Rare Genetic DiseaseJL-seqNCT07877688
Exome and Genome Sequencing of DNA Samples, as Required by Specific Research Projects and the Diagnostic Needs of the Gaslini Institute, to Be Performed Within the Framework of the "Joint Genomic Lab" Established Between IGG and IIT
An observational study of Rare Genetic Disease, run by Istituto Giannina Gaslini at 1 site in Italy.
Trial summary
The study involves two centers, only one of which recruits clinical cases. It is funded by the two participating centers according to their respective areas of expertise, in particular through research projects that will make use of sequencing services at IIT, as well as through IGG's institutional research funding… Read more about this study
- Who is it for?
- Ages 0 days to 17 years
- Conditions the study is for
- Rare Genetic Disease
- How many people
- 1,950 participants
- Where
- 1 siteItaly
- Study dates
- 11 Oct 2021to 31 Dec 2026
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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 0 days to 17 years
- All sexes
- Child
Study population: The total number of subjects expected to be enrolled is approximately 1,600 and 350 samples for WES and WGS, respectively, over the 48-month study period.
Who may be able to join
- Patients affected by a rare genetic disease.
- Patients for whom a clinical and/or molecular diagnosis has not yet been established.
- The referring IGG clinician considers the clinical phenotype worthy of further investigation and suggestive of a genetic etiology.
- The family consents to participate in the study, together with the affected individual, including undergoing WES and/or WGS and authorizing the use of the resulting data.
Who cannot join
- Failure to meet at least one of the inclusion criteria listed above.
- Previous whole-genome sequencing (WGS).
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Italy1 site, 1 recruiting
- Recruiting
IRCCS Istituto Giannina Gaslini
Genova
Isabella Ceccherini, +39 010 5636 2800, isabellaceccherini@gaslini.org
About this study
Official title: Sequenziamento Esomico e Genomico di Campioni di DNA, Come Richiesto Sia da Specifici Progetti di Ricerca Che Dalle Necessita' Diagnostiche Dell'Istituto Gaslini, da Effettuarsi Nell'Ambito Del Cosiddetto ''Joint,Lab,Genomico'' Istituito Tra IGG e IIT / Exome and Genome Sequencing of DNA Samples, as Required by Specific Research Projects and the Diagnostic Needs of the Gaslini Institute, to Be Performed Within the Framework of the "Joint Genomic Lab" Established Between IGG and IIT
The study involves two centers, only one of which recruits clinical cases. It is funded by the two participating centers according to their respective areas of expertise, in particular through research projects that will make use of sequencing services at IIT, as well as through IGG's institutional research funding and clinical diagnostic budget.
The study is therefore a single-center, translational, open-label cohort study.
Read more
Biological samples from patients and their parents selected to undergo whole-exome sequencing (WES) or whole-genome sequencing (WGS) will be collected and stored within the respective Clinical Units of the Giannina Gaslini Institute, specifically in the DNA Biobank and its associated repositories. Both blood sampling to obtain DNA samples that are not yet available and the use of existing DNA samples will be subject to the informed consent of the individuals concerned.
Appropriate DNA aliquots will be sent to IIT for sequencing after the samples have been pseudonymized using specific internal codes assigned by each IGG Clinical Unit. Any excess DNA remaining after completion of the sequencing procedures at IIT will be returned to the Gaslini Institute Biobank. Re-identification of the data associated with samples submitted for advanced genetic testing will only be possible by personnel designated by the heads of the respective Clinical Units who were responsible for sample collection. The same code, once linked to the corresponding Phenotips identifier, will be used to manage clinical and phenotypic data in the database to be established.
The genetic data obtained will be stored at the IGG-IIT Joint Genomics Lab in raw format (FASTQ) and made available to the IGG Bioinformatics Unit, which will process them into analysis-ready formats (BAM/CRAM/VCF) and compile the results into a report to be forwarded to the designated contacts in each respective clinical/genetics unit. At these units, the sample code will be decoded to enable communication of any resulting diagnosis to the referring clinicians and the family.
- Conditions
- Rare Genetic Disease
What is being measured
The primary outcome is the main question the study is designed to answer.
Establishment of a Clinical and Genetic Database of Patients with Undiagnosed Rare Genetic Diseases
Database of Clinical and Genetic Data from Patients with Undiagnosed Rare Genetic Diseases (RGDs)
Measured: Within 48 months from study initiation
Secondary outcomes (1)
Increase in the Diagnostic Rate of Complex Rare Genetic Diseases (RGDs)
Increase in the Diagnostic Rate of Complex Rare Genetic Diseases (RGDs)
Measured: Within 48 months from study initiation
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted16 Oct 2026
- Study start11 Oct 2021
- Primary completion31 Dec 2026 (estimated)
- Study completion31 Dec 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Rare Genetic DiseaseStudies of the same condition, open and under way.
