New Variants Involved in Taybi-Linder Syndrome
NewViTALS
Identification of New Genes Involved in the Taybi-Linder Syndrome.
1 other identifier
observational
19
1 country
1
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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at below P25 for all trials
Started Sep 2017
Shorter than P25 for all trials
1 active site
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
First Submitted
Initial submission to the registry
July 18, 2017
CompletedFirst Posted
Study publicly available on registry
July 19, 2017
CompletedStudy Start
First participant enrolled
September 1, 2017
CompletedPrimary Completion
Last participant's last visit for primary outcome
May 1, 2018
CompletedStudy Completion
Last participant's last visit for all outcomes
June 1, 2018
CompletedJuly 19, 2017
July 1, 2017
8 months
July 18, 2017
July 18, 2017
Conditions
Outcome Measures
Primary Outcomes (1)
Identification of new variants involved in the Taybi-Linder syndrome
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
Collection at time of diagnosis = less than one day
Study Arms (2)
Taybi-Linder index cases
Taybi-Linder index cases who have already consented for the (re)use of their DNA samples for medical research.
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.
Interventions
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).
Eligibility Criteria
Patients diagnosed with a Taybi-Linder or Taybi-Linder like syndrome and their blood relatives.
You may qualify if:
- 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.
You may not qualify if:
- no informed consent for the use of genetic samples for medical research
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (1)
Service de Génétique Clinique, Groupement Hospitalier Est, Hospices Civils de Lyon
Lyon, 69677, France
Biospecimen
Deoxyribonucleic acid of patients obtained either from blood samples (lymphocytes) or foetal tissue sampling
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- COHORT
- Time Perspective
- RETROSPECTIVE
- Sponsor Type
- OTHER
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
July 18, 2017
First Posted
July 19, 2017
Study Start
September 1, 2017
Primary Completion
May 1, 2018
Study Completion
June 1, 2018
Last Updated
July 19, 2017
Record last verified: 2017-07
Data Sharing
- IPD Sharing
- Will not share