Home Active Agrochemical IngredientAgrochemicals Collaborative research approach set to accelerate treatment of Alport syndrome

Collaborative research approach set to accelerate treatment of Alport syndrome

by admin
0 comment

Synopsis :

Despite diagnosis and treatment options improving for the rare kidney condition, further action is urgently required.

Kidney Research UK and the Stoneygate Trust have announced new Manchester-based research programme dedicated to the study and treatment of the rare kidney condition, Alport syndrome, which is to begin work in early 2022.

The Manchester-based research hub aims to accelerate research, transform early diagnosis, and develop specific treatments for the disease.


Collaborative research approach set to accelerate treatment of Alport syndrome

Alport syndrome is a rare genetic disorder, but is the second most common cause of inherited chronic kidney disease. It is caused by faults in the genetic code for a particular type of collagen protein, essential to the normal structure and function of the kidney’s filtering system. Disruption of this protein causes progressive loss in kidney function and can also cause hearing loss and eye problems. Diagnosis and treatment for Alport syndrome has improved in the last decade, though more progress is urgently needed.

“Rare diseases have an enormous impact on an individual’s life, and they do not attract the critical mass of researchers required to enable rapid improvements in treatment,” Professor Rachel Lennon, Professor of Nephrology at the University of Manchester, said. “By bringing together expertise in cell and matrix biology, genetics and clinical practice, we aim to improve genetic testing and to progress a range of therapy options to extend kidney survival in patients with Alport syndrome.”

Sandra Currie, chief executive of Kidney Research UK commented: “Embarking on this new collaborative way of working, we are tackling this issue head on by bringing together a wealth of facilities and expertise. With this new Hub, we have the potential to accelerate the discovery and testing of new treatments, and possibly even a cure through gene therapy.”

With support from Kidney Research UK and a £2.55m investment from the Stoneygate Trust, the Manchester-based hub will be fronted by Professor Rachel Lennon from the University of Manchester, in collaboration with Professor Daniel Gale from University College London and Professor Neil Turner from the University of Edinburgh.

It is hoped that the Alport Research Hub can be used as a model to tackle many different kidney diseases and conditions in the future.

About Alport syndrome

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).

What causes Alport syndrome?

Alport syndrome is an inherited disease, which means it is passed down through families.  It is caused by changes in your genes (mutations) to a protein called collagen. Collagen is important to the normal structure and function of the kidneys. Changes to collagen can also cause problems with the eyes and ears.  That’s because collagen helps maintain healthy tissue in the eyes and ears.

What are the genetic types of Alport syndrome?

There are three genetic types of Alport syndrome.

  • X-linked Alport syndrome (XLAS)
  • Autosomal recessive Alport syndrome (ARAS)
  • Autosomal dominant Alport syndrome (ADAS)

X-linked Alport syndrome: X-linked (related to the X chromosome) is the most common form of Alport Syndrome. About 80% of the people with this disease have the X-linked type. Without treatment, 90% of males develop kidney failure by 40 years old. Females develop kidney failure less frequently and more slowly.

Autosomal recessive Alport syndrome (ARAS):  This is when both parents carry the abnormal gene and both parents pass the abnormal gene to the child. Both copies of the abnormal gene are needed to cause the autosomal recessive type of Alport Syndrome.

Autosomal dominant Alport syndrome (ADAS): This happens when one parent has the disease and passes the abnormal gene to the child. In other words, only one copy of the abnormal gene is needed to cause the disease.

What are the signs and symptoms of Alport syndrome?

With all types of Alport syndrome the kidneys are affected. The tiny blood vessels in the glomeruli of the kidneys are damaged and cannot filter the wastes and extra fluid in your body. Many people with Alport syndrome also have hearing problems and abnormalities with their eyes.

Other signs and symptoms may include:

  • Blood in the urine (hematuria), the most common and earliest sign of Alport syndrome
  • Protein in the urine (proteinuria)
  • High blood pressure (hypertension)
  • Swelling in the legs, ankle, feet and around the eyes (called edema)

These signs and symptoms may differ, based on age, gender and inherited type of Alport syndrome.

How is Alport syndrome diagnosed?

Your healthcare professional will have to watch your signs, symptoms, and look at your family history to know if you have Alport syndrome. The following tests or exams may be done to help your healthcare professional make a diagnosis:

  • Urine test: A urine test will help find protein and blood in your urine.
  • Blood test: A blood test will help find levels of protein, and wastes in your blood.
  • Glomerular filtration rate (GFR): A blood test will be done to know how well your kidneys are filtering the wastes from your body.
  • Kidney biopsy:  In this test, a tiny piece of your kidney is removed with a special needle, and looked at under a microscope.
  • Hearing test: A hearing test will be done to see if your hearing has been affected.
  • Vision test: A vision test will be done to see if you vision has been affected.
  • Genetic test: This can help confirm the diagnosis and determine the genetic type of Alport syndrome you may have.

How is Alport syndrome treated?

Currently, there is no specific treatment for Alport syndrome. The goal is to treat the symptoms and help slow the progression of kidney disease. This may include:

  • ACE inhibitor or ARB medicines (medications to control high blood pressure)
  • Diuretics (water pills)
  • Limit sodium (salt) in your diet


For more Information: Sign in Websites for Agrochemical & Pharmaceutical Databases:

Website : https://www.chemrobotics.com/ (Agrochemical Databases)

Website : https://chemroboticspharma.com/  (Pharmaceutical Databases)

You may also like

Leave a Comment

This site uses Akismet to reduce spam. Learn how your comment data is processed.

Our Company

ChemRobotics is a global Scientific, Technical & Business data intelligence company, especially in the field of Pharmaceutical, Agrochemical, Veterinary and Fine Chemical.

ChemRobotics Times

Subscribe ChemRobotics for the latest updates in the Pharmaceutical, Agrochemical, Veterinary, and Fine Chemical Industries

Laest News

ChemRobotics Pvt. Ltd. © 2023, All Rights Reserved. 

Designed and Developed by Ample eBusiness