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New Variants Involved in Taybi-Linder Syndrome (NewViTALS)

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ClinicalTrials.gov Identifier: NCT03222947
Recruitment Status : Unknown
Verified July 2017 by Hospices Civils de Lyon.
Recruitment status was:  Not yet recruiting
First Posted : July 19, 2017
Last Update Posted : July 19, 2017
Sponsor:
Information provided by (Responsible Party):
Hospices Civils de Lyon

Tracking Information
First Submitted Date July 18, 2017
First Posted Date July 19, 2017
Last Update Posted Date July 19, 2017
Estimated Study Start Date September 2017
Estimated Primary Completion Date May 2018   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: July 18, 2017)
Identification of new variants involved in the Taybi-Linder syndrome [ Time Frame: Collection at time of diagnosis = less than one day ]
A genetic high throughput exome capture sequencing of 19 deoxyribonucleic acid samples from patients diagnosed with a Taybi-Linder like syndrome and their blood relatives
Original Primary Outcome Measures Same as current
Change History No Changes Posted
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title New Variants Involved in Taybi-Linder Syndrome
Official Title Identification of New Genes Involved in the Taybi-Linder Syndrome.
Brief Summary

Taybi-Linder syndrome (TALS, OMIM 210710) is a rare autosomal recessive disorder belonging to the group of microcephalic osteodysplastic primordial dwarfisms (MOPD). This syndrome is characterized by short stature, skeletal anomalies, severe microcephaly with brain malformations and facial dysmorphism, and is caused by mutations in RNU4ATAC. Although RNU4ATAC-associated TALS is a recognizable phenotype, an atypical presentation is sometimes observed, thus expanding the clinical spectrum (TALS-like phenotype).

This study aims to identify new variants involved in Taybi-Linder syndrome and associated phenotypes (i.e.TALS-like).

This non interventional study will be performed on patients with no proven mutation of RNU4ATAC and their blood relatives (19 samples total) by high throughput sequencing and genetic analysis of already collected deoxyribonucleic acid samples.

Altogether, such a study will allow a better understanding of the molecular mechanisms responsible for the Taybi-Linder syndrome and Taybi-Linder syndrome-like phenotypes as well as the pathophysiology of these devastating forms of microcephalic dwarfism.

Detailed Description Not Provided
Study Type Observational
Study Design Observational Model: Cohort
Time Perspective: Retrospective
Target Follow-Up Duration Not Provided
Biospecimen Retention:   Samples With DNA
Description:
Deoxyribonucleic acid of patients obtained either from blood samples (lymphocytes) or foetal tissue sampling
Sampling Method Non-Probability Sample
Study Population Patients diagnosed with a Taybi-Linder or Taybi-Linder like syndrome and their blood relatives.
Condition
  • Taybi Linder Syndrome
  • Genetic Syndrome
Intervention Genetic: Deoxyribonucleic acid analysis
This study consists in the high throughput exome sequencing and subsequent genetic bio-analysis of 19 deoxyribonucleic acid samples from 6 families, already collected and consented, including patients diagnosed with a Taybi-Linder syndrome and their relatives (parents and/or siblings).
Study Groups/Cohorts
  • Taybi-Linder index cases
    Taybi-Linder index cases who have already consented for the (re)use of their DNA samples for medical research.
    Intervention: Genetic: Deoxyribonucleic acid analysis
  • Blood relatives of Taybi-Linder index cases
    Blood relatives of Taybi-Linder index cases who have already consented for the (re)use of their DNA samples for medical research.
    Intervention: Genetic: Deoxyribonucleic acid analysis
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Unknown status
Estimated Enrollment
 (submitted: July 18, 2017)
19
Original Estimated Enrollment Same as current
Estimated Study Completion Date June 2018
Estimated Primary Completion Date May 2018   (Final data collection date for primary outcome measure)
Eligibility Criteria

Inclusion Criteria:

  • foetus or young children diagnosed with a Taybi-Linder or Taybi-Linder like syndrome, with no RNU4ATAC mutation (index case)
  • aged 20 weeks pregnant to 18 years old
  • parents or sibling of the index cases, with informed consent for the analysis of both their DNA sample and the one of the index case.

Exclusion Criteria:

  • no informed consent for the use of genetic samples for medical research
Sex/Gender
Sexes Eligible for Study: All
Ages Child, Adult, Older Adult
Accepts Healthy Volunteers No
Contacts Contact information is only displayed when the study is recruiting subjects
Listed Location Countries France
Removed Location Countries  
 
Administrative Information
NCT Number NCT03222947
Other Study ID Numbers 69HCL16_0774
Has Data Monitoring Committee No
U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
IPD Sharing Statement
Plan to Share IPD: No
Responsible Party Hospices Civils de Lyon
Study Sponsor Hospices Civils de Lyon
Collaborators Not Provided
Investigators Not Provided
PRS Account Hospices Civils de Lyon
Verification Date July 2017