Gaucher Disease Outcome Survey (GOS)
Ориентир для пациента и семьи
Простыми словами
Автоматическая сводка по структурированным данным реестра. Она помогает сориентироваться, но не заменяет официальный протокол или оценку врача.
- Что изучают
- Это наблюдательное исследование: исследуемое лечение участникам по протоколу не назначают.
- Кому может быть актуально
- Состояния в реестре: Gaucher Disease. Базовые параметры: Без ограничений · Все.
- Что важно проверить
- Возраст, диагноз и пол — только базовые ориентиры. Предыдущее лечение, анализы и другие обязательные условия указаны ниже в критериях участия.
- Где проводится
- США
- Следующий шаг
- Сохраните исследование, покажите его лечащему врачу и уточните актуальный статус у исследовательского центра. Расходы, документы и поездка →
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Обзор
The Gaucher Outcomes Survey (GOS) is an ongoing observational, international, multi-center, long-term Registry of Patients with Gaucher Disease irrespective of their treatment status or type of treatment received. No experimental intervention is involved. Patients undergo clinical assessments and receive care as determined by the patients' treating physician. The objectives of the registry include to evaluate the safety and long-term effectiveness of velaglucerase alfa, to characterize patients receiving velaglucerase alfa or other Gaucher Disease-specific treatments, to gain a better understanding of the natural history of GD and to serve as a database for evidence-based management of Gaucher Disease over time in real-life clinical practice.
Подробное описание
20 MAY 2020: The temporary enrollment stop of new patients into this study due to the COVID-10 pandemic has been lifted in one or more countries/sites, and the study is now again enrolling new patients. However, some countries/sites may still have paused the enrollment of new patients due to the pandemic.
24 APRIL 2020: Enrollment of new patients into this study has been paused due to the COVID-19 situation. The duration of this pause is dependent on the leveling and control of the COVID-19 pandemic.
Первичные конечные точки
- Number of Participants With Treatment-emergent Adverse Events (AEs) and Serious Adverse Events (SAEs) [Срок оценки: Baseline to one year for up to 20 years]
- Number of Participants With Infusion-related Reactions (IRRs) [Срок оценки: Baseline to one year for up to 20 years]
- Increase of Hemoglobin Concentration [Срок оценки: Baseline to one year for up to 20 years]
- Increase of Platelet Count [Срок оценки: Baseline to one year for up to 20 years]
- Decrease in Liver Volume [Срок оценки: Baseline to one year for up to 20 years]
- Decrease in Spleen Volume [Срок оценки: Baseline to one year for up to 20 years]
- Increase in Bone Mineral Density (BMD) [Срок оценки: Baseline to one year for up to 20 years]
Критерии участия
Критерии включения
- Patients of any age or gender with confirmed diagnosis (biochemical and/or genetic) of Gaucher disease
- Signed and dated written informed consent from the patient or, for patients aged <18 years (<16 years in the United Kingdom \[UK\]), their parent and/or legally authorized representatives (LAR), and assent of the minor where applicable. Legally authorized representatives are also applicable for cognitively impaired patients.
Критерии исключения
\- Patients currently enrolled in ongoing blinded clinical trials (drugs or devices; includes all blinded trials)
Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.
Здоровые добровольцы: Нет
Дизайн исследования
- Модель наблюдения
- Когортное
Центры проведения
США · 1 центр
- Central Contact — Lexington
Публикации
- Ain NU, Vaishnaw M, Mistry PK. Natural-History Mapping of Lysosomal Storage Disorders (LSDs): Gaucher Disease as a Model for Precision Care. J Inherit Metab Dis. 2026 Jan;49(1):e70128. doi: 10.1002/jimd.70128. PMID 41527340
- Revel-Vilk S, Ramaswami U, Pintos-Morell G, Hughes D, Nicholls K, Reisin R, Giugliani R, Goker-Alpan O, Istaiti M, Gill A, Scarpa M, Botha J. Safety analysis of self-administered enzyme replacement therapy using data from the Fabry Outcome and Gaucher Outcome Surveys. Orphanet J Rare Dis. 2025 Mar 28;20(1):145. doi: 10.1186/s13023-024-03416-2. PMID 40155993
- Elstein D, Belmatoug N, Bembi B, Deegan P, Fernandez-Sasso D, Giraldo P, Goker-Alpan O, Hughes D, Lau H, Lukina E, Revel-Vilk S, Schwartz IVD, Istaiti M, Botha J, Gadir N, Schenk J, Zimran A; GOS Study Group. Twelve Years of the Gaucher Outcomes Survey (GOS): Insights, Achievements, and Lessons Learned from a Global Patient Registry. J Clin Med. 2024 Jun 19;13(12):3588. doi: 10.3390/jcm13123588. PMID 38930117
Идентификаторы
NCT: NCT03291223 · GOS