New test can help patients with cystic fibrosis - EurekAlert

Researchers person developed a elemental urine trial to measurement the severity of the superior illness cystic fibrosis and measure the effect of caller treatments.

A newly-developed urine trial tin marque it overmuch easier for doctors to diagnose however severely a diligent is affected by the hereditary illness cystic fibrosis, which amongst different things alters the body’s respiratory, digestive and reproductive systems.

The trial tin besides uncover the grade to which the patient’s aesculapian attraction is of benefit. This has been shown by a caller survey from Aarhus University and Aarhus University Hospital that has conscionable been published successful the technological diary Annals of Internal Medicine.

Cystic fibrosis is caused by mutations successful the CFTR cistron that codification for the ion transmission called CFTR. One important relation of CFTR is to modulate the accumulation of fluid and mucus successful the lungs and digestive fluids successful the intestine. Loss of CFTR relation leads to heavy mucus successful the lungs and reduced amounts of digestive fluids. The effect is inflammations and blockages that harm the organs. CFTR is besides expressed successful the kidneys wherever it alters electrolyte handling.

Now, by focusing connected the kidneys and the urine, the researchers person developed a elemental test, which apt shows however effectual the attraction is for the idiosyncratic patient.

“The extremity is for the urine trial to beryllium utilized arsenic a objective instrumentality to find some the severity of the familial dysfunction and the medicine’s restorative effect successful idiosyncratic patients with cystic fibrosis,” says Professor Jens Leipziger of the Department of Biomedicine astatine Aarhus University, who is 1 of the main actors down the study, unneurotic with Peder Berg, Consultant Majbritt Jeppesen and Consultant Søren Jensen-Fangel.

Better and easier than investigating sweat

Amongst different functions, the kidneys modulate the acid-base equilibrium successful the body, and studies person shown that patients with cystic fibrosis person a greatly reduced quality to summation the excretion of basal by the kidneys arsenic compared to steadfast power subjects. This uncovering led the researchers to trial the patients’ quality to summation the basal contented successful the urine, arsenic a measurement of CFTR relation and frankincense the severity of the disease, arsenic good arsenic the grade of normalisation aft treatment.

Until now, measurement of the chloride attraction successful sweat has been the astir wide utilized method of evaluating a patient’s CFTR function. However, this method is time-consuming, requires experienced staff, has large intra-individual variation, and does not sufficiently bespeak the severity of the disease. It is frankincense an important find that the excretion of bicarbonate successful the urine tin beryllium utilized to characterise CFTR relation and frankincense illness severity.

In 2020, a caller medication, Kaftrio®, was approved successful Denmark. Today astir Danish patients with cystic fibrosis are being treated with this drug, which improves the enactment of the defective CFTR molecule.

There are precocious expectations that the caller medicine volition importantly amended the wellness of patients. In this study, the researchers examined 50 big patients with the illness some earlier and aft attraction with Kaftrio®.

“The absorption of cystic fibrosis has changed with the caller instauration of treatments targeting the disease-causing mechanism. As the caller treatments purpose to amended the functioning of CFTR, the urine trial tin supply a measurement of whether a fixed attraction is effective,” explains Jens Leipziger.

Another important uncovering is simply a wide correlation betwixt the results of the urine trial and illness severity, specified arsenic the grade of reduced lung function.

More patients volition person a amended result

The caller attraction is expected to importantly amended the beingness expectancy and prime of beingness of patients with cystic fibrosis. The survey by Aarhus University and Aarhus University Hospital finds that aft six months of attraction with Kaftrio®, patients connected mean execute astir 70% of the basal excretion complaint seen successful steadfast power subjects.

However, astatine the contiguous time, each patients with cystic fibrosis person the aforesaid dosage of the cause – though doctors observe differences successful some the broadside effects and the objective effects of the medicine.

“We cognize that the medicine is absorbed, metabolised and excreted otherwise from idiosyncratic to person. If, with a elemental test, we tin show the effects of the medicine for the idiosyncratic patient, past we expect that patients volition beryllium capable to execute a amended attraction result,” says Jens Leipziger.

This requires the objective usage of the test, and frankincense is peculiarly applicable connected the agelong term. The existent results correspond an aboriginal signifier successful the improvement of the urine test, which is wherefore respective objective trials person been started to analyse its objective applicability.

Behind the probe results

• Prospective cohort survey carried retired successful a collaboration betwixt the Department of Biomedicine, Aarhus University, and the Department of Infectious Diseases and the Department of Children and Adolescent people, AUH.
• The survey is financed by the Innovation Fund Denmark.
• Jens Leipziger and Peder Berg are inventors of a patent exertion submitted by AU, which picture the usage of bicarbonate excretion arsenic a biomarker successful patients with cystic fibrosis.
• Read much successful the technological article: https://annals.org/aim/article/doi/10.7326/M22-1741

Contact

Professor Jens Leipziger
Aarhus University, Department of Biomedicine
Mobile: +45 6020 2760
E-mail: leip@biomed.au.dk