Functional Study to Indentify Genetic Etiology of Rare Diseases

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

1200 participants

Study Classification

INTERVENTIONAL

Study Start Date

2022-10-10

Study Completion Date

2045-10-10

Brief Summary

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Next generation sequencing (NGS) allows some better diagnostic results, particularly, in the rare diseases field. At a twenty five percent rate, those exams highlight some variants which are not yet described in human pathology. The relationship between a variant found inside a candidate gene and a pathology, is able to be confirmed by functional studies at a protein level. This study aims to build a biological collection to feed further functional studies to confirm the relationship between NGS identified variants, and the clinical signs and symptoms.

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Detailed Description

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Conditions

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Rare Diseases Genetic Disease

Study Design

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Allocation Method

NA

Intervention Model

SINGLE_GROUP

In addition to the standard clinical care, blood samples and/or urine samples and/or skin biopsy will be proposed to the included patient to carry out further genetic analysis.

Primary Study Purpose

DIAGNOSTIC

Blinding Strategy

NONE

Study Groups

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Study Arm

Specific interventions:

Blood samples, skin biopsy, urine collection or operational waste qualified as research sample.

Group Type EXPERIMENTAL

Skin biopsy, blood sample, urine sample

Intervention Type PROCEDURE

blood samples, urine samples, skin samples.

Interventions

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Skin biopsy, blood sample, urine sample

blood samples, urine samples, skin samples.

Intervention Type PROCEDURE

Eligibility Criteria

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Inclusion Criteria

Patient :

* Child or adult affected by a rare disease whose molecular functions are not known, or whose pathophysiologic mechanism are not fully understood.
* Patient included inside the BaMaRa (French rare disease national data bank) database dedicated to the rare diseases.
* Patient Affiliated to the French social security system.
* Patient consent form or legal representative consent form obtained.

Patient's parent :

* Parent of a patient affected by a rare disease whose molecular functions are not known, or whose pathophysiologic mechanism are not fully understood.
* Parent included in the BaMaRa database.
* Parent affiliated to the French social security system.
* Parent consent form obtained for himself/herself.

Patient's brother or sister :

* Brother or sister of a patient (underage or adult) affected by a rare disease whose molecular functions are not known, or whose pathophysiologic mechanism are not fully understood.
* Brother or sister included in the BaMaRa database.
* Brother or sister affiliated to the French social security system.
* Brother or sister consent form obtained for themselves or from their legal representative.