- 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
- 1,950 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Istituto Giannina Gaslini
- Sponsor type
- University, hospital or other
- Collaborators
- Istituto Italiano di Tecnologia
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07877688
- Sponsor's protocol ID
- JL-seq (11649)
- Acronym
- JL-seq
- Status last verified
- Oct 2026
- First submitted
- 9 Oct 2026
- Last updated
- 16 Oct 2026
- Results posted
- No
Study at a glance
From the registry record, last updated by the sponsor on 16 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Sequenziamento Esomico e Genomico di Campioni di DNA, Come Richiesto Sia da Specifici Progetti di Ricerca Che Dalle Necessita' Diagnostiche Dell'Istituto Gaslini, da Effettuarsi Nell'Ambito Del Cosiddetto ''Joint,Lab,Genomico'' Istituito Tra IGG e IIT / Exome and Genome Sequencing of DNA Samples, as Required by Specific Research Projects and the Diagnostic Needs of the Gaslini Institute, to Be Performed Within the Framework of the "Joint Genomic Lab" Established Between IGG and IIT
- ClinicalTrials.gov ID
- NCT07877688
- Acronym / sponsor ID
- JL-seq / JL-seq (11649)
- Conditions
- Rare Genetic Disease
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 1,950 participants (estimated)
- Lead sponsor
- Istituto Giannina GasliniUniversity, hospital or other
- Collaborators
- Istituto Italiano di Tecnologia
- Study start
- 11 Oct 2021 (actual)
- Primary completion
- 31 Dec 2026 (estimated)
- Study completion
- 31 Dec 2026 (estimated)
- First posted
- 16 Oct 2026 (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 study involves two centers, only one of which recruits clinical cases. It is funded by the two participating centers according to their respective areas of expertise, in particular through research projects that will make use of sequencing services at IIT, as well as through IGG's institutional research funding and clinical diagnostic budget.
The study is therefore a single-center, translational, open-label cohort study.
Biological samples from patients and their parents selected to undergo whole-exome sequencing (WES) or whole-genome sequencing (WGS) will be collected and stored within the respective Clinical Units of the Giannina Gaslini Institute, specifically in the DNA Biobank and its associated repositories. Both blood sampling to obtain DNA samples that are not yet available and the use of existing DNA samples will be subject to the informed consent of the individuals concerned.
Appropriate DNA aliquots will be sent to IIT for sequencing after the samples have been pseudonymized using specific internal codes assigned by each IGG Clinical Unit. Any excess DNA remaining after completion of the sequencing procedures at IIT will be returned to the Gaslini Institute Biobank. Re-identification of the data associated with samples submitted for advanced genetic testing will only be possible by personnel designated by the heads of the respective Clinical Units who were responsible for sample collection. The same code, once linked to the corresponding Phenotips identifier, will be used to manage clinical and phenotypic data in the database to be established.
The genetic data obtained will be stored at the IGG-IIT Joint Genomics Lab in raw format (FASTQ) and made available to the IGG Bioinformatics Unit, which will process them into analysis-ready formats (BAM/CRAM/VCF) and compile the results into a report to be forwarded to the designated contacts in each respective clinical/genetics unit. At these units, the sample code will be decoded to enable communication of any resulting diagnosis to the referring clinicians and the family.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- 0 days to 17 years
- Sex
- All
- Age groups
- Child
- Study population
- The total number of subjects expected to be enrolled is approximately 1,600 and 350 samples for WES and WGS, respectively, over the 48-month study period.
Key inclusion criteria (4 listed)
- Patients affected by a rare genetic disease.
- Patients for whom a clinical and/or molecular diagnosis has not yet been established.
- The referring IGG clinician considers the clinical phenotype worthy of further investigation and suggestive of a genetic etiology.
- The family consents to participate in the study, together with the affected individual, including undergoing WES and/or WGS and authorizing the use of the resulting data.
Key exclusion criteria (2 listed)
- Failure to meet at least one of the inclusion criteria listed above.
- Previous whole-genome sequencing (WGS).
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Establishment of a Clinical and Genetic Database of Patients with Undiagnosed Rare Genetic Diseases
Time frame: Within 48 months from study initiation
Database of Clinical and Genetic Data from Patients with Undiagnosed Rare Genetic Diseases (RGDs)
1 secondary outcome
Increase in the Diagnostic Rate of Complex Rare Genetic Diseases (RGDs)
Time frame: Within 48 months from study initiation
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 16 Oct 2026.
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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.
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 Rare Genetic Disease, run by Istituto Giannina Gaslini at 1 site in Italy.
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 4 inclusion and 2 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: looking for participants now, as of the sponsor's last update on 16 Oct 2026. 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 Italy. 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?
This study is still under way. Results are not available in the source record yet.
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?
Establishment of a Clinical and Genetic Database of Patients with Undiagnosed Rare Genetic Diseases (time frame: Within 48 months from study initiation). 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 16 Oct 2026.