New Variants Involved in Taybi-Linder Syndrome

Genetic Syndrome Clinical Trial

— NewViTALS  

Official title:

Identification of New Genes Involved in the Taybi-Linder Syndrome.

Clinical Trial Details — Status: Not yet recruiting

Administrative data

• NCT number: NCT03222947
• Other study ID #: 69HCL16_0774
• Status: Not yet recruiting
• Phase: N/A
• First received: July 18, 2017
• Last updated: July 18, 2017
• Start date: September 2017
• Est. completion date: June 2018

Study information

• Verified date: July 2017
• Source: Hospices Civils de Lyon
• Contact: Audrey PUTOUX, MCU-PH
• Phone: 04 27 85 50 83
• Email: audrey.putoux[@]chu-lyon.fr
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Not yet recruiting
• Enrollment: 19
• Est. completion date: June 2018
• Est. primary completion date: May 2018
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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

Related Conditions & MeSH terms

• Dwarfism
• Fetal Growth Retardation
• Genetic Syndrome
• Microcephaly
• Syndrome
• Taybi Linder 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).

Locations

Country	Name	City	State
France	Service de Génétique Clinique, Groupement Hospitalier Est, Hospices Civils de Lyon	Lyon

Sponsors (1)

Lead Sponsor	Collaborator
Hospices Civils de Lyon

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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