Abstract
What is this study about?
Gaucher disease is a rare genetic condition. There are three types of Gaucher disease: type 1, type 2, and type 3 (GD3). Symptoms of GD3 include problems with the brain and spinal cord, bones, blood, enlarged liver and spleen, and slow growth. Symptoms have a great impact on the quality of life of people with GD3 and are known to cause loss of life in childhood. In Gaucher disease, people have two non-working copies of a gene called GBA, which tells the body how to make an enzyme called beta-glucosidase (which breaks down excess fats called sphingolipids). In Gaucher disease, people do not make enough beta-glucosidase enzyme, meaning sphingolipids build up inside cells, affecting many organs and systems of the body. Enzyme replacement therapy (ERT) is a treatment for Gaucher disease. Previous studies looking at ERT showed that treatment can greatly improve most symptoms and quality of life in people with Gaucher disease. How ERT may help people with GD3 is only available in small studies.
What was the aim of this study?
Researchers looked at long-term changes in the blood, spleen, liver, and growth in children and teenagers living with GD3 and how long they survived once they had started an ERT called imiglucerase. Researchers used data from a large global database called the International Collaborative Gaucher Group (ICGG) Gaucher Registry. The aim was to investigate if imiglucerase could improve long-term symptoms and prevent early loss of life.
What were the results of this study?
Low red blood cell counts (causing a condition called anaemia), low platelet (specialised blood cells that stop bleeding and bruising) counts, enlarged liver and spleen, and slow growth were the most common symptoms in people with GD3 before treatment. People with GD3 who had received imiglucerase had improved symptoms after 5 years of treatment. They also had a greater chance of living longer, with 92% of people alive after 5 years of treatment. These results show that the ERT imiglucerase helps to improve blood, spleen, liver, and growth symptoms, and most importantly that it is a life-prolonging treatment.
Clinical Trial Registration: NCT00358943 (ICGG Gaucher Registry) (ClinicalTrials.gov)
This is an abstract of the Plain Language Summary of Publication article.
To read the full Plain Language Summary of this article, click here to view the PDF.
Link to original article here
Financial disclosure
Amal El-Beshlawy has received honorarium from BMS and Roche; and honorarium, travel reimbursement and served on advisory boards for Novartis, ApoPharma and Sanofi. Anna Tylki-Szymanska has received speaker fees and travel fees from Sanofi and Takeda, as well as fees for participation on advisory boards and scientific committees for the ICGG Gaucher Registry (Sanofi). Nadia Belmatoug has received fees from Sanofi and Takeda for lectures, travel reimbursement, and participation on advisory boards and scientific committees for the ICGG Gaucher Registry (Sanofi) and the Gaucher Outcome Survey (Takeda). Pramod K Mistry is a member of the North American and International ICGG Gaucher Registry Advisory Boards (Sanofi) and has received research grants from Sanofi and travel support for lectures. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.
Writing disclosure
Writing support, funded by Sanofi, was provided by Katarina Kolaric, PhD of Envision Pharma Group.
Ethical conduct of research
All the people in the Registry have given written consent to their doctor for their information to be included in the International Collaborative Gaucher Group (ICGG) Gaucher Registry and to be used in studies.
Acknowledgments
The authors would like to thank the patients, physicians, and registry sites' staff who participate in the ICGG Gaucher Registry; Gabriela Maria Perichon, Pablo Bianculli, Kristin Leonberg, Danielle Dong, Jenny Carwile, Julie Batista, Joseph Bender and Carmen Silvia Garcia-Curiel (Sanofi) for their critical review of data analyses, content and editing of the manuscript; and the authors of the primary paper (Ashok Vellodi, Gregory A. Grabowski, Edwin H. Kolodny and Gerald F. Cox).
Competing interests disclosure
The authors have no competing interests or relevant affiliations with any organization or entity with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.