DNA SequencingNCT03971292
Interest of High-throughput Sequencing of RNAs for the Diagnosis of Heterogeneous Genetic Diseases
An observational study of DNA Sequencing and Diagnosis of Genetic Diseases of Heterogeneous Origin, run by University Hospital, Strasbourg, France at 1 site in France.
Trial summary
The advent of high throughput genomic DNA sequencing has led to major advances in the diagnosis of genetic diseases of heterogeneous origin. Thus, our hospital laboratory has developed in recent years several diagnostic tests based on the targeted sequencing of coding sequences of gene panels (from about twenty genes… Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- DNA Sequencing, Diagnosis of Genetic Diseases of Heterogeneous Origin
- What is being tested?
- RNA sequencing
- How many people
- 15 participants
- Where
- 1 siteFrance
- Study dates
- Jun 2019to Jul 2022
- 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: Patient suffering from a pathology studied in the laboratory by high throughput sequencing: intellectual disability, myopathies, neurosensory disease (Bardet-Biedl syndrome, retinitis pigmentosa, ....), DNA repair diseases (Cockayne syndrome, ...)
Who may be able to join
- Patient minor or major
- Patient suffering from a pathology studied in the laboratory by high throughput sequencing: intellectual disability, myopathies, neurosensory disease (Bardet-Biedl syndrome, retinitis pigmentosa, ....), DNA repair diseases (Cockayne syndrome, ...)
- Sampling allowing the extraction of available RNA (or RNA available in the bank)
- Patient (or its legal representative) having already given their consent, on the one hand for carrying out genetic analyzes to determine the cause of their disease, and on the other hand for the conservation of part of their non used for further use in order to continue diagnostic investigations in the light of evolving knowledge and for research purposes.
- Patient (or its legal representative) agreeing to use data from his medical file and those associated with genetic diagnosis for research purposes
- Patient affiliated to a social security scheme Inclusion criteria for the test phase
Show all 10Show fewer
- Pertogenous mutation (s) known Inclusion criteria for the prospective phase
- Magnetic molecular diagnosis, after the usual investigations (high-throughput sequencing of a panel of genes on genomic DNA, sequencing of exome, or even genome.
- Non-inclusion criteria:
- ◾ Refusal of the patient (or his / her legal representative) to participate in the study.
Who cannot join
None listed.
Trial locations and contacts
1 site in 1 country.
France1 site
Les Hôpitaux Universitaires de Strasbourg
Strasbourg, 67091
Nadège CALMELS, +33 33 69 55 07 77, nadege.calmels@chru-strasbourg.fr
Nadège CALMELS
About this study
The advent of high throughput genomic DNA sequencing has led to major advances in the diagnosis of genetic diseases of heterogeneous origin. Thus, our hospital laboratory has developed in recent years several diagnostic tests based on the targeted sequencing of coding sequences of gene panels (from about twenty genes for DNA repair diseases to nearly five hundred genes for the intellectual disability). These targeted analyzes, carried out by capture, have thus solved 25 to 80% of the cases according to the indications, without allowing the diagnosis of the totality of the patients.
For these negative cases, the search for mutations in the coding sequences was then extended to Whole Exome Sequencing, thus providing several additional diagnoses.
Patients still remain without diagnosis after this exome study. These could be complex cases of genetic or even non-genetic origin, but also monogenic pathologies linked to mutations that are not identifiable by coding sequence analyzes, and especially affecting messenger RNAs.
- Being tested
- RNA sequencing
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
RNA sequencingGenetic
Testing interest of messenger RNA sequencing for the etiological diagnosis of unresolved patients after sequencing coding regions.
| Study group | Role | What they receive |
|---|---|---|
| Validation phase | The project will proceed in two phases: a validation test phase including 5 patients of known genotype and a prospective phase including 10 patients. Receives: Genetic: RNA sequencing | |
| Prospective phase | The project will proceed in two phases: a validation test phase including 5 patients of known genotype and a prospective phase including 10 patients. Receives: Genetic: RNA sequencing |
What is being measured
The primary outcome is the main question the study is designed to answer.
RNA sequencing
testing interest of messenger RNA sequencing for the etiological diagnosis of unresolved patients after sequencing of coding regions, and its integration into hospital routine in order to improve the diagnosis of heterogeneous genetic diseases.
