Clinical Research Directory

Using a Speech-Generating Device to Support Communication in Rare Genetic Conditions

Individuals with rare genetic conditions may experience a delay or loss of developmental skills. Many have limited verbal speech. The aim of this clinical trial is to examine how well a speech-generating device supports the communication skills of participants with a rare genetic condition. The speech-generating device is a communication program loaded onto an iPad. This is a crossover trial, meaning that each participant will receive both the treatment (device) and a control (usual care; no device) phase. The order in which each participant receives the device versus the usual care (no device) will depend on which group the participant is assigned to. The changes in communication in each phase will then be compared. During the trial, participants can expect to complete a series of assessments and attend a total of 2 x 1-hour therapy session per week for 6 weeks.

Exome and Genome Sequencing of DNA Samples, as Required by Specific Research Projects and the Diagnostic Needs of the Gaslini Institute, to Be Performed Within the Framework of the "Joint Genomic Lab" Established Between IGG and IIT

The study involves two centers, only one of which recruits clinical cases. It is funded by the two participating centers according to their respective areas of expertise, in particular through research projects that will make use of sequencing services at IIT, as well as through IGG's institutional research funding and clinical diagnostic budget. The study is therefore a single-center, translational, open-label cohort study. Biological samples from patients and their parents selected to undergo whole-exome sequencing (WES) or whole-genome sequencing (WGS) will be collected and stored within the respective Clinical Units of the Giannina Gaslini Institute, specifically in the DNA Biobank and its associated repositories. Both blood sampling to obtain DNA samples that are not yet available and the use of existing DNA samples will be subject to the informed consent of the individuals concerned. Appropriate DNA aliquots will be sent to IIT for sequencing after the samples have been pseudonymized using specific internal codes assigned by each IGG Clinical Unit. Any excess DNA remaining after completion of the sequencing procedures at IIT will be returned to the Gaslini Institute Biobank. Re-identification of the data associated with samples submitted for advanced genetic testing will only be possible by personnel designated by the heads of the respective Clinical Units who were responsible for sample collection. The same code, once linked to the corresponding Phenotips identifier, will be used to manage clinical and phenotypic data in the database to be established. The genetic data obtained will be stored at the IGG-IIT Joint Genomics Lab in raw format (FASTQ) and made available to the IGG Bioinformatics Unit, which will process them into analysis-ready formats (BAM/CRAM/VCF) and compile the results into a report to be forwarded to the designated contacts in each respective clinical/genetics unit. At these units, the sample code will be decoded to enable communication of any resulting diagnosis to the referring clinicians and the family.

Transcriptomic Analysis of Fibroblasts and Blood in Patients With Rare Diseases

This study aims to answer a key question in the field of rare genetic diseases by determining the prevalence of deleterious variants at RNA level in undiagnosed patients with intellectual disability and/or neonatal hypotonia. This study will put an end to diagnostic erraticism in a number of patients. Finally, the results of this study will make it possible to compare the two types of tissue used for RNAseq, with a view to facilitating the implementation of this analysis method in the diagnostic setting.

Research for Individualized Therapeutics in Rare Genetic Disease

The purpose of this research study is to identify individuals that have a rare genetic disease without an adequate therapeutic strategy that might be treatable with drug developed to target the disease-causing genetic alteration.