Familial LipomatosisDERMA-SEQNCT02509650
Identification of Mutations Responsible for Rare Familial Skin Diseases by Next Generation Sequencing
An observational study of Familial Lipomatosis and Very Rare Dermatologic Diseases, run by University Hospital, Strasbourg, France at 2 sites in France.
Trial summary
The primary purpose of the protocol is to use next generation sequencing to identify pathogenic variants in genes involved in very rare skin diseases. The secondary purpose will be to study the genotype-phenotype correlation in order to re-evaluate the classification of these disorders. Read more about this study
- Who is it for?
- Ages 2 years and olderHealthy volunteers can take part
- Conditions the study is for
- Familial Lipomatosis, Very Rare Dermatologic Diseases
- How many people
- 25 participants
- Where
- 2 sitesFrance
- Study dates
- Sep 2015to Feb 2018
- 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 years and older
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Familial lipomatosis
Who may be able to join
- patients affected by familial lipomatosis
- patients with rare dermatologic disease without molecular diagnosis
- written informed consent is obtained from the patient and his/her family
Who cannot join
- the patient does not want to participate to the protocol
- the patient is already included in another study using next generation sequencing technologies
Trial locations and contacts
2 sites in 1 country.
France2 sites, 2 recruiting
- Recruiting
Fédération de Génétique, Service de Génétique Médicale, Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg
Strasbourg, 67091
Salima EL CHEHADEH, MD, 33.3.88.12.81.25, salima.elchehadeh@chru-strasbourg.fr
Salima EL CHEHADEH, MD
- Recruiting
Service de Dermatologie, Hôpital Civil, Hôpitaux Universitaires de Strasbourg
Strasbourg, 67091
Dan LIPSKER, MD, 33.3.88.11.61.79, dan.lipsker@chru-strasbourg.fr
Dan LIPSKER, MD
About this study
The primary purpose of the protocol is to use next generation sequencing to identify pathogenic variants in genes involved in very rare skin diseases.
The secondary purpose will be to study the genotype-phenotype correlation in order to re-evaluate the classification of these disorders. This work could help in the understanding of the physiopathology of very rare skin disorders.
- Keywords
- Exome sequencing, Skin disease, Familial lipomatosis
- Medical subject headings
- Skin Diseases
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of patients with a deleterious mutation
Validation of the exome sequencing results will be done by sanger sequencing
Measured: 6 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 Jul 2015 (estimated)
- Study startSep 2015
- Primary completionFeb 2018 (estimated)
- Study completionFeb 2018 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Familial LipomatosisStudies of the same condition, open and under way.
- More trials run by University Hospital, Strasbourg, FranceThe 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
- Prospective
- Enrolment
- 25 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Hospital, Strasbourg, France
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Salima EL CHEHADEH, MD, Principal investigator, Hôpitaux Universitaires de Strasbourg
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02509650
- Sponsor's protocol ID
- 6024
- Acronym
- DERMA-SEQ
- Status last verified
- Oct 2016
- First submitted
- 15 Jul 2015
- Last updated
- 10 Oct 2016
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 10 Oct 2016. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Identification of Mutations Responsible for Rare Familial Skin Diseases by Next Generation Sequencing
- ClinicalTrials.gov ID
- NCT02509650
- Acronym / sponsor ID
- DERMA-SEQ / 6024
- Keywords
- Exome sequencing, Skin disease, Familial lipomatosis
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 25 participants (estimated)
- Lead sponsor
- University Hospital, Strasbourg, FranceUniversity, hospital or other
- Study start
- Sep 2015
- Primary completion
- Feb 2018 (estimated)
- Study completion
- Feb 2018 (estimated)
- First posted
- 28 Jul 2015 (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.
The primary purpose of the protocol is to use next generation sequencing to identify pathogenic variants in genes involved in very rare skin diseases.
The secondary purpose will be to study the genotype-phenotype correlation in order to re-evaluate the classification of these disorders. This work could help in the understanding of the physiopathology of very rare skin disorders.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- 2 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Familial lipomatosis
Key inclusion criteria (3 listed)
- patients affected by familial lipomatosis
- patients with rare dermatologic disease without molecular diagnosis
- written informed consent is obtained from the patient and his/her family
Key exclusion criteria (2 listed)
- the patient does not want to participate to the protocol
- the patient is already included in another study using next generation sequencing technologies
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
Number of patients with a deleterious mutation
Time frame: 6 months
Validation of the exome sequencing results will be done by sanger sequencing
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 10 Oct 2016.
Related trials for Familial Lipomatosis
RecruitingObservational study
Cancer in Inherited Bone Marrow Failure Syndromes
Diamond Blackfan Anemia, Dyskeratosis Congenita
RecruitingObservational study
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Rare Disorders, Undiagnosed Disorders
Active, not recruitingPhase 1/2
CD34+ (Non-Malignant) Stem Cell Selection for Patients Receiving Allogeneic Stem Cell Transplantation
Bone Marrow Failure Syndrome, Severe Aplastic Anemia
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.
Salima EL CHEHADEH, MD principal investigator
Hôpitaux Universitaires de Strasbourg
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Familial Lipomatosis and Very Rare Dermatologic Diseases, run by University Hospital, Strasbourg, France at 2 sites 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 3 inclusion and 2 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 Oct 2016. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites 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?
Contact Salima EL CHEHADEH, MD (33.3.88.12.81.20, salima.elchehadeh@chru-strasbourg.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Number of patients with a deleterious mutation (time frame: 6 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 Oct 2016.