Developmental AnomaliesFASTGENNCT03956069
Study of the Diagnostic Value of "Rapid" High Throughput Genome Sequencing Analysis in Diagnostic Emergency Situations
An observational study of Developmental Anomalies, run by Centre Hospitalier Universitaire Dijon at 1 site in France.
Trial summary
Rare diseases (affecting less than one in 2,000 people) are a major public health issue. There are about 8,000 rare diseases and they affect more than 3 million people in France. Most of these diseases are diagnosed in children, and they are responsible for 10% of deaths before the age of 5. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Developmental Anomalies
- What is being tested?
- blood sample and genome sequencing
- How many people
- 57 participants
- Where
- 1 siteFrance
- Study dates
- 23 Jun 2020to 25 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: child with a suspected genetic disease without an obvious clinical diagnosis and both biological parents
Who may be able to join
- Children (0-6 years old) hospitalized in neonatal intensive care or pediatric intensive care with a suspected genetic disease and without an obvious clinical diagnosis
- Possibility of taking the proband and their 2 biological parents
- Parents affiliated to or beneficiaries of the national health insurance system
- Informed consent signed by the legal representatives of the minor patient
- Ability to understand the study for both biological parents
Who cannot join
- Diagnostic hypothesis considered highly probable with an available molecular test having a lower cost than GS
- Individuals who have already had high throughput sequencing (panel, ES)
- Parents protected
- Families where one of the two holders of parental authority is not a biological parent
Trial locations and contacts
1 site in 1 country.
About this study
Rare diseases (affecting less than one in 2,000 people) are a major public health issue. There are about 8,000 rare diseases and they affect more than 3 million people in France. Most of these diseases are diagnosed in children, and they are responsible for 10% of deaths before the age of 5. Up to 80% of these diseases are believed to be of genetic origin. New generation high throughput sequencing (HTS) technologies, which allow the study of an individual's entire genome, have emerged in recent years as a tool of choice for the study of rare diseases. Our team was the first in France to demonstrate the value of exome sequencing (ES: all coding regions (exons), representing 1% of the total genome size) in the diagnosis of severe diseases in pediatric patients, developmental anomalies and intellectual disability.
Although it represents a significant advance in the diagnosis of genetic diseases, ES provides a contributing result in only about 30% of cases in patients with no obvious clinical diagnosis and with normal CGH-array. Sequencing the entire genome (GS) promises to improve the ability to study the causes of genetic diseases, with an expected diagnostic rate of 50 to 60% through the concomitant identification of point variations, CNVs and structural variations. While some international teams have already implemented GS in the diagnosis of rare diseases, only two teams report the use of trio GS in emergency situations in the neonatal period, with a low yield for first-line diagnostic use (31 and 42% respectively). It is therefore essential that these preliminary results be compared with other studies before considering the deployment of GS in diagnostic, early detection or rapidly evolving emergency situations, such as neonatal resuscitation or pediatric neurological distress.
- Conditions
- Developmental Anomalies
- Being tested
- blood sample, genome sequencing
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
blood sampleBiological
for patient and its parents
genome sequencingGenetic
whole genome sequencing
What is being measured
The primary outcome is the main question the study is designed to answer.
identification of a causal diagnosis
identification of genetic etiology
Measured: Through study completion, an average of 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted20 May 2019
- Study start23 Jun 2020
- Primary completion25 Jan 2022
- Study completion25 Jul 2022
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Developmental AnomaliesStudies of the same condition, open and under way.
- More trials run by Centre Hospitalier Universitaire DijonThe 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
- Family based
- Time perspective
- Prospective
- Enrolment
- 57 participants (actual)
Sponsor and investigators
- Lead sponsor
- Centre Hospitalier Universitaire Dijon
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03956069
- Sponsor's protocol ID
- SORLIN PHRCI 2018
- Acronym
- FASTGEN
- Status last verified
- Sep 2022
- First submitted
- 15 May 2019
- Last updated
- 21 Sep 2022
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 21 Sep 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Study of the Diagnostic Value of "Rapid" High Throughput Genome Sequencing Analysis in Diagnostic Emergency Situations
- ClinicalTrials.gov ID
- NCT03956069
- Acronym / sponsor ID
- FASTGEN / SORLIN PHRCI 2018
- Conditions
- Developmental Anomalies
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 57 participants (actual)
- Lead sponsor
- Centre Hospitalier Universitaire DijonUniversity, hospital or other
- Study start
- 23 Jun 2020 (actual)
- Primary completion
- 25 Jan 2022 (actual)
- Study completion
- 25 Jul 2022 (actual)
- First posted
- 20 May 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.
Rare diseases (affecting less than one in 2,000 people) are a major public health issue. There are about 8,000 rare diseases and they affect more than 3 million people in France. Most of these diseases are diagnosed in children, and they are responsible for 10% of deaths before the age of 5. Up to 80% of these diseases are believed to be of genetic origin. New generation high throughput sequencing (HTS) technologies, which allow the study of an individual's entire genome, have emerged in recent years as a tool of choice for the study of rare diseases. Our team was the first in France to demonstrate the value of exome sequencing (ES: all coding regions (exons), representing 1% of the total genome size) in the diagnosis of severe diseases in pediatric patients, developmental anomalies and intellectual disability.
Although it represents a significant advance in the diagnosis of genetic diseases, ES provides a contributing result in only about 30% of cases in patients with no obvious clinical diagnosis and with normal CGH-array. Sequencing the entire genome (GS) promises to improve the ability to study the causes of genetic diseases, with an expected diagnostic rate of 50 to 60% through the concomitant identification of point variations, CNVs and structural variations. While some international teams have already implemented GS in the diagnosis of rare diseases, only two teams report the use of trio GS in emergency situations in the neonatal period, with a low yield for first-line diagnostic use (31 and 42% respectively). It is therefore essential that these preliminary results be compared with other studies before considering the deployment of GS in diagnostic, early detection or rapidly evolving emergency situations, such as neonatal resuscitation or pediatric neurological distress.
Study design
- Observational model
- Family based
- Time perspective
- Prospective
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- child with a suspected genetic disease without an obvious clinical diagnosis and both biological parents
Key inclusion criteria (5 listed)
- Children (0-6 years old) hospitalized in neonatal intensive care or pediatric intensive care with a suspected genetic disease and without an obvious clinical diagnosis
- Possibility of taking the proband and their 2 biological parents
- Parents affiliated to or beneficiaries of the national health insurance system
- Informed consent signed by the legal representatives of the minor patient
- Ability to understand the study for both biological parents
Key exclusion criteria (4 listed)
- Diagnostic hypothesis considered highly probable with an available molecular test having a lower cost than GS
- Individuals who have already had high throughput sequencing (panel, ES)
- Parents protected
- Families where one of the two holders of parental authority is not a biological parent
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 |
|---|---|---|
| blood samplefor patient and its parents | Biological | – |
| genome sequencingwhole genome sequencing | Genetic | – |
Primary outcome
identification of a causal diagnosis
Time frame: Through study completion, an average of 2 years
identification of genetic etiology
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 21 Sep 2022.
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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.
The record lists no contact. Use the official record to reach the sponsor.
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 Developmental Anomalies, run by Centre Hospitalier Universitaire Dijon 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 5 inclusion and 4 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: finished, as of the sponsor's last update on 21 Sep 2022. 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
identification of a causal diagnosis (time frame: Through study completion, an average of 2 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 21 Sep 2022.