Official Title
Functional Genomics of Rare Genetic Diseases: Realization of Innovative Tools With High Diagnostic Power
Brief Title
Functional Genomics of Rare Genetic Diseases: Realization of Innovative Tools With High Diagnostic Power
Protocol ID
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 Period
-
Enrollment Count
300 participants
Eligibility Criteria
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
Filters
Rare Diseases
UNKNOWN
CHILD
ADULT
OLDER_ADULT