Functional Tests to Resolve Unsolved Rare Diseases. Rares.

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Clinical Phase

NA

Total Enrollment

50 participants

Study Classification

INTERVENTIONAL

Study Start Date

2023-01-30

Study Completion Date

2025-02-28

Brief Summary

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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.

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Detailed Description

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The main objective is the improvement of the diagnosis of rare genetic diseases. The investigator lab is expert for diagnosis of some rare diseases such as neurodevelopmental disorder, albinism, cystic fibrosis and congenital heart defect. Actually with implementation of high-throughput sequencing for diagnosis, a high number of genetic variants are found and need to be interpretated. The ACMG classification is used to classify variants with argument of variant frequency, predicted effect on protein and in-silico prediction. Functional evidence is a strong argument to help classify VOUS. The investigators propose the use of RNA-Seq, minigene and luciferase assay for study of VOUS to bring argument to classify them as benign or pathogenic.

Conditions

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

Study Design

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Allocation Method

NA

Intervention Model

SINGLE_GROUP

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

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

Primary Study Purpose

DIAGNOSTIC

Blinding Strategy

NONE

Study Groups

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Ex-vivo and In-vitro approach

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

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

Group Type OTHER

Ex-vivo approach concerning 25 patients

Intervention Type GENETIC

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

In-vitro approach concerning 25 patients

Intervention Type GENETIC

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

Interventions

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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

Intervention Type GENETIC

In-vitro approach concerning 25 patients

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

Intervention Type GENETIC

Eligibility Criteria

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Inclusion Criteria

* Minor and adult patient.
* Registered for the social security system.
* Informed consent signed by patient or parent of a minor patient.
* Patient affected by one of the rare diseases studied (albinism, congenital heart defect, cystic fibrosis, neurodevelopmental disease)
* Patient bearing variants of unknown significance (VOUS)