Evaluating biomarkers for diagnosis and treatment monitoring in gaucher disease

Havva Yazıcı; Fehime Erdem Karapınar; Merve Yoldaş Çelik; Erhan Canbay; Ebru Canda; Ebru Demirel Sezer; Sema Kalkan Uçar; Eser Y. Sözmen; Mahmut Çoker

doi:10.19161/etd.1478953

TR EN

Gaucher Hastalığında Tanı ve Tedavi İzleminde Biyobelirteçlerin Değerlendirilmesi

Öz

Amaç: Bu çalışmanın temel amacı düzenli tedavinin anahtar hastalık belirteci Lyso-Gb1 üzerindeki etkisini araştırmaktır. Ayrıca bu araştırma, hasta grubunda splenektominin Lyso-Gb1 konsantrasyonları üzerindeki etkisini değerlendirmeyi amaçlamaktadır. Gereç ve Yöntem: Gaucher Hastalığı (GH) tanısı alan 37 hasta tedavi durumuna göre üç gruba ayrıldı: Tedavilerini tutarlı bir şekilde takip eden düzenli tedavi grubunda 28; düzensiz tedavi grubunda 6 ve henüz tedavi almayan grupta 3 hasta mevcuttu. GH olmayan 33 sağlıklı bireyden oluşan bir kontrol grubu da dahil edildi. Tedavi rejimi olarak enzim replasman tedavisi kullanıldı. Lyso-Gb1 seviyelerinin analizi, ölçümde yüksek hassasiyet sağlayan tandem kütle spektrometresi ile birleştirilmiş sıvı kromatografisi kullanılarak gerçekleştirildi. Bulgular: Lyso-Gb1 seviyeleri Gaucher hastalarında sağlıklı kontrol grubuyla karşılaştırıldığında anlamlı derecede yüksekti (p<0.05), bu da bunun spesifik bir biyobelirteç olma potansiyelini doğruluyor. Tedavi, Lyso-Gb1 seviyelerinde bir azalma ile ilişkilendirildi (p<0.05). Tedavi edilen Tip 1 ve Tip 3 GH arasında Lyso-Gb1 düzeyleri açısından anlamlı bir fark gözlenmedi (p>0,05). Özellikle splenektomi yapılan hastalarda, yapılmayanlara göre anlamlı derecede daha yüksek Lyso-Gb1 seviyeleri sergilendi (p<0.05). Sonuç: Bulgularımız Lyso-Gb1'in GH için spesifik bir biyobelirteç olarak kullanımını desteklemektedir. Tedavi edilen grupta tedavi öncesi Lyso-Gb1 seviyeleri bilinmemekle birlikte, sonuçlarımız Lyso-Gb1'in GD'de hastalığın ilerlemesini ve tedavi etkinliğini izlemedeki rolünü daha fazla aydınlatmak için daha büyük, boylamsal çalışmalara olan ihtiyacın altını çiziyor.

Anahtar Kelimeler

Evaluating biomarkers for diagnosis and treatment monitoring in gaucher disease

Abstract

Aim/Objective: The primary goal of this study is to explore the impact of consistent treatment on key disease marker, Lyso-Gb1. Additionally, this research aims to evaluate the influence of splenectomy on Lyso-gb1 concentrations within the patient group. Materials and Methods: 37 patients diagnosed with GD were categorized based on treatment compliance into three groups: 28 in the regular treatment group, who consistently followed their treatment; 6 in the irregular treatment group, with inconsistent treatment adherence; and 3 in the untreated group. A control group of 33 healthy individuals without GD was also included. Enzyme replacement therapy was utilized as the treatment regimen. The analysis of Lyso-Gb1 levels was performed using liquid chromatography coupled with tandem mass spectrometry, ensuring high precision in measurement. Results: Lyso-Gb1 levels were significantly higher in GD patients compared to the healthy control group (p<0.05), affirming its potential as a specific biomarker. Treatment was associated with a reduction in Lyso-Gb1 levels (p<0.05). No significant difference in Lyso-Gb1 levels was observed between treated patients with Type 1 and Type 3 GD (p>0.05). Notably, patients who underwent splenectomy exhibited significantly higher Lyso-Gb1 levels than those who did not (p<0.05). Conclusion: Our findings support the utility of Lyso-Gb1 as a specific biomarker for GD. While pre-treatment Lyso-Gb1 levels in the treated group remain unknown, our results underscore the need for larger, longitudinal studies to further elucidate Lyso-Gb1's role in monitoring disease progression and treatment efficacy in GD.

Keywords

Supporting Institution

This research was supported by Pfizer. The sponsor had no role in the design, writing, execution, or interpretation of the results.

Ethical Statement

Ethics approval and consent to participate: The study was approved by the Medical Research Ethics Committee of Ege University Faculty of Medicine (Document Number: 19-12T/14). Written informed consent was obtained from the participants or the parents of participants under 18 to include in the study. The study was done by the principles outlined in the Helsinki Declaration (1964). Consent for publication: A written informed consent for the publication of this manuscript, including identifying images and other personal and clinical details, was obtained from the participants and parents or legal guardians of all participants under the age of 18. Competing interests: None of the authors has any competing interests in the manuscript.

Thanks

The authors thank the patients and/or their parents for helping us improve the care of the GD patients through the blood samples and the use of information collected through our electronic health record systems.

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Details

Primary Language

English

Subjects

Pediatric Metabolism Diseases

Journal Section

Research Article

Authors

Havva Yazıcı ^*
0000-0002-2564-7420
Türkiye

Fehime Erdem Karapınar
0000-0002-5597-9290
Türkiye

Merve Yoldaş Çelik
0000-0003-0015-9807
Türkiye

Erhan Canbay
0000-0003-0948-1675
Türkiye

Ebru Canda
0000-0002-9175-1998
Türkiye

Ebru Demirel Sezer
0000-0002-6900-3539
Türkiye

Sema Kalkan Uçar
0000-0001-9574-7841
Türkiye

Eser Y. Sözmen
0000-0002-6383-6724
Türkiye

Mahmut Çoker
0000-0001-6494-9539
Türkiye

Publication Date

December 9, 2024

Submission Date

May 6, 2024

Acceptance Date

July 19, 2024

Published in Issue

Year 1970 Volume: 63 Number: 4

DOI

https://doi.org/10.19161/etd.1478953

IZ

https://izlik.org/JA64HK38RE

Cite

RIS / Bibtex

Vancouver

1.Havva Yazıcı, Fehime Erdem Karapınar, Merve Yoldaş Çelik, Erhan Canbay, Ebru Canda, Ebru Demirel Sezer, Sema Kalkan Uçar, Eser Y. Sözmen, Mahmut Çoker. Evaluating biomarkers for diagnosis and treatment monitoring in gaucher disease. EJM. 2024 Dec. 1;63(4):513-2. doi:10.19161/etd.1478953