Functional Genomics of Rare Genetic Diseases: Realization of Innovative Tools With High Diagnostic Power

• Conditions: Rare Diseases

• Registration Number: NCT04152876
• Lead Sponsor: Neuromed IRCCS

Brief Summary

The project aims to improve the understanding of a significant group of rare diseases both from a genetic/diagnostic and clinical/experimental point of view and aims to develop one or more diagnostic protocols.

The study will be conducted through the application of complementary experimental strategies, ranging from the clinical, genetic and molecular characterization of the pathology to the search for rare variants and the development of cellular disease models.

Detailed Description

1. Clinical evaluation of patients and relatives

2. High throughput analysis of genetic variants in genome exomes

3. Genotype-phenotype association testing

4. Identification of genetic risk variants for rare diseases

Study Timeline

• Study Start: 2019-10-31
• Status Verified: 2019-11
• Study First Submitted: 2019-11-04
• Study First Submitted QC: 2019-11-04
• Last Update Submitted: 2019-11-04
• Study First Posted: 2019-11-05
• Last Update Posted: 2019-11-05
• Primary Completion: 2021-07-31
• Study Completion: 2022-07-31

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 300

Inclusion Criteria

• Patients affected by: SLA, Incontinentia Pigmenti type II, Rett Syndrome, Paget Disease, Pompe Disease, Immunodeficiency, Centromeric instability and Facial anomalies, Cortical malformations and malignant epileptic encephalopathies

Exclusion Criteria

• none

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Identification of genetic variants responsible for rare diseases	Two years	Analysis of exome sequencing data; annotation of genetic variants; selection of variants present in cases and absent in controls

Trial Locations

Locations (1)

IRCCS Neuromed; 🇮🇹 Pozzilli, Italy