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Clinical Trial Details — Status: Not yet recruiting

Administrative data

NCT number NCT04152876
Other study ID # PON MISE n. F/050011/01/X32
Secondary ID
Status Not yet recruiting
Phase
First received
Last updated
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
Health authority
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

Study Design


Related Conditions & MeSH terms


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
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