NCT02509650

Brief 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. This work could help in the understanding of the physiopathology of very rare skin disorders.

Trial Health

43
At Risk

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Trial has exceeded expected completion date
Enrollment
25

participants targeted

Target at below P25 for all trials

Timeline
Completed

Started Sep 2015

Typical duration for all trials

Geographic Reach
1 country

2 active sites

Status
unknown

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

July 15, 2015

Completed
13 days until next milestone

First Posted

Study publicly available on registry

July 28, 2015

Completed
1 month until next milestone

Study Start

First participant enrolled

September 1, 2015

Completed
2.4 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

February 1, 2018

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

February 1, 2018

Completed
Last Updated

October 10, 2016

Status Verified

October 1, 2016

Enrollment Period

2.4 years

First QC Date

July 15, 2015

Last Update Submit

October 7, 2016

Conditions

Familial LipomatosisVery Rare Dermatologic Diseases

Keywords

Exome sequencingSkin diseaseFamilial lipomatosis

Outcome Measures

Primary Outcomes (1)

  • Number of patients with a deleterious mutation

    Validation of the exome sequencing results will be done by sanger sequencing

    6 months

Eligibility Criteria

Age2 Years+
Sexall
Healthy VolunteersYes
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Familial lipomatosis

You may qualify if:

  • 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

You may not qualify if:

  • the patient does not want to participate to the protocol
  • the patient is already included in another study using next generation sequencing technologies

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (2)

Fédération de Génétique, Service de Génétique Médicale, Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg

Strasbourg, 67091, France

RECRUITING

Service de Dermatologie, Hôpital Civil, Hôpitaux Universitaires de Strasbourg

Strasbourg, 67091, France

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Whole blood

MeSH Terms

Conditions

Skin Diseases

Condition Hierarchy (Ancestors)

Skin and Connective Tissue Diseases

Study Officials

  • Salima EL CHEHADEH, MD

    Hôpitaux Universitaires de Strasbourg

    PRINCIPAL INVESTIGATOR

Central Study Contacts

Salima EL CHEHADEH, MD

CONTACT

33.3.88.12.81.20salima.elchehadeh@chru-strasbourg.fr

Dan LIPSKER, MD

CONTACT

33.3.88.11.61.79dan.lipsker@chru-strasbourg.fr

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

July 15, 2015

First Posted

July 28, 2015

Study Start

September 1, 2015

Primary Completion

February 1, 2018

Study Completion

February 1, 2018

Last Updated

October 10, 2016

Record last verified: 2016-10

Locations

FR(2)