Bartter Syndrome

New study reveals drivers of rare cancer and provides a possible alternative solution to surgery. The genetic code of a rare form of kidney cancer, called reninoma, has been studied for the first time. In the new paper, published today (25th September) in Nature Communications, researchers at the Wellcome Sanger Institute, Great Ormond Street Hospital and The Royal Free Hospital also revealed a new drug target that could serve as an alternative treatment if surgery is not recommended. There are around 100 cases of reninoma reported to date worldwide (1), and it is amongst the rarest of tumours in humans. Although it can usually be cured with surgery, it can cause severe hypertension or it can spread and develop into metastases. There are no existing medical treatments for reninoma and management involves surgery alone. Until now, it had been unknown what genetic error causes reninoma. In the new study, a collaboration between the Wellcome Sanger Institute and Great Ormond Street Hospital and The Royal Free Hospital, funded by The Little Princess Trust, researchers found that there is a specific error in the genetic code of a known cancer gene, NOTCH1, that is behind the development of this rare cancer. The team examined two cancer samples -- from a young adult and a child (2) -- with advanced genomic techniques, known as whole genome and single nuclear sequencing (3). Their findings suggest that the use of existing drugs targeting this specific gene is a possible solution to treating reninoma for patients where surgery is not a viable option. Taryn Treger, first author of the study and The Little Princess Trust Fellow at the Wellcome Sanger Institute, said: "Many cancerous tumours have already been deciphered with genomic technologies, however, this is not so true in rare cancers, particularly those affecting children. Our work aims to fill that gap. This is the first time that we have identified the drivers for reninoma and we hope that our work continues to pave the way towards new therapies for childhood cancers." Dr Tanzina Chowdhury, co-lead author of the study, at Great Ormond Street Hospital, said: "Rare kidney cancers known as reninomas do not respond to conventional anti-cancer therapies. The only known treatment at the moment is surgery. Our study shows that, actually, there is a specific and well-studied gene that drives this rare cancer. If we use already known drugs that affect this gene, we might be able to treat it without the need for an invasive technique such as surgery." Dr Sam Behjati, co-lead author of the study, Wellcome Senior Research Fellow at the Wellcome Sanger Institute and Honorary Consultant Paediatric Oncologist at Addenbrooke's Hospital, said: "Rare cancers are exceedingly challenging to study, and patients with such tumours may therefore not benefit from cancer research. Here, we have a powerful example of cutting-edge science rewriting our understanding of an ultra rare tumour type, reninoma, whilst delivering a finding that potentially has immediate clinical benefits for patients." Phil Brace, Chief Executive of The Little Princess Trust, said: "We are committed to funding research searching for more effective treatments for all childhood cancers and so we are delighted to hear of the discoveries that have been made. We also want to help researchers find kinder solutions for young people and so we are very pleased to hear there may be ways to treat this rare kidney cancer without the need for surgery." Notes: 1. Inam, R., Gandhi, J., Joshi, G., Smith, N. L. & Khan, S. A. Juxtaglomerular Cell Tumor: Reviewing a Cryptic Cause of Surgically Correctable Hypertension. Curr. Urol. 13, 7-12 (2019). 2. The samples came from a young child with a localised tumour from the UMBRELLA study and a young female adult with metastatic (lung) reninoma. 3. Whole genome sequencing is a method that analyses the entire genome of an organism. Single nucleus sequencing is a method that uses isolated nuclei -- the part of the cell that contains our DNA information -- instead of whole cells to understand genes and their functions.

Bartter syndrome is a rare genetic disorder that causes specific defects in kidney function. Over the past few years, it is observed that different terminologies have been used to describe Bartter syndrome. Some classify Bartter syndrome on the basis of its clinical appearance, whereas others classify it on the basis of its underlying mutated gene. On the basis of the underlying gene mutation, Bartter syndrome can be classified as Bartter syndrome type 1, type 2, type 3, type 4a and 4b and Gitelman syndrome. Presently, according to the National Organization for Rare Disorders (NORD), Bartter syndrome is classified under a new classification system, which is based upon the specific part of the kidney affected. This includes loop disorders, DCT disorders and combined DCT and loop disorders. Loop disorders include Bartter syndrome type 1 and type 2 and DCT disorders include Gitelman syndrome. The diagnosis of Bartter syndrome includes laboratory tests such as blood tests for determining serum electrolyte levels, especially renin and magnesium and aldosterone levels, and urine tests for determining the presence of prostaglandin E2 and urine electrolytes. In addition, molecular genetic testing is also used for the diagnosis of Bartter syndrome. Molecular genetic testing detects the mutations in specific genes, which causes Bartter syndrome. However, molecular genetic testing is only available at specialized laboratories as a diagnostic service. Bartter syndrome treatment requires lifelong administration of certain supplements and medications. Presently, there is no cure for Bartter syndrome; however, restoring the proper balance of fluids and electrolytes in the body with certain medication can effectively work as Bartter syndrome treatment. For more Insights into the Market, Request a Sample of this Report What is Driving the Market? The growing prevalence of kidney disorders and increasingly unhealthy lifestyle are the major factors driving the growth of the global Bartter syndrome treatment market. Moreover, the rising number of clinical trials is expected to drive the Bartter syndrome treatment market. Strong R&D and increasing awareness in low-middle income countries are further responsible for driving the growth of the global Bartter syndrome treatment market over the forecast period. Generally, Bartter syndrome affects both males and females in equal numbers. According to NORD, Bartter syndrome affects around one in 1,000,000 individuals in the overall population. Request Detailed Table of Content Here: Which Segment Dominates Global Market? Geographically, the global Bartter syndrome treatment market has been segmented into North America, Latin America, Europe, CIS & Russia, Asia Pacific excluding Japan (APEJ), Japan, and the Middle East and Africa (MEA). North America is anticipated to be the dominant market in the global Bartter syndrome treatment market, owing to the increasing prevalence of kidney disorders. Europe is expected to be the second-largest market in the global Bartter syndrome treatment market throughout the forecast period, owing to high awareness regarding health-related problems in the region. The Bartter syndrome treatment market in the Asia Pacific region is expected to grow with the maximum CAGR, mostly due to the growing geriatric population and increasing number of healthcare facilities in the region. Examples of some of the key players operating in the global Bartter syndrome treatment market include Abbott Laboratories, Novartis AG, Pfizer Inc., Eli Lilly and Company, Bristol-Myers Squibb Company and others. Key players operating in the global Bartter syndrome treatment market are majorly focusing on product launches through strategies such as mergers and acquisitions. 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