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Genetic Disease clinical trials

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NCT ID: NCT06314490 Active, not recruiting - Genetic Disease Clinical Trials

Personalized Antisense Oligonucleotide Therapy for Rare Pediatric Genetic Disease: SCN2A

Start date: February 16, 2024
Phase: Phase 1/Phase 2
Study type: Interventional

This research project entails delivery of a personalized antisense oligonucleotide (ASO) drug designed for a single pediatric participant with SCN2A associated developmental epileptic encephalopathy

NCT ID: NCT06306521 Recruiting - Genetic Disease Clinical Trials

An Adaptive Clinical Trial of BeginNGS Newborn Screening for Hundreds of Genetic Diseases by Genome Sequencing

BeginNGS
Start date: February 29, 2024
Phase: N/A
Study type: Interventional

The goal of this clinical trial is to test a new method for newborn screening using whole genome sequencing, called BeginNGS. Parents will be approached to provide informed consent to enroll their newborns in prenatal, postnatal, and outpatient settings. The main questions this study aims to answer are: What is the utility of BeginNGS as compared to state newborn screening? What is the acceptability and feasibility of BeginNGS as compared to state newborn screening? What is the cost effectiveness of BeginNGS as compared to state newborn screening? Enrolled newborns will have a blood sample taken and will receive the BeginNGS test. Newborns will have also had the state newborn screening test.

NCT ID: NCT06284291 Recruiting - Epilepsy Clinical Trials

Transcranial Magnetic Stimulation (TMS) in Genetic Epilepsies

Start date: November 22, 2023
Phase: N/A
Study type: Interventional

Transcranial magnetic stimulation (TMS) uses electromagnetic induction as an efficient, painless, non-invasive method to generate a suprathreshold current at the level of the encephalon, and provide in vivo measurements of cortical excitability and reactivity at the level of the motor cortex (TMS-EMG) or the entire cortical mantle (TMS-EEG). This study proposes TMS measurements as a diagnostic tool in patients to understand mechanisms of epileptogenesis related to genetic mutations, and prognostic to guide and monitor precision treatments.

NCT ID: NCT06276348 Active, not recruiting - Genetic Disease Clinical Trials

Newborn Genomic Sequencing Pilot Study

Start date: March 13, 2023
Phase: N/A
Study type: Interventional

The goal of this clinical trial is to test a new method for newborn screening using whole genome sequencing, called BeginNGS. Newborns who are not suspected of having genetic diseases and who are admitted to the NICU at Rady Children's Hospital, San Diego, will be enrolled. The main questions this study aims to answer are: - What is the diagnostic yield of diagnostic whole genome sequencing (DWGS) in this population? - What is the diagnostic sensitivity and specificity of BeginNGS and whole exome sequencing (WES) as compared to DWGS? - What are the potential issues related to implementing DWGS in this population? Enrolled newborns will have a blood sample taken and will receive three tests: - DWGS - BeginNGS - WES

NCT ID: NCT06237790 Not yet recruiting - Hearing Loss Clinical Trials

A Comparative Analysis of Speech Perception Between Cochlear Implant Patients and DFNB9 Patients Receiving Gene Therapy

Start date: April 3, 2024
Phase:
Study type: Observational

This cohort study aims to explore the trends and differences in multidimensional perceptual levels of patients after cochlear implants or gene therapy, as well as to comprehensively assess the efficacy of gene therapy for congenital deafness, thus providing a reference for making a well-rounded postoperative rehabilitation protocol for gene therapy patients.

NCT ID: NCT06089954 Enrolling by invitation - Cancer Clinical Trials

Penn Medicine Biobank Return of Results Program

ROR
Start date: October 20, 2023
Phase: N/A
Study type: Interventional

The goal of this hybrid type 1 effectiveness-implementation study is to evaluate and compare different ways of delivering genetic research results to participants. The main questions the study aims to answer are: - Is sharing actionable genetic research results with participants through a multimedia patient-informed eHealth intervention (e.g. patient portal) no worse than sharing results by telephone or videoconference with a genetic counselor? - Will research participants access an eHealth educational intervention or chatbot education to learn about research results being offered and the option to decline learning their individual research results and how frequently participants choose to decline actionable research results? - Who benefits less and more from digital intervention with return of actionable research results and what barriers exist to using these tools for return of research results outside this study? Participants in the biobank will be offered digital tools to learn about research results being offered and the option to decline receiving these results. Those who don't decline and have an actionable result will be randomly assigned to receive their results with a genetic counselor or through an eHealth portal. Participants will complete surveys before and after receipt of results to understand patient experiences with these methods of education and return of results to determine if digital tools can be used to help ensure more patients get access to research results which could impact their health.

