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Genetic Disease clinical trials

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NCT ID: NCT06435468 Not yet recruiting - Autoimmune Diseases Clinical Trials

Biocollection of Rare Pediatric-onset of Autoimmune and Autoinflammatory Diseases

GENIALII
Start date: July 2024
Phase: N/A
Study type: Interventional

Rare diseases are defined as those that affect one person in 2,000, or around three million people in France. The majority of rare diseases are caused by genetics and tend to be severe when they begin in childhood. Autoimmune and autoinflammatory diseases, such as systemic lupus, juvenile dermatomyositis, and juvenile idiopathic arthritis, are examples of rare pediatric diseases. While autoimmune diseases are characterized by an inappropriate adaptive immune response, autoinflammatory diseases involve an excess of the innate immune response. The precise mechanisms of these diseases are not yet fully understood, but recent research has led to advances in their diagnosis and identification, particularly in early onset and familial forms. However, the rarity of these diseases and limited availability of biological samples pose significant challenges. This study aims to create a biological collection, which includes primary cells (PBMC), DNA, RNA, lymphoblastic lines, and serum, that will help identify genetic and immunological abnormalities in rare autoimmune and autoinflammatory diseases through various research projects.

NCT ID: NCT06369974 Not yet recruiting - Genetic Disease Clinical Trials

Single Participant Study of an Experimental ASO Treatment for TUBB4A-related Leukodystrophy

Start date: June 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 TUBB4A associated leukodystrophy.

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: 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.

NCT ID: NCT06023472 Not yet recruiting - Infertility Clinical Trials

Microfluidic Chip vs Density Gradient Centrifugation on the Euploidy Rate of Pre-implantation Genetic Testing

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

Infertile women attending for PGT at the Centre of Assisted Reproduction and Embryology, Queen Mary Hospital and Kwong Wah Hospital will be recruited during ovarian stimulation for IVF. Subsequently, they will be randomly assigned on the day of oocyte retrieval by a laboratory staff into one of the following two groups in a 1:1 ratio : (1) the microfluidic chip group and (2) the density gradient centrifugation group for sperm preparation and subsequent use in fertilization. Other IVF procedures will be the same as the standard practice of the Centre. Both women and clinicians will be blinded from the group allocation i.e. a double blind study.

NCT ID: NCT05898009 Not yet recruiting - Breast Cancer Clinical Trials

Contribution of Oncogenetics in Breast Cancer in Reunion Epidemiology of Breast Cancer in Reunion: Study of the Reunion Mutation on BRCA2

CanSeR-OGen
Start date: August 22, 2023
Phase: N/A
Study type: Interventional

In mainland France, breast cancer is the most common cancer in women, with an estimated incidence of over 58,000 new cases. Even if breast cancer is a cancer with a good prognosis, it is responsible for more than 12,000 deaths per year (first cause of death by cancer in women in France). Breast cancer is a multifactorial disease, which results from the interaction between environmental, lifestyle, hormonal and genetic risk factors. In Reunion, more than 400 cases of breast cancer are diagnosed annually. As in mainland France, it is by far the most common cancer in Reunionese women, and its incidence continues to increase significantly since the age-standardized incidence rate increased by 28% between 2007 and 2017 to establish at 64.2/100,000 AP. Two studies carried out in patients carrying mutations in the breast-ovary predisposition genes in Reunion, showed that more than 50% of patients carrying BRCA mutation have a mutation specific to the Reunion population on the BRCA2 gene. These two studies, which confirm the genetic specificities of Reunion already described in other pathologies (Mucoviscidosis or Friedreich's Ataxia), suggest that this mutation could have a significant frequency in patients with breast cancer. Thus, evaluating the prevalence of this mutation in patients with breast cancer in Réunion would make it possible to adapt the indications for access to the oncogenetics consultation and the associated preventive measures

NCT ID: NCT04729361 Not yet recruiting - Genetic Disease Clinical Trials

CGH-array in Prenatal Diagnosis of Isolated Severe and Early Intra-uterine Growth Restriction

Start date: January 31, 2021
Phase:
Study type: Observational

According to french recommandations for IUGR management we have to propose a CGH-array analysis if the IUGR is severe (bellow the 3rd percentile) and early (in the second trimester). However there is no data to support this point of view.

NCT ID: NCT04248504 Not yet recruiting - Genetic Disease Clinical Trials

Digital Genetic Assistant (DGA) for Expanded Carrier Screening

Start date: February 1, 2020
Phase:
Study type: Observational

The DGA provides an end-to-end digital solution to the preconception carrier screening process from participant registration to receipt of the test results and their interpretations. These steps are provided using personalized animated videos.

NCT ID: NCT04014114 Not yet recruiting - Genetic Disease Clinical Trials

The Use of Digital Genetic Assistant (DGA) for Expanded Carrier Screening

Start date: April 2020
Phase:
Study type: Observational

The DGA provides an end-to-end digital solution to the preconception carrier screening process from participant registration to receipt of the test results and their interpretations. These steps are provided using personalized animated videos.

NCT ID: NCT03612310 Not yet recruiting - Genetic Disease Clinical Trials

Developing Protocols for Modelling of Genetic Diseases Using Induced Pluripotent Stem Cells

Start date: November 1, 2018
Phase:
Study type: Observational

Recent advances have shown that cells from human blood, skin and urine samples can be reprogrammed to become stem cells. These are called induced Pluripotent Stem Cells (iPSCs) and share many characteristics with embryonic stem cells, including an unlimited capacity for proliferation and the potential to become any cell in the body. Beneficially, the use of iPSCs avoids the ethical difficulties which surround embryonic stem cells and allows generation of iPSC lines which are disease representative. For example, we could take skin samples from an individual diagnosed with Huntington's disease and their unaffected sibling and using this technology, generate iPSC lines from both individuals. Using these iPSCs, we could produce disease affected cell populations from the affected and unaffected individuals, use these cells to research why specific cell populations are affected by disease and test new treatments to combat disease progression, essentially producing a 'disease in a dish'. This is just one example of many for which this technology could be applied. We can also utilise gene-editing techniques to generate isogenic controls or insert disease related mutations to assess disease phenotype. Although generation of iPSC lines has been robustly proven across multiple disease backgrounds, many aspects of their downstream use still remain to be determined. Particularly, robust protocols for directing iPSCs towards cell fates such as neurons or blood cells must be developed to fully realise application of iPSCs in disease modelling and drug screening. This study involves the collection of human blood, skin or urine samples from subjects bearing a range of genetic diseases alongside those from individuals who have not been diagnosed with a disease, as controls. These samples will be used to generate iPSC lines for development of differentiation and disease phenotyping protocols.