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

Rare Diseases Clinical Trial

Official title:

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

Clinical Trial Details — Status: Not yet recruiting

Administrative data

• NCT number: NCT04152876
• Other study ID #: PON MISE n. F/050011/01/X32
• Status: Not yet recruiting
• Start date: October 31, 2019
• Est. completion date: July 31, 2022

Study information

• Verified date: November 2019
• Source: Neuromed IRCCS
• Contact: Diego Centonze, MD
• Phone: +39 0865915212
• Email: centonze[@]uniroma2.it
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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

Recruitment information / eligibility

• Status: Not yet recruiting
• Enrollment: 300
• Est. completion date: July 31, 2022
• Est. primary completion date: July 31, 2021
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: N/A and older

Eligibility

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

Related Conditions & MeSH terms

• Genetic Diseases, Inborn
• Rare Diseases

Locations

Country	Name	City	State
Italy	IRCCS Neuromed	Pozzilli

Sponsors (2)

Lead Sponsor	Collaborator
Neuromed IRCCS	Institute of Genetics and Biophysics CNR

Country where clinical trial is conducted

Italy, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Identification of genetic variants responsible for rare diseases	Analysis of exome sequencing data; annotation of genetic variants; selection of variants present in cases and absent in controls	Two years