NCT ID: NCT06089863 Not yet recruiting - Genetic Disease Clinical Trials

Rehabilitation Program on Genetic and Degenerative Ataxia

RAPP
Start date: February 1, 2024
Phase: N/A
Study type: Interventional

Cerebellar ataxia is a pathology linked to the lesion of the cerebellum or the afferent and/or efferent cerebellar pathways. The aetiology can be an acquired cerebral lesion, following a chemical poisoning or a genetic degenerative lesion (for example : Friedreich's ataxia, spinocerebellar ataxias, etc.). As reported by the latest estimate available, genetic degenerative cerebellar ataxias affect approximately 6,000 patients in France (Orpha.net). Symptoms suffered by ataxic patients are : problems and gait disorders along with difficulties in coordination resulting in ataxia, uncoordinated movements. These symptoms cause a decrease in the quality of life on patients with spinocerebellar ataxia. The symptoms improvement linked to the cerebellar syndrome is based on rehabilitation that can be supplemented by use of technical aids. Current scientific knowledge confirms that intensive rehabilitation by physiotherapy and occupational therapy in patients with degenerative ataxias improves cerebellar symptoms. Nevertheless, the choice rehabilitation technique stay at the appreciation of the therapist. From the observation, the investigators have designed an intensive multidisciplinary rehabilitation program, called PAMPERO, with partner patients member of two genetic degenerative ataxia patient organisations. This 5-weeks program has been used in clinic during 3 years on 28 patients. It appears to be the only one in France. The preliminary results show a positive effect on ataxia symptom. Nevertheless, the duration of the benefice over time and the effect on the quality of life stay unknown. However, the quality of life is mainly affected by the participation restriction due to the risk of falling. The most frequent complaint from partner patient is the diminution of the social interaction resulting of the incapacity to move without risk. The present protocol aimed at evaluating the Rehabilitation Program in collaboration with partner patient on the symptom intensity, activity and quality of life on genetic and degenerative ataxia. This PAMPERO program's effect will be assessed by comparing the difference of Intensity of symptom measured by to Scale for the Assessment and Rating of Ataxia (SARA) at inclusion and 3 months after the end of rehabilitation.

NCT ID: NCT06081075 Recruiting - Genetic Disease Clinical Trials

Newborn Genomics Programme

Start date: January 15, 2024
Phase:
Study type: Observational

Genomic methods can significantly contribute to all facets of precision medicine, from diagnosis to prevention, therapeutic intervention, and management of acute and chronic illnesses. DNA based methods are already having a considerable impact across healthcare in fields that include: public health, infectious disease monitoring, acute and chronic disease, pharmacogenomics, prenatal testing and diagnosis, and therapeutic development. In this proposal, investigators are focusing on the application of genomic methods in precision medicine - specifically on rapid whole-genome sequencing of parents and children (i.e. a trio) for the identification of diseases that have genetic components. Goals Primary goal: is to provide safe rapid whole genome sequencing to Neonatal Intensive Care Unit/Pediatric Intensive Care Unit patients. Secondary goals: 1) Although several groups globally are implementing rapid sequencing of rare disease, these are predominantly in the research space, with many unanswered questions regarding the best way to implement them into a national healthcare system. Each country and their healthcare systems are unique, and valuable knowledge will be gained by implementing this process within a New Zealand context. As part of this the study will measure the impact on the individuals and families. 2) to expand the research team's understanding of non-coding disease-causing variants and methylation changes that contribute to severe disease in early life. Primary Aims 1. To incorporate long-read RNA sequencing data into the diagnostic rapid Whole Genome Sequencing pipeline to provide a direct measure of the functional outcome of the variants of clinical concern. 2. To measure the clinical utility of analysing non-coding variants in the diagnosis of critically ill children who do not have pathogenic, likely pathogenic, or variants of unknown significance for mendelian disorders. 3. To identify, in a real-world setting within the New Zealand health-care system, the clinical and economic effects of deploying rapid Whole Genome Sequencing-informed rapid precision medicine for critically ill children.

NCT ID: NCT06072079 Enrolling by invitation - Genetic Disease Clinical Trials

Structural Chromosome Rearrangements and Brain Disorders

Start date: December 20, 2019
Phase:
Study type: Observational

The project is focused on the detailed study of structural genomic variants (SVs). Such genetic mutations are in fact alterations in the DNA molecule structure and include copy number variants, inversions and translocations. A single event may affect many genes as well as regulatory regions and the specific phenotypic consequences will depend on the location, genetic content and type of SV. Many times, the specific disease-causing mechanism is not known. Here, we plan to study the molecular genetic behavior of structural variants as well as the underlying mutational mechanisms involved. First, we will use genome sequencing to pinpoint the chromosomal breakpoints at the nucleotide level, characterize the genomic architecture at the breakpoints and study the relationship between structural variants and SNVs. Second, we will study how structural variants impact gene expression. Finally, we will functionally explore the disease mechanisms in vivo using zebrafish and in vitro using primary patient cells and induced pluripotent stem cells. Our studies will focus on the origin, structure and impact of structural variation on human disease. The results will directly lead to a higher mutation detection rate in genetic diagnostics. Through a better understanding of disease mechanisms our findings will also assist in the development of novel biomarkers and therapeutic strategies for patients with rare genetic disorders.

NCT ID: NCT06048523 Not yet recruiting - Clinical trials for Nervous System Diseases

Prospective Cohort Study of Neurogenetic Diseases

CNGD
Start date: October 2023
Phase: N/A
Study type: Interventional

Neurogenetic diseases (NGD) represent rare and hereditary forms of neurological diseases. The goal of CNGD is to create a one-window approach for NGDs, to facilitate and accelerate participation in research projects through deep phenotyping and the availability of low-cost biological samples for research teams. It is positioned as a true hub allowing new connections between clinical and basic research teams and ultimately as an incubator for translational projects for NGDs, in order to be able to initiate therapeutic trials, the ultimate objective of clinical and translational research.