic MaculesStudies of the same condition, open and under way.
- 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
- Prospective
- Enrolment
- 20 participants (actual)
Sponsor and investigators
- Lead sponsor
- CENTOGENE GmbH Rostock
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Peter Bauer, Prof.Dr, Study chair, Centogene GmbH
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02654340
- Sponsor's protocol ID
- TSC 08-2018
- Acronym
- TuScCom
- Status last verified
- Feb 2023
- First submitted
- 13 Oct 2015
- Last updated
- 10 Feb 2023
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 10 Feb 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Biomarkers for Tuberous Sclerosis Complex: An International Multicenter Observational Longitudinal Protocol
- ClinicalTrials.gov ID
- NCT02654340
- Acronym / sponsor ID
- TuScCom / TSC 08-2018
- Conditions
- Hypomelanotic Macules, Facial Angiofibroma, Shagreen Patches, Ungual Fibromas, Cortical Dysplasia, Cardiac Rhabdomyoma
- Keywords
- Tuberous sclerosis complex, Biomarker
- Study type
- Observational
- Recruitment status
- TerminatedReason stopped: Study no longer pursued.
- Enrolment
- 20 participants (actual)
- Lead sponsor
- CENTOGENE GmbH RostockIndustry (pharma, biotech, devices)
- Study start
- 1 Aug 2018 (actual)
- Primary completion
- 30 Dec 2022 (actual)
- Study completion
- 30 Dec 2022 (actual)
- First posted
- 13 Jan 2016 (estimated)
- 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.
International, multicenter, observational, longitudinal study to identify biomarker/s for Tuberous Sclerosis Complex and to explore the clinical robustness, specificity, and long´-term variability of these biomarker/s
Detailed description
Tuberous Sclerosis Complex (TSC) is an autosomal dominant genetic disorder characterized by the growth of numerous tumors in different body parts related to dysregulation of the mechanistic target of rapamycin (mTOR) pathway. The overall incidence of TSC is estimated to be as high as 1 in 6000 to 10,000 live birth.The main aspects of TSC that influence the quality of life are associated with the brain: seizures, evelopmental delay, intellectual disability, and autism. However, the incidence and severity of the various aspects of TSC can vary widely.
TSC is generally caused by pathogenic variants in the tumor suppressor genes: TSC1 and TSC2. Confirmation of a clinical diagnosis of tuberous sclerosis is performed via TSC1 and TSC2 sequencing.
There is no cure for TSC, therefore symptomatic therapy is the best possible choice, including mTOR inhibitors, vigabatrin and other antiepileptic drugs for the seizures, and neurosurgery in cases of life-threatening neurological symptoms.
The aim of the study is established TSC specific biomarker/s. Such biomarkers aim to facilitate the diagnosis, treatment personalization and monitoring.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Participants with Tuberous Sclerosis Complex (TSC) | – | –Üarticipants diagnosed with Tuberous Sclerosis Complex (TSC) aged between 2 months and 50 years. |
Who may qualify
- Ages
- 2 to 50 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- Participants with Tuberous Sclerosis Complex (TSC)
Key inclusion criteria (3 listed)
- Informed consent is obtained from the participant or from the parent / legal guardian
- Participant is aged between 2 and 50 years
- Diagnosis of TSC is genetically confirmed by CENTOGENE
Key exclusion criteria (3 listed)
- Inability to provide informed consent
- Participant is younger than 2 or older than 50 years
- Diagnosis of TSC is not genetically confirmed by CENTOGENE
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
Identification of TSC biomarker/s
Time frame: 36 months
All samples will be analyzed for the identification of biomarker/s via Liquid Chromatography Multiple Reaction-monitoring Mass Spectrometry (LC/MRM-MS) and compared to merged control, in order to establish the disease-specific biomarker/s. The LC/MRM-MS is performed on an ABSciex 6500 triple quadrupole mass spectrometer, coupled with a Waters Acquity UPLC.
1 secondary outcome
Exploring the clinical robustness, specificity, and longterm variability of TSC biomarker/s
Time frame: 36 months
Results and safety
The study was stopped early (reason given: Study no longer pursued.). Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 10 Feb 2023.
- CENTOGENE is a rare disease company focused on transforming clinical, genetic, and biochemical data into medical solutions for patientsLink provided by the sponsor.
- Individual participant dataSharing planned: Undecided
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.
Peter Bauer, Prof.Dr study chair
Centogene GmbH
8 sites in 8 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Hypomelanotic Macules and Facial Angiofibroma, run by CENTOGENE GmbH Rostock at 8 sites in 8 countries.
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 3 inclusion and 3 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: stopped early, as of the sponsor's last update on 10 Feb 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 8 sites in Albania, Egypt, Georgia, India, Lithuania and 3 more countries. 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?
The study was stopped early (reason given: Study no longer pursued.). 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?
Identification of TSC biomarker/s (time frame: 36 months). 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 Feb 2023.