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Chromosome Disorders clinical trials

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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: NCT05735717 Recruiting - Clinical trials for Acute Myeloid Leukemia

MT2021-08T Cell Receptor Alpha/Beta Depletion PBSC Transplantation for Heme Malignancies

Start date: May 11, 2023
Phase: Phase 2
Study type: Interventional

This is a phase II, open-label, prospective study of T cell receptor alpha/beta depletion (α/β TCD) peripheral blood stem cell (PBSC) transplantation for children and adults with hematological malignancies

NCT ID: NCT05714592 Recruiting - Clinical trials for Myeloproliferative Neoplasm

Evaluation of Optical Genome Mapping in Phi Negative Myeloproliferative Neoplasia in the Detection of Acquired Cytogenetic Abnormalities

MYELOCARTOCH
Start date: January 27, 2023
Phase: N/A
Study type: Interventional

Standard cytogenetics (CBA +/- FISH) is of diagnostic and prognostic interest in Ph- MPN. However, its value is limited by the low frequency of detected abnormalities. The development of tools to increase the sensitivity of detection of chromosomal alterations is therefore particularly adapted to these pathologies. Optical genome mapping (OGM) is a high resolution "long read" technique that allows the identification of structural and copy number variations at the whole genome level. Several recent studies suggest that OGM is a future tool for cytogenetic characterization of haematological disorders. Its ability to describe structural abnormalities, including balanced ones, represents a major advantage over currently used technologies. Thus, OGM seems to be the key tool for cytogenetics of haematological malignancies in the coming years, making it possible to replace, under certain conditions, not only karyotype and FISH, but CMA and even RT-MLPA for the search for fusion transcripts, thus filling in the gaps in these techniques while maintaining their advantages. To define the place of this technology in Ph- MPN, the investigators will perform a OGM analysis on patients with Ph-MPN for whom bone marrow exploration is scheduled. These results will be compared with those of standard cytogenetics (CBA +/- FISH).

NCT ID: NCT05657860 Recruiting - Obesity Clinical Trials

Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome

PWS-GXR
Start date: December 17, 2020
Phase: Phase 4
Study type: Interventional

This is a placebo-controlled clinical trial to assess whether Guanfacine Extended Release (GXR) reduces aggression and self injurious behavior in individuals with Prader Willi Syndrome (PWS). In addition, the study will establish the safety of GXR with a specific focus on metabolic effects.

NCT ID: NCT05547555 Recruiting - Infertility Clinical Trials

Invasive PGT-A Embryo Selection Versus Non Invasive PGT-A Assisted Embryo Selection

Start date: October 2022
Phase:
Study type: Observational

This is a prospective randomised study of the evaluation of the clinical IVF results after invasive PGT-A embryo selection versus Non-invasive PGT-A assisted embryo selection in subfertile women.

NCT ID: NCT05545995 Recruiting - Infertility Clinical Trials

Time Lapse Assisted Embryo Selection Versus Non Invasive PGT-A Assisted Embryo Selection

Start date: October 2022
Phase:
Study type: Observational

This is a prospective randomised study of the evaluation of the clinical IVF results after time lapse assisted embryo selection versus Non-invasive PGT-A assisted embryo selection in subfertile women.

NCT ID: NCT05456048 Completed - Clinical trials for Refractory Acute Myeloid Leukemia

Influence of Molecular Abnormalities on Response of VAH vs. VEN+HMA in RR-AML

Start date: December 3, 2018
Phase:
Study type: Observational

The aim of this study is to reveal the influence of gene mutations on the treatment response of the regimen of HHT combined with Venetoclax plus AZA versus venetoclax plus HMA in the salvage therapy of RR-AML.

NCT ID: NCT05425953 Recruiting - Clinical trials for Cardiovascular Diseases

Endocrine, Metabolic, Cardiovascular and Immunological Aspects of Sex Chromosome Abnormalities in Relation to Genotype

EMKISCA
Start date: June 13, 2022
Phase:
Study type: Observational

Observational study of 160 patients with sex-chromosome abnormalities and 160 matched controls. Blood, fat, muscle, skin, buccal swaps, urine will be collected and analyzed for DNA, RNA and methylation patterns. The goal is to associated genotype and epigenetic changes with the phenotype of patients with sex-chromosome abnormalities. Patients participate in questionaries, dexa-scan of bones, fibroscan of liver, ultra sound of testicles and blood will be analyzed for organ specific blood work as well as immunological and coagulation components.

NCT ID: NCT05187377 Enrolling by invitation - Clinical trials for Autism Spectrum Disorder (ASD)

A Controlled Trial of Growth Hormone in Phelan-McDermid Syndrome and Idiopathic Autism

Start date: January 19, 2022
Phase: Phase 2
Study type: Interventional

This clinical trial will use growth hormone as a novel treatment for Phelan-McDermid syndrome (PMS) and idiopathic autism. A double-blind, placebo-controlled crossover trial design will be used in 30 children with idiopathic autism and 15 children with PMS to evaluate the the effects of growth hormone on visual evoked potentials (VEPs), socialization, language, and repetitive behaviors. The researchers expect to provide evidence for the feasibility of using VEPs in PMS, and to show support for growth hormone in ameliorating clinical symptoms of ASD.

NCT ID: NCT05105685 Completed - Clinical trials for Growth Hormone Treatment

Effectiveness of Recombinant Human Growth Hormone Therapy for Children With PMS

Start date: June 14, 2020
Phase: Phase 1/Phase 2
Study type: Interventional

In summary, this piot study with 6 participants shown that recombinant human growth hormone (rhGH) has a positive effect on the treatment with PMS. In addition, This study indicated that rhGH can improve PMS symptoms via increase the level of serum insulin-like growth factor-1 (IGF-1) and insulin-like growth factor binding protein 3 (IGFBP-3). RhGH may be low cost, more accessible, alternative treatment for PMS.