MOLECULAR BASIS OF LANGUAGE DEVELOPMENT AND ASSOCIATED DISORDERS

NCT06660108 | Recruiting

• 2 other identifiers: C23-79IDRCB
• Study Type: interventional
• Target: 50
• Locations: 1 country
• Sites: 3

Brief 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.

Conditions

Developmental Language Disorder

Outcome Measures

Primary Outcomes (1)

• Identification of CNV or SNV involved in neurodevelopmental disorders

  2 years

Study Arms (1)

DLD patient and relative

OTHER

Genetic: blood draw

Interventions

blood draw GENETIC

Multiple blood draw for genomic and transcriptomic investigations

DLD patient and relative

Eligibility Criteria

• Age: 5 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• 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.

You may not qualify if:

• 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).

Sponsors & Collaborators

• Institut National de la Santé Et de la Recherche Médicale, France: lead
• Imagine Institute: collaborator

Study Sites (3)

Hopital Sud Francilien

Corbeil-Essonnes, 91100, France

RECRUITING

Raymond Poincaré- Garches

Garches, 92380, France

RECRUITING

Hopital Necker

Paris, 75015, France

RECRUITING

Related Publications (1)

• Ormieres C, Lesieur-Sebellin M, Siquier-Pernet K, Delplancq G, Rio M, Parisot M, Nitschke P, Rodriguez-Fontenla C, Bodineau A, Narcy L, Schlumberger E, Cantagrel V, Malan V. Deciphering the genetic basis of developmental language disorder in children without intellectual disability, autism or apraxia of speech. Mol Autism. 2025 Feb 13;16(1):10. doi: 10.1186/s13229-025-00642-8.

  PMID: 39948625 DERIVED

MeSH Terms

Conditions

Language Development Disorders

Interventions

Blood Specimen Collection

Condition Hierarchy (Ancestors)

Language Disorders; Communication Disorders; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Signs and Symptoms; Pathological Conditions, Signs and Symptoms

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques

Central Study Contacts

Vincent Cantagrel, PhD

CONTACT

33 142754237; vincent.cantagrel@inserm.fr

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER GOV
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 24, 2024
• First Posted: October 26, 2024
• Study Start: March 25, 2025
• Primary Completion (Estimated): March 25, 2027
• Study Completion (Estimated): March 25, 2028
• Last Updated: April 20, 2026

Record last verified: 2025-04

Locations

FR (3)