Publications by authors named "M Rheault"
Article Synopsis
- IgA vasculitis (IgAV) is a pediatric disease characterized by skin and systemic symptoms, and researchers conducted comprehensive studies involving genome, transcriptome, and proteome analyses on a large cohort of IgAV patients and controls to better understand the disease mechanisms.* -
- Significant associations were found with specific genetic risk factors, including two novel non-HLA loci linked to IgA receptor functioning, which may contribute to disease development through altered immune responses.* -
- Systems biology approaches helped identify key regulatory networks and master regulators in myeloid cells, along with 21 genetic loci that overlap with IgA nephropathy, suggesting shared pathways in these related conditions.*
BACKGROUNDIt is unknown whether the risk of kidney disease progression and failure differs between patients with and without genetic kidney disorders.METHODSThree cohorts were evaluated: the prospective Cure Glomerulonephropathy Network (CureGN) and 2 retrospective cohorts from Columbia University, including 5,727 adults and children with kidney disease from any etiology who underwent whole-genome or exome sequencing. The effects of monogenic kidney disorders and APOL1 kidney-risk genotypes on the risk of kidney failure, estimated glomerular filtration rate (eGFR) decline, and disease remission rates were evaluated along with diagnostic yields and the impact of American College of Medical Genetics secondary findings (ACMG SFs).
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- Alport syndrome (AS) is a genetic disorder that leads to kidney failure, hearing loss, and eye issues due to faulty collagen production caused by mutations in COL4A3-5 genes.
- It encompasses a range of genetic inheritance patterns and is recognized as the "Alport spectrum disorder," making it the most common genetic cause of kidney disease.
- The severity and progression of AS can differ greatly based on factors like gender, inheritance type, and specific mutations, and the article will cover its epidemiology, diagnosis, prognosis, and treatment options.
Article Synopsis
- Sparsentan, a new dual endothelin angiotensin receptor antagonist, was evaluated in the ongoing phase 2 DUET trial for treating focal segmental glomerulosclerosis (FSGS) and showed a significant reduction in proteinuria over an 8-week period compared to irbesartan.
- The study involved 109 patients with FSGS and tracked their response to various doses of sparsentan (200, 400, and 800 mg/d) for up to 4.6 years, measuring urinary protein levels, glomerular filtration rate, and blood pressure at regular intervals.
- Results indicated that 52.8% of patients achieved partial remission within 9 months, which was linked to a
Article Synopsis
- The phase 3 DUPLEX trial is testing sparsentan, a new medication for patients with focal segmental glomerulosclerosis (FSGS), focusing on its safety and effectiveness.
- This global study involves 371 patients aged 8 to 75, comparing sparsentan 800 mg to irbesartan 300 mg, while analyzing their baseline characteristics related to FSGS severity.
- As the largest interventional study of its kind, DUPLEX aims to provide valuable insights into sparsentan's treatment effects across a diverse, worldwide patient population.