MedTrace Logo

Functional Tests to Resolve Unsolved Rare Diseases. Rares.

NCT05696912 · Status: RECRUITING · Phase: NA · Type: INTERVENTIONAL · Enrollment: 50

Last updated 2024-02-21

No results posted yet for this study

Summary

Rares diseases are a heterogeneous group of conditions which need important tools for diagnosis.

The use of high-throughput sequencing is able to diagnose half of the patients. For the other part it is impossible to conclude due to the presence of variants of unknown significance (VOUS). Functional analysis are needed to bring strong argument to reclassify variants as pathogenic or benign. The main objective is to evaluate the diagnosis yield of this strategy.

Conditions

  • Intellectual Disability
  • Rubinstein-Taybi Syndrome
  • Cystic Fibrosis
  • Congenital Heart Defect
  • Periventricular Nodular Heterotopia
  • Neurodegeneration With Brain Iron Accumulation (NBIA)
  • Albinism

Interventions

GENETIC

Ex-vivo approach concerning 25 patients

Ex-vivo approach concerning 25 patients with blood sample in PAXgene tubes or skin biopsy and RNA-Seq analysis

GENETIC

In-vitro approach concerning 25 patients

In-vitro approach concerning 25 patients without specific samples needed for analysis in minigene or luciferase assay

Sponsors & Collaborators

  • University Hospital, Bordeaux

    lead OTHER

Principal Investigators

  • Vincent MICHAUD · University Hospital, Bordeaux

Study Design

Allocation
NA
Purpose
DIAGNOSTIC
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2023-01-30
Primary Completion
2025-02-28
Completion
2025-02-28

Countries

  • France

Study Locations

More Related Trials

Entities

Diseases

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 NCT05696912 on ClinicalTrials.gov