RecruitingNot Applicable

MOLECULAR BASIS OF LANGUAGE DEVELOPMENT AND ASSOCIATED DISORDERS

France50 participantsStarted 2025-03-25

Plain-language summary

Developmental Language Disorder (DLD) refers to children who present with language difficulties that are not due to a known biomedical condition or associated with autism spectrum disorder (ASD) or intellectual disability. The prevalence of DLD is \~7%-8% or 2% if severe forms are considered. However, the clinical heterogeneity of language disorders, the presence of co-morbidities and the inconsistent terminology used for many years have hindered research and clinical practice. Distinguishing sub-groups of children with language problems is crucial when tackling the underlying genetic causes of this disease. Recently, several studies using high-throughput sequencing have better define the genetic basis of CAS but such studies focusing on DLD are limited. The investigation of more homogeneous cohorts of individuals that clearly distinguish DLD cases, from ID and not including children with CAS should improve our understanding of the genetic basis of this disorder. In this study, we aim to built and investigate a well-characterized cohort of DLD patients using pangenomic approaches to better define the molecular basis of this disorder. All individuals will be analyzed using chromosomal microarray analysis and whole genome sequencing. Multiple observations and preliminary results suggest strong links with the genetic basis of other neurodevelopmental disorders. The goal is to identify CNV or SNV as causative allele or risk factor and already known to be involved in other neurodevelopmental disorders as well as potential new variants.

Who can participate

Age range

5 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Patients Inclusion Criteria: * Eligible families included at least one child over five years old with a formal diagnosis of severe and isolated DLD according to Phase 2 CATALISE criteria . Patients have undergone age-appropriate speech, language and reading evaluations by a speech-language physician and cognitive evaluations by a neuropsychologist, as well as evaluation by a pediatric neurologist to identify co-occurring developmental disorders (ADHD, ASD…) and a medical geneticist for known genetic disorders and genetic testing recommendations. All children included received appropriate speech therapy for at least one year, with a progress report indicating the persistence of language difficulties. Exclusion Criteria: * Cognitive impairment with non-verbal intellectual quotient (IQ) below 2 SD assessed with the Wechsler Preschool and Primary Scale of Intelligence (WPPSI), or the Wechsler Intelligence Scale for Children (WISC-IV or V) according to the age-appropriateness, ASD, moderate to severe hearing loss, orofacial structural abnormalities, known neurological or genetic disorders at the initial assessment. None of the patients met the diagnostic criteria for CAS according to the ASHA (American Speech-Language-Hearing Association, 2007. Childhood apraxia of speech www.asha.org/policy).

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

Identification of CNV or SNV involved in neurodevelopmental disorders

Timeframe: 2 years

Trial details

NCT IDNCT06660108

SponsorInstitut National de la Santé Et de la Recherche Médicale, France

Sponsor typeOTHER_GOV

Study typeINTERVENTIONAL

Primary completion2027-03-25

Contact for this trial

Vincent Cantagrel, PhD

33 142754237 vincent.cantagrel@inserm.fr

View on ClinicalTrials.gov More Developmental Language Disorder trials