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

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.

Recruitment Status

UNKNOWN

Total Enrollment

300 participants

Study Classification

OBSERVATIONAL

Study Start Date

2019-10-31

Study Completion Date

2022-07-31

Brief Summary

Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.

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.

Related Clinical Trials

Explore similar clinical trials based on study characteristics and research focus.

Genomic Profiling of Genetic and Rare Diseases

NCT06926127

Rare Diseases Genetic Disease

RECRUITING NA

PREcision Diagnostics in Rare genetIC Diseases and Tumors - Long Read Sequencing

NCT06796751

Whole Exome Sequencing Rare Diseases

RECRUITING

Diagnostic Research in Patients With Rare Diseases -Solving the Unsolved Rare Diseases

NCT04024774

Rare Diseases

RECRUITING

Developing a Pipeline to Employ RNA-Seq as a Complementary Diagnostic Tool in Rare Diseases

NCT05996731

Atypical Hemolytic Uremic Syndrome Membranoproliferative Glomerulonephritis Autosomal Dominant Polycystic Kidney +1 more

RECRUITING NA

Identification of the Genetic Causes of Rare Diseases With Negative Exome Findings

NCT04315727

Rare Diseases Genetic Predisposition to Disease

RECRUITING NA

Detailed Description

Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.

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

See the medical conditions and disease areas that this research is targeting or investigating.

Rare Diseases

Study Design

Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.

Observational Model Type

FAMILY_BASED

Study Time Perspective

CROSS_SECTIONAL

Study Groups

Review each arm or cohort in the study, along with the interventions and objectives associated with them.

Cases

Patients with rare disease

No interventions assigned to this group

controls

Healthy parents and relatives

No interventions assigned to this group

Eligibility Criteria

Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.

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