Alport Syndrome News and Research

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Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities.
People with Alport syndrome experience progressive loss of kidney function. Almost all affected individuals have blood in their urine (hematuria), which indicates abnormal functioning of the kidneys. Many people with Alport syndrome also develop high levels of protein in their urine (proteinuria). The kidneys become less able to function as this condition progresses, resulting in end-stage renal disease (ESRD).

Genetic analysis reveals hidden causes of chronic kidney disease in adults

Chronic kidney disease (CKD) is extremely prevalent among adults, affecting over 800 million individuals worldwide.

3 Apr 2024

New, one-stop method developed to avoid de novo genetic disease in embryos

De novo variants (DNVs), genetic mutations that were not previously identifiable in the family history of one of two prospective parents, may cause disease in any children they have.

31 Aug 2021

Anti-diabetic drug metformin inhibits disease progression in Alport syndrome mouse model

Researchers from Kumamoto University have found that the anti-diabetic drug metformin significantly prolongs the survival of mice in a model that simulates the pathology of non-diabetic chronic kidney disease (ND-CKD) by ameliorating pathological conditions like reduced kidney function, glomerular damage, inflammation and fibrosis.

15 Apr 2021

Large-scale analysis of Alport syndrome reveals the effectiveness of existing treatments

A large-scale analysis of the clinical characteristics of Alport syndrome in Japanese patients has revealed that the effectiveness of existing treatment with ACE inhibitors and/or angiotensin receptor blockers (RAS inhibitors) varies depending on the type of mutation in the syndrome's causal gene (COL4A5).

7 Aug 2020

Analysis of causative protein genotype can help predict Alport syndrome severity

A Japanese research team has successfully developed a system to predict the severity of Alport syndrome, a serious hereditary kidney disease that occurs in about 1 out of 5,000 people in the US. Patients with Alport syndrome have abnormalities in the causative protein, type IV collagen, that often lead to chronic renal dysfunction requiring dialysis.

6 Apr 2020

Scientists demonstrate an in vitro kidney model

Kidneys work to constantly filter blood and remove toxins from the body. Conditions such as chronic kidney disease are characterized by a reduced ability to perform this essential function.

14 Aug 2019

Disease-modifying therapy for Alport syndrome still remains an unmet need

Alport syndrome is a hereditary type IV collagen disease that leads to progressive proteinuria, renal fibrosis, and kidney failure.

13 Jun 2019

Study finds that several existing anti-cancer drugs may work in part by binding to RNA

Bolstering the notion that RNA should be considered an important drug-discovery target, scientists at Scripps Research have found that several existing, FDA-approved anti-cancer drugs may work, in part, by binding tightly to RNA, the regulators of the basic activities of life within cells.

30 Jun 2018

Novel screening tool aids search for curative kidney treatment

Researchers have developed a screening tool for identifying compounds that restore functionality of the protein that is dysfunctional in Alport syndrome.

9 Mar 2018

Extracellular vesicles can be used to effectively delay progression of kidney damage

Researchers have demonstrated for the first time that extracellular vesicles - tiny protein-filled structures - isolated from amniotic fluid stem cells (AFSCs) can be used to effectively slow the progression of kidney damage in mice with a type of chronic kidney disease.

15 Dec 2017

Regulus reports net loss of $7.2 million for fourth quarter 2015

Regulus Therapeutics Inc., a biopharmaceutical company leading the discovery and development of innovative medicines targeting microRNAs, today reported financial results for the fourth quarter and full-year ended December 31, 2015 and provided a summary of recent corporate highlights.

23 Feb 2016

Kumamoto University researchers identify protein that limits severity of Alport syndrome

Researchers from Kumamoto University, Japan have identified a protein that limits the severity of Alport syndrome, a type of genetic kidney disease. The finding can provide clues that point toward new therapeutic approaches for Alport syndrome.

11 Feb 2016

Variant signs worldwide exclusive license and development agreement with L&F Research

Variant Pharmaceuticals, Inc., an emerging pharmaceutical company focusing on rare diseases and other specialty conditions with limited or sub-optimal therapeutic options, announced today a worldwide exclusive license and development agreement with L&F Research LLC to advance development of Variant's lead product, VAR 200.

20 Dec 2015

Ember Therapeutics reports initial results from BMP-7 Phase II trial in patients with moderate osteoarthritis of the knee

Ember Therapeutics, Inc., a privately held, New York-based biopharmaceutical company that is developing targeted therapies for osteoarthritis, kidney fibrosis, and other indications using Bone Morphogenetic Protein (BMP)-7, announced today initial results from the Phase II(a) trial of local BMP-7 administration in patients with moderate osteoarthritis of the knee.

20 Oct 2015

Regulus Therapeutics begins RG-012 Phase I clinical study for treatment of Alport syndrome

Regulus Therapeutics Inc., a biopharmaceutical company leading the discovery and development of innovative medicines targeting microRNAs, announced today that dosing has begun in a first-in-human Phase I clinical study of RG-012, a single stranded, chemically modified oligonucleotide that binds to and inhibits the function of microRNA-21 ("miR-21").

4 Jun 2015

Regulus' RG-012 receives orphan medicinal product designation in EU for treatment of Alport syndrome

Regulus Therapeutics Inc., a biopharmaceutical company leading the discovery and development of innovative medicines targeting microRNAs, announced today that the European Commission has granted orphan medicinal product designation for RG-012, a single stranded, chemically modified oligonucleotide that binds to and inhibits the function of microRNA-21 ("miR-21") for the treatment of Alport syndrome, a life-threatening genetic kidney disease with no approved therapy.

25 Mar 2015

Regulus Therapeutics reports net loss of $22.2 million for fourth quarter 2014

Regulus Therapeutics Inc., a biopharmaceutical company leading the discovery and development of innovative medicines targeting microRNAs, today reported financial results for the fourth quarter and year ended December 31, 2014, including a summary of recent corporate highlights.

19 Feb 2015

Regulus Therapeutics reports top-line results from RG-101 clinical study for HCV treatment

Regulus Therapeutics Inc., a biopharmaceutical company leading the discovery and development of innovative medicines targeting microRNAs, today announced top-line results from the 4 mg/kg cohort and additional results from the 2 mg/kg cohort in a completed clinical study evaluating RG-101, a wholly-owned, GalNac-conjugated anti-miR targeting microRNA-122 ("miR-122"), for the treatment of hepatitis C virus infection ("HCV").

9 Feb 2015

Alport syndrome: an interview with Dr Paul Grint, CMO, Regulus

Alport Syndrome was first described by a physician called Cecil Alport, back in the late 1920s. It's a genetic disease that affects a certain type of collagen involved in the functioning of the kidney, the ear, and the eye.

1 Dec 2014

New preclinical study shows RG-012 may provide therapeutic benefit for Alport syndrome patients

Regulus Therapeutics Inc., a biopharmaceutical company leading the discovery and development of innovative medicines targeting microRNAs, today announced that positive new preclinical data was presented on RG-012 for the treatment of renal dysfunction in Alport syndrome patients at the American Society of Nephrology's Kidney Week 2014 meeting being held November 11-16, 2014 in Philadelphia, PA.

18 Nov 2014