Measured: 3 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted3 Jun 2019
- Study startJun 2019 (estimated)
- Primary completionJul 2019 (estimated)
- Study completionJul 2022 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for DNA SequencingStudies of the same condition, open and under way.
- More trials run by University Hospital, Strasbourg, FranceThe 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
- Prospective
- Enrolment
- 15 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Hospital, Strasbourg, France
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03971292
- Sponsor's protocol ID
- 7004
- Status last verified
- May 2019
- First submitted
- 31 May 2019
- Last updated
- 3 Jun 2019
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 3 Jun 2019. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Interest of High-throughput Sequencing of RNAs for the Diagnosis of Heterogeneous Genetic Diseases
- ClinicalTrials.gov ID
- NCT03971292
- Acronym / sponsor ID
- 7004
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 15 participants (estimated)
- Lead sponsor
- University Hospital, Strasbourg, FranceUniversity, hospital or other
- Study start
- Jun 2019 (estimated)
- Primary completion
- Jul 2019 (estimated)
- Study completion
- Jul 2022 (estimated)
- First posted
- 3 Jun 2019 (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.
The advent of high throughput genomic DNA sequencing has led to major advances in the diagnosis of genetic diseases of heterogeneous origin. Thus, our hospital laboratory has developed in recent years several diagnostic tests based on the targeted sequencing of coding sequences of gene panels (from about twenty genes for DNA repair diseases to nearly five hundred genes for the intellectual disability). These targeted analyzes, carried out by capture, have thus solved 25 to 80% of the cases according to the indications, without allowing the diagnosis of the totality of the patients.
For these negative cases, the search for mutations in the coding sequences was then extended to Whole Exome Sequencing, thus providing several additional diagnoses.
Patients still remain without diagnosis after this exome study. These could be complex cases of genetic or even non-genetic origin, but also monogenic pathologies linked to mutations that are not identifiable by coding sequence analyzes, and especially affecting messenger RNAs.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Validation phase | – | Genetic: RNA sequencingThe project will proceed in two phases: a validation test phase including 5 patients of known genotype and a prospective phase including 10 patients. |
| Prospective phase | – | Genetic: RNA sequencingThe project will proceed in two phases: a validation test phase including 5 patients of known genotype and a prospective phase including 10 patients. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patient suffering from a pathology studied in the laboratory by high throughput sequencing: intellectual disability, myopathies, neurosensory disease (Bardet-Biedl syndrome, retinitis pigmentosa, ....), DNA repair diseases (Cockayne syndrome, ...)
Key inclusion criteria (10 listed)
- Patient minor or major
- Patient suffering from a pathology studied in the laboratory by high throughput sequencing: intellectual disability, myopathies, neurosensory disease (Bardet-Biedl syndrome, retinitis pigmentosa, ....), DNA repair diseases (Cockayne syndrome, ...)
- Sampling allowing the extraction of available RNA (or RNA available in the bank)
- Patient (or its legal representative) having already given their consent, on the one hand for carrying out genetic analyzes to determine the cause of their disease, and on the other hand for the conservation of part of their non used for further use in order to continue diagnostic investigations in the light of evolving knowledge and for research purposes.
- Patient (or its legal representative) agreeing to use data from his medical file and those associated with genetic diagnosis for research purposes
Key exclusion criteria (0 listed)
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 |
|---|---|---|
| RNA sequencingTesting interest of messenger RNA sequencing for the etiological diagnosis of unresolved patients after sequencing coding regions. | Genetic | Prospective phase, Validation phase |
Primary outcome
RNA sequencing
Time frame: 3 years
testing interest of messenger RNA sequencing for the etiological diagnosis of unresolved patients after sequencing of coding regions, and its integration into hospital routine in order to improve the diagnosis of heterogeneous genetic diseases.
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 3 Jun 2019.
- Individual participant dataSharing planned: Undecided
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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.
Les Hôpitaux Universitaires de Strasbourg
Strasbourg, France
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 DNA Sequencing and Diagnosis of Genetic Diseases of Heterogeneous Origin, run by University Hospital, Strasbourg, France 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 10 inclusion and 0 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 3 Jun 2019. 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?
Each site lists its own contact: choose the nearest one under Trial locations. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
RNA sequencing (time frame: 3 years). 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 3 Jun 2019.