Identification of Mutations Responsible for Rare Familial Skin Diseases by Next Generation Sequencing
NCT ID: NCT02509650
Last Updated: 2016-10-10
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.
UNKNOWN
25 participants
OBSERVATIONAL
2015-09-30
2018-02-28
Brief Summary
Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.
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.
Related Clinical Trials
Explore similar clinical trials based on study characteristics and research focus.
Functional Study to Indentify Genetic Etiology of Rare Diseases - ORIGIN
NCT05499091
Method of Genetic Analysis in Genodermatoses
NCT03873285
Genetic Analysis of Uncommon Disease Presentations in Non-US Populations
NCT06595940
Transcriptomic Analysis of Fibroblasts and Blood in Patients With Rare Diseases
NCT07075107
Finding Genes for Rare Diseases
NCT02724995
Detailed Description
Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.
Conditions
See the medical conditions and disease areas that this research is targeting or investigating.
Study Design
Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.
COHORT
PROSPECTIVE
Eligibility Criteria
Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.
Inclusion Criteria
* patients with rare dermatologic disease without molecular diagnosis
* written informed consent is obtained from the patient and his/her family
Exclusion Criteria
* the patient is already included in another study using next generation sequencing technologies
2 Years
ALL
Yes
Sponsors
Meet the organizations funding or collaborating on the study and learn about their roles.
University Hospital, Strasbourg, France
OTHER
Responsible Party
Identify the individual or organization who holds primary responsibility for the study information submitted to regulators.
Principal Investigators
Learn about the lead researchers overseeing the trial and their institutional affiliations.
Salima EL CHEHADEH, MD
Role: PRINCIPAL_INVESTIGATOR
Hôpitaux Universitaires de Strasbourg
Locations
Explore where the study is taking place and check the recruitment status at each participating site.
Fédération de Génétique, Service de Génétique Médicale, Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg
Strasbourg, , France
Service de Dermatologie, Hôpital Civil, Hôpitaux Universitaires de Strasbourg
Strasbourg, , France
Countries
Review the countries where the study has at least one active or historical site.
Central Contacts
Reach out to these primary contacts for questions about participation or study logistics.
Facility Contacts
Find local site contact details for specific facilities participating in the trial.
Other Identifiers
Review additional registry numbers or institutional identifiers associated with this trial.
6024
Identifier Type: -
Identifier Source: org_study_id
More Related Trials
Additional clinical trials that may be relevant based on similarity analysis.