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Идёт набор NCT06573723

Institutional Registry of Rare Diseases

— Наблюдательное Rare Diseases Amyloidosis Sarcoidosis Phacomatosis

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: Rare Diseases, Amyloidosis, Sarcoidosis, Phacomatosis. 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
Аргентина
Следующий шаг
Сохраните исследование, покажите его лечащему врачу и уточните актуальный статус у исследовательского центра. Расходы, документы и поездка →

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Официальное название

Institutional Registries of Rare Diseases at Hospital Italiano de Buenos Aires (HIBA)

Обзор

The goal of this observational study is to create a single macro registry system with data collection on common clinical features, grouping the different rare diseases (RD). Moreover, the specific goals are to generate an alert system for possible cases of RD with data from the electronic medical record, to describe the occurrence of RD in the evaluated population, to characterize the population, to describe patterns of diagnosis and treatment of RD present at the time, and to explore patient-reported outcomes.

Подробное описание

Rare Diseases (RD) pose a health challenge due to their complexity and low prevalence, generating a burden in terms of morbidity and mortality and costs.

The fragmentation of data on these diseases makes it difficult to understand them comprehensively. Therefore, the creation of a macro institutional registry that brings together information on RD would facilitate research in this field.

The registries are organized systems of systematic data collection of a large number of patients quickly and efficiently on a particular disease at a given time.

The main difficulty of the registries is the guarantee of the quality of their data.

The main objectives of the registry are:

Understand risk factors and prognosis. Evaluate the diagnostic and therapeutic comparison with current standards. Advance knowledge of the disease to optimize the assessment, treatment and monitoring of patients.

Analyze the effectiveness of new therapies. Studying differences between populations. Quickly estimate the morbidity, mortality and resource utilization associated with a disease entity.

Examine the course of a disease Formulate novel hypotheses for further prospective studies.

Первичные конечные точки

  • Overall Survival Rate [Срок оценки: From date of enrollment/ diagnosis until the date of death/ last follow up, assessed up to 5 years.]
  • Mortality Rate [Срок оценки: From date of enrollment/ diagnosis until the date of death, assessed up to 5 years.]
  • Time to First Treatment [Срок оценки: From date of diagnosis until the initiation of first treatment, assessed up to 12 months.]
  • Demographic and Epidemiologic Profile [Срок оценки: At baseline, assessed at the time of enrollment.]
  • Clinical Characteristics and Disease Progression [Срок оценки: From date of enrollment until the end of the study, assessed up to 5 years.]
  • Treatment Modalities Received [Срок оценки: From the initiation of first treatment until the last recorded intervention, assessed up to 5 years.]
  • Treatment Response [Срок оценки: From the initiation of treatment until documented disease progression or treatment cessation, assessed up to 5 years.]
  • Incidence of Treatment-Related Adverse Events [Срок оценки: From the initiation of treatment until 12 months after the last dose, assessed up to 5 years.]

Критерии участия

Критерии включения

  • Clinical and/or molecular diagnosis of any of the following rare diseases: Amyloidosis, Sarcoidosis, Phacomatosis, Pheochromocytoma, Paraganglioma, Von Hippel-Lindau Disease, Immunoglobulin G4-Related Disease, Demyelinating Diseases, Inborn Errors of Metabolism, Eosinophilic Gastrointestinal Disorders, Hypertrophic Cardiomyopