Specific Language and Learning Disorders (SLLD)TSLA ESNCT05939739
Study of the Value of Trio Exome Sequencing in the Etiological Assessment of Specific Non-syndromic Language and Learning Disorders
A study testing Blood samples, Consultation for results delivery and Study Humanities and Social Sciences in people with Specific Language and Learning Disorders (SLLD), run by Centre Hospitalier Universitaire Dijon at 1 site in France.
Trial summary
Specific language and learning disorders (SLLD) affect around 5-10% of school-aged children, or 1-2 child(ren) per class. SLLDs correspond to the impairment of a specific cognitive function and are divided into 5 categories: dyslexia, dysphasia, dyspraxia, dyscalculia and attention deficit hyperactivity disorder… Read more about this study
- Who is it for?
- Ages 3 to 40 years
- Conditions the study is for
- Specific Language and Learning Disorders (SLLD)
- What is being tested?
- Blood samples, Consultation for results delivery and Study Humanities and Social Sciences
- How many people
- 101 participants
- Where
- 1 siteFrance
- Study dates
- 7 Aug 2023to Jan 2027
- Phase
- Interventional
- 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 3 to 40 years
- All sexes
- No healthy volunteers
- Child, Adult
Who may be able to join
- Index case suffering from one or more severe learning disorders (requiring in-school help or intensive rehabilitation), justified by neuropsychological and/or speech therapy and/or occupational therapy assessments, reviewed by experts and supplemented if necessary within the framework of the study, and not yet having undergone genetic testing.
- Index case aged 3 to 40 years
- Sample may be taken from index case and 2 known biological parents
- Consent signed by the parents and by the index case if major
- Index case and parents covered by national health insurance
Who cannot join
- Index case and parents have a condition which, in the opinion of the investigator, would contraindicate the subject's participation in the study.
- Intellectual disability confirmed by neuropsychological testing or strongly suspected clinically in the index case and/or his/her parents
- Obvious syndromic diagnosis (syndrome or antecedents having definitely led to a developmental disorder)
- Persons deprived of liberty by judicial or administrative decision,
- Adults under guardianship,
- Persons residing in a health or social establishment
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- Patients in critical situations
- Pregnant, parturient or nursing women
- Previous array CGH and/or Fragile X testing or any other targeted genetic examination (except standard karyotype).
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
France1 site, 1 recruiting
- Recruiting
CHU Dijon Bourgogne
Dijon
Eleonore VIORA DUPONT, 03 80 29 53 13, eleonore.viora-dupont@chu-dijon.fr
About this study
Specific language and learning disorders (SLLD) affect around 5-10% of school-aged children, or 1-2 child(ren) per class. SLLDs correspond to the impairment of a specific cognitive function and are divided into 5 categories: dyslexia, dysphasia, dyspraxia, dyscalculia and attention deficit hyperactivity disorder (ADHD) (DSM-5). In recent years, real progress has been made in their clinical diagnosis and management, thanks to a better description of these disorders in the DSM-5 and the advent of rehabilitative treatments (neuropsychology, speech therapy, occupational therapy, orthoptics, etc.). SLLD can occur in a sporadic or familial context (sibling involvement, a symptomatic parent, other relatives who may mimic dominant inheritance with variable expressivity and incomplete penetrance).
It has long been suspected that SLLD is secondary to multifactorial inheritance, with a combination of frequent genetic variations and environmental factors. In France, in the absence of an obvious syndromic diagnosis, the current strategy is to prescribe array CGH, combined in girls with a search for fragile X syndrome (in boys, this syndrome leads to systematic intellectual disability, which does not justify its study in SLLD). A few genes have been described as being specifically involved in a small proportion of SLLD, most often with de novo variations or inherited from a symptomatic parent. There are no distinctive clinical features to guide targeted sequencing of these genes. Moreover, our recent experience shows that genes implicated in intellectual disability may also be involved in SLLD. Very few studies have been published in the literature evaluating the value of exome sequencing in SLLD. Only two studies have been identified, involving 10 and 43 patients with specific SLLD.
Read more
In view of the roll-out of the French Genomic Medicine Plan (PFMG 2025), it is important to set up a study aimed at assessing the value of genome-wide sequencing in the etiological work-up for SLLD.
Participation in the study consists of:
- an inclusion visit, where an additional blood sample will be taken during the baseline work-up
- a results visit (4 months after the inclusion visit)
Optional qualitative study: semi-structured interview 1 year after the inclusion visit proposed to 20 patients or families with a positive result and to 10 patients with a negative result.
- Being tested
- Blood samples, Consultation for results delivery, Study Humanities and Social Sciences
- Medical subject headings
- Learning Disabilities
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Blood samplesBiological
Samples collected during blood sampling for array CGH (1 EDTA tube for index case and 2 biological relatives)
Consultation for results deliveryOther
at 4 months
Study Humanities and Social SciencesOther
Interview offered to 20 families with positive results and 10 families with negative results
What is being measured
The primary outcome is the main question the study is designed to answer.
Identification of a genetic cause defined by the presence of at least one ACMG class 4 or 5 variant.
Measured: Through study completion, an average of 4 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted11 Jul 2023
- Study start7 Aug 2023
- Primary completionJan 2027 (estimated)
- Study completionJan 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Specific Language and Learning Disorders (SLLD)Studies 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
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Enrolment
- 101 participants (estimated)
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
- NCT05939739
- Sponsor's protocol ID
- DELANNE PHRCI 2021
- Acronym
- TSLA ES
- Status last verified
- Jun 2025
- First submitted
- 3 Jul 2023
- Last updated
- 17 Jun 2025
- 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 17 Jun 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Study of the Value of Trio Exome Sequencing in the Etiological Assessment of Specific Non-syndromic Language and Learning Disorders
- ClinicalTrials.gov ID
- NCT05939739
- Acronym / sponsor ID
- TSLA ES / DELANNE PHRCI 2021
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 101 participants (estimated)
- Lead sponsor
- Centre Hospitalier Universitaire DijonUniversity, hospital or other
- Study start
- 7 Aug 2023 (actual)
- Primary completion
- Jan 2027 (estimated)
- Study completion
- Jan 2027 (estimated)
- First posted
- 11 Jul 2023 (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.
Specific language and learning disorders (SLLD) affect around 5-10% of school-aged children, or 1-2 child(ren) per class. SLLDs correspond to the impairment of a specific cognitive function and are divided into 5 categories: dyslexia, dysphasia, dyspraxia, dyscalculia and attention deficit hyperactivity disorder (ADHD) (DSM-5). In recent years, real progress has been made in their clinical diagnosis and management, thanks to a better description of these disorders in the DSM-5 and the advent of rehabilitative treatments (neuropsychology, speech therapy, occupational therapy, orthoptics, etc.). SLLD can occur in a sporadic or familial context (sibling involvement, a symptomatic parent, other relatives who may mimic dominant inheritance with variable expressivity and incomplete penetrance).
It has long been suspected that SLLD is secondary to multifactorial inheritance, with a combination of frequent genetic variations and environmental factors. In France, in the absence of an obvious syndromic diagnosis, the current strategy is to prescribe array CGH, combined in girls with a search for fragile X syndrome (in boys, this syndrome leads to systematic intellectual disability, which does not justify its study in SLLD). A few genes have been described as being specifically involved in a small proportion of SLLD, most often with de novo variations or inherited from a symptomatic parent. There are no distinctive clinical features to guide targeted sequencing of these genes. Moreover, our recent experience shows that genes implicated in intellectual disability may also be involved in SLLD. Very few studies have been published in the literature evaluating the value of exome sequencing in SLLD. Only two studies have been identified, involving 10 and 43 patients with specific SLLD.
In view of the roll-out of the French Genomic Medicine Plan (PFMG 2025), it is important to set up a study aimed at assessing the value of genome-wide sequencing in the etiological work-up for SLLD.
Participation in the study consists of:
- an inclusion visit, where an additional blood sample will be taken during the baseline work-up
- a results visit (4 months after the inclusion visit)
Optional qualitative study: semi-structured interview 1 year after the inclusion visit proposed to 20 patients or families with a positive result and to 10 patients with a negative result.
Study design
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Parallel groups
- Masking
- None (open label)
Who may qualify
- Ages
- 3 to 40 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
Key inclusion criteria (5 listed)
- Index case suffering from one or more severe learning disorders (requiring in-school help or intensive rehabilitation), justified by neuropsychological and/or speech therapy and/or occupational therapy assessments, reviewed by experts and supplemented if necessary within the framework of the study, and not yet having undergone genetic testing.
- Index case aged 3 to 40 years
- Sample may be taken from index case and 2 known biological parents
- Consent signed by the parents and by the index case if major
- Index case and parents covered by national health insurance
Key exclusion criteria (9 listed)
- Index case and parents have a condition which, in the opinion of the investigator, would contraindicate the subject's participation in the study.
- Intellectual disability confirmed by neuropsychological testing or strongly suspected clinically in the index case and/or his/her parents
- Obvious syndromic diagnosis (syndrome or antecedents having definitely led to a developmental disorder)
- Persons deprived of liberty by judicial or administrative decision,
- Adults under guardianship,
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 samplesSamples collected during blood sampling for array CGH (1 EDTA tube for index case and 2 biological relatives) | Biological | – |
| Consultation for results deliveryat 4 months | Other | – |
| Study Humanities and Social SciencesInterview offered to 20 families with positive results and 10 families with negative results | Other | – |
Primary outcome
Identification of a genetic cause defined by the presence of at least one ACMG class 4 or 5 variant.
Time frame: Through study completion, an average of 4 months
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 17 Jun 2025.
- Individual participant dataSharing planned: No
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?
A study testing Blood samples, Consultation for results delivery and Study Humanities and Social Sciences in people with Specific Language and Learning Disorders (SLLD), 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 9 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 17 Jun 2025. 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?
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?
Contact Julian DELANNE (03 80 29 53 13, julian.delanne@chu-dijon.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Identification of a genetic cause defined by the presence of at least one ACMG class 4 or 5 variant. (time frame: Through study completion, an average of 4 months). 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 17 Jun 2025.