Trials / Unknown
UnknownNCT04152876
Functional Genomics of Rare Genetic Diseases: Realization of Innovative Tools With High Diagnostic Power
- Status
- Unknown
- Phase
- —
- Study type
- Observational
- Enrollment
- 300 (estimated)
- Sponsor
- Neuromed IRCCS · Academic / Other
- Sex
- All
- Age
- —
- Healthy volunteers
- Accepted
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
Conditions
Timeline
- Start date
- 2019-10-31
- Primary completion
- 2021-07-31
- Completion
- 2022-07-31
- First posted
- 2019-11-05
- Last updated
- 2019-11-05
Locations
1 site across 1 country: Italy
Source: ClinicalTrials.gov record NCT04152876. Inclusion in this directory is not an endorsement.