Taybi Linder SyndromeNewViTALSNCT03222947
New Variants Involved in Taybi-Linder Syndrome
An observational study of Taybi Linder Syndrome and Genetic Syndrome, run by Hospices Civils de Lyon at 1 site in France.
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… Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Taybi Linder Syndrome, Genetic Syndrome
- What is being tested?
- Deoxyribonucleic acid analysis
- How many people
- 19 participants
- Where
- 1 siteFrance
- Study dates
- Sep 2017to Jun 2018
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients diagnosed with a Taybi-Linder or Taybi-Linder like syndrome and their blood relatives.
Who may be able to join
- 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.
Who cannot join
- no informed consent for the use of genetic samples for medical research
Trial locations and contacts
1 site in 1 country.
France1 site
Service de Génétique Clinique, Groupement Hospitalier Est, Hospices Civils de Lyon
Lyon, 69677
Audrey PUTOUX, MCU-PH, 04 27 85 50 83 ext. +33, audrey.putoux@chu-lyon.fr
Charles EDERY, PU-PH, 04 27 85 55 73 ext. +33, charles.edery@chu-lyon.fr
About this study
Official title: Identification of New Genes Involved in the Taybi-Linder Syndrome.
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).
Read more
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.
- Conditions
- Taybi Linder Syndrome, Genetic Syndrome
- Being tested
- Deoxyribonucleic acid analysis
- Medical subject headings
- Microcephalic osteodysplastic primordial dwarfism, type 1, Genetic Diseases, Inborn
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Deoxyribonucleic acid analysisGenetic
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 group | Role | What they receive |
|---|---|---|
| Taybi-Linder index cases | Taybi-Linder index cases who have already consented for the (re)use of their DNA samples for medical research. Receives: 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. Receives: Genetic: Deoxyribonucleic acid analysis |
What is being measured
The primary outcome is the main question the study is designed to answer.
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
Measured: Collection at time of diagnosis = less than one day
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 Jul 2017
- Study startSep 2017 (estimated)
- Primary completionMay 2018 (estimated)
- Study completionJun 2018 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Taybi Linder SyndromeStudies of the same condition, open and under way.
- More trials run by Hospices Civils de LyonThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Retrospective
- Enrolment
- 19 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Hospices Civils de Lyon
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03222947
- Sponsor's protocol ID
- 69HCL16_0774
- Acronym
- NewViTALS
- Status last verified
- Jul 2017
- First submitted
- 18 Jul 2017
- Last updated
- 19 Jul 2017
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 19 Jul 2017. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Identification of New Genes Involved in the Taybi-Linder Syndrome.
- ClinicalTrials.gov ID
- NCT03222947
- Acronym / sponsor ID
- NewViTALS / 69HCL16_0774
- Conditions
- Taybi Linder Syndrome, Genetic Syndrome
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 19 participants (estimated)
- Lead sponsor
- Hospices Civils de LyonUniversity, hospital or other
- Study start
- Sep 2017 (estimated)
- Primary completion
- May 2018 (estimated)
- Study completion
- Jun 2018 (estimated)
- First posted
- 19 Jul 2017 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Taybi-Linder index cases | – | Genetic: Deoxyribonucleic acid analysisTaybi-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 | – | Genetic: Deoxyribonucleic acid analysisBlood relatives of Taybi-Linder index cases who have already consented for the (re)use of their DNA samples for medical research. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients diagnosed with a Taybi-Linder or Taybi-Linder like syndrome and their blood relatives.
Key inclusion criteria (3 listed)
- 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.
Key exclusion criteria (1 listed)
- no informed consent for the use of genetic samples for medical research
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Deoxyribonucleic acid analysisThis 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). | Genetic | Blood relatives of Taybi-Linder index cases, Taybi-Linder index cases |
Primary outcome
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
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 19 Jul 2017.
- Individual participant dataSharing planned: No
Related trials for Taybi Linder Syndrome
Recruiting
Study of the Pathophysiology of RNU4ATAC and RTTN Associated Syndromes
Taybi Linder Syndrome, Microcephalic Osteodysplastic Primordial Dwarfism Types I and III
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Taybi Linder Syndrome and Genetic Syndrome, run by Hospices Civils de Lyon at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 19 Jul 2017. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Audrey PUTOUX, MCU-PH (04 27 85 50 83 ext. +33, audrey.putoux@chu-lyon.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Identification of new variants involved in the Taybi-Linder syndrome (time frame: Collection at time of diagnosis = less than one day). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 19 Jul 2017.