Rare Diseases Clinical Trial
Official title:
Functional Genomics of Rare Genetic Diseases: Realization of Innovative Tools With High Diagnostic Power
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.
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 |
Country | Name | City | State |
---|---|---|---|
Italy | IRCCS Neuromed | Pozzilli |
Lead Sponsor | Collaborator |
---|---|
Neuromed IRCCS | Institute of Genetics and Biophysics CNR |
Italy,
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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