Tayvan'da IVS4 Mutasyonu Olan Fabry Hastalığı Hastalarında Agalsidase Beta ile Uzun Dönem Tedavi Sonuçları

Sade dilde özet

Bu çalışma, Tayvan'da GLA genindeki IVS4 mutasyonuna sahip Fabry hastalığı (Fabry disease) olan hastalarda Agalsidase beta ile uzun dönem tedavi sonuçlarını incelemektedir. Çalışmaya, farklı kohortlarda, tedavi geçmişine göre gruplandırılmış 18 yaş ve üzeri hastalar alınmaktadır. Çalışma faz uygulanmayan bir gözlem çalışması olup şu an katılımcı almamakta ancak devam etmektedir (active, not recruiting).

Yukarıdaki özet, resmî kaydın sade dile aktarılmış halidir. Orijinal İngilizce başlık referans için gösterilir.

Deney bilgileri

Faz

N/A

Durum

Devam ediyor, katılım kapalı

Sponsor

Sanofi

Başlangıç

13.09.2023

Tahmini bitiş

10.09.2026

Ülkeler

Taiwan

İlgili genler

Merkezler

• Taichung, Taiwan
• Tainan, Taiwan
• Taipei, Taiwan
• Taipei, Taiwan
• Taipei, Taiwan

Uygunluk kriterleri

Kriterler ClinicalTrials.gov kaydından orijinal İngilizce haliyle alınmıştır. Uygunluk kararını yalnızca deneyi yürüten ekip verebilir.

Inclusion Criteria:

\- Provide signed informed consent.

Cohort 1:

* Male or female Fabry disease patient with documented GLA IVS4 in medical record.
* Age ≥ 18 years old at the time of signing informed consent.
* The maximum proportion of female is 20% of cohort 1.
* Patient who has received agalsidase beta treatment for at least 6 months.
* The data of LVMI, LPWT, IVST and blood lyso-Gb3 concentration are all available within 6 months prior to agalsidase beta treatment initiation.

Cohort 2:

* Male or female Fabry disease patient with documented GLA IVS4 in medical record.
* Age ≥ 18 years old at the time of signing informed consent.
* The maximum proportion of female is 20% of cohort 2.
* Patient who plans to apply for the National Health Insurance Reimbursement for agalsidase beta medication.
* The data of LVMI, LPWT, IVST and blood lyso-Gb3 concentration are all available within 6 months prior to agalsidase beta treatment initiation.

Cohort 3:

* Male or female Fabry disease patients with documented GLA IVS4 mutation in medical record.
* Male patient is aged ≥ 30 years old and female patient is aged ≥ 40 years old at the time of signing informed consent.
* The maximum proportion of female is 20% of cohort 3.
* Patient who has never received agalsidase alpha or agalsidase beta treatment (ERT-naïve).
* Elevated blood lyso-Gb3.
* At least ONE of the following conditions documented in medical record:

  1. cardiac parameter abnormalities (e.g. via imaging, electrophysiology, or biomarker);
  2. at least one FD-related sign/symptom.
* The data of LVMI, LPWT, IVST and blood lyso-Gb3 concentration are all available within 6 months.
* Patients who are expected not to receive ERT or FD-specific treatment per investigator's judgement.

Exclusion Criteria:

* Any condition that, in the opinion of the Investigator, may interfere with patient's participation in the study, such as life expectancy of less than 6 months (e.g. diagnosed with malignancy, CAD)
* Fabry patients who have severe heart disease (NYHA Class IV) or severe myocardial fibrosis per investigator judgement
* Known non-Fabry disease infiltrative cardiomyopathy including amyloidosis
* Known non-GLA genetic (e.g., sarcomeric, metabolic mutations) hypertrophic cardiomyopathy.
* Patients who are receiving any Fabry disease-specific treatment (enzyme replacement therapy, chaperone therapy, substrate reduction therapy, or gene therapy) other than agalsidase beta for Fabry disease
* Pregnancy or suspected pregnancy
* Patient diagnosed with moderate to severe dementia
* Unstable patient condition as judged by investigator (e.g., hypertension, diabetes, and systematic disease)