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Transcriptomic Analysis of Fibroblasts and Blood in Patients With Rare Diseases

NCT07075107 · Status: RECRUITING · Phase: NA · Type: INTERVENTIONAL · Enrollment: 62

Last updated 2026-05-08

No results posted yet for this study

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

Interventions

PROCEDURE

Blood collection

Blood is collected in order to perform transcriptomic sequencing from blood

PROCEDURE

skin biopsy

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

Sponsors & Collaborators

  • Assistance Publique Hopitaux De Marseille

    lead OTHER

Study Design

Allocation
NA
Purpose
DIAGNOSTIC
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
0 Years
Max Age
99 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2026-03-09
Primary Completion
2029-04-30
Completion
2029-04-30

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT07075107 on ClinicalTrials.gov