Transcriptomic Analysis of Fibroblasts and Blood in Patients With Rare Diseases

NCT07075107 | Not Yet Recruiting

• 2 other identifiers: RCAPHM23_0469ID-RCB
• Study Type: interventional
• Target: 62
• Locations: 1 country
• Sites: 1

Brief Summary

This study aims to answer a key question in the field of rare genetic diseases by determining the prevalence of deleterious variants at RNA level in undiagnosed patients with intellectual disability and/or neonatal hypotonia. This study will put an end to diagnostic erraticism in a number of patients. Finally, the results of this study will make it possible to compare the two types of tissue used for RNAseq, with a view to facilitating the implementation of this analysis method in the diagnostic setting.

Conditions

Rare Genetic Disease

Keywords

genetic analysis by high-throughput DNA sequencing; ARNseq; transcriptomic data; interpretation of sequence variants; Genomic Testing; RNA sequencing data; transcriptome analysis in rare disease; Rare diseases; Intellectual disability

Outcome Measures

Primary Outcomes (1)

• Patients with identified deleterious variant at RNA level

  The number of patients initially in diagnostic errancy in whom a deleterious variant at RNA level was identified by transcriptomic analysis (RNAseq).

  Through study completion, an average of 42 month.

Secondary Outcomes (1)

• Comparison of the number of variants obtained from blood and from fibroblasts

  Through study completion, an average of 42 month.

Study Arms (1)

ARNseq

EXPERIMENTAL

Patients enrolled in the experimental arm will be seen in consultation to sign the consent form and take samples at one of the participating investigational sites. Only one visit is planned as part of the study. This is the inclusion visit, during which skin and blood samples are taken. If a pathogenic variant explaining the phenotype is identified in a patient, the clinician following the patient will request confirmation of the variant by targeted analysis (Sanger sequencing) as part of the diagnosis. This result will be returned by the clinician who follows the patient as part of his or her usual care.

Procedure: Blood collection; Procedure: skin biopsy

Interventions

Blood collection PROCEDURE

Blood is collected in order to perform transcriptomic sequencing from blood

ARNseq

skin biopsy PROCEDURE

A biopsy of skin is performed in order to perform transcriptomic sequencing on fibroblasts obtained from the biopsy

ARNseq

Eligibility Criteria

• Age: 0 Years - 99 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• Male or female, aged 0-99 years
• Patient or parent has been informed about the study and has signed an informed consent form
• Genetic analysis by high-throughput DNA sequencing (gene panel, exome, genome) did not identify any abnormality explaining the patient's phenotype.
• If the patient's phenotype is suggestive of Prader-Willi syndrome or Angelman syndrome: a methylation anomaly test on chromosome 15 was negative.
• If the patient's phenotype is suggestive of fragile X syndrome: a repeat expansion analysis of the FMR1 gene was negative.
• If the patient's phenotype is suggestive of myotonic dystrophy type I, DM1: a repeat expansion analysis of the DMPK gene was negative.
• Patient entitled to or beneficiary of a social security scheme

You may not qualify if:

• Patient deprived of liberty
• Pregnant or breast-feeding woman,
• The person required to sign the consent form does not understand French
• Person under guardianship and/or curatorship

Sponsors & Collaborators

• Assistance Publique Hopitaux De Marseille: lead

Study Sites (1)

Assistance publique - hôpitaux de Marseille

Marseille, Provence-Alpes-Côt-d'Azue, 13354, France

Location

MeSH Terms

Conditions

Rare Diseases; Intellectual Disability

Interventions

Blood Specimen Collection

Condition Hierarchy (Ancestors)

Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Signs and Symptoms; Neurodevelopmental Disorders; Mental Disorders

Intervention Hierarchy (Ancestors)

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

Central Study Contacts

Svetlana GOROKHOVA, MD

CONTACT

33491388499; svetlana.gorokhova@ap-hm.fr

Study Design

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

Study Record Dates

• First Submitted: May 22, 2025
• First Posted: July 20, 2025
• Study Start: December 15, 2025
• Primary Completion (Estimated): April 30, 2029
• Study Completion (Estimated): April 30, 2029
• Last Updated: November 21, 2025

Record last verified: 2025-11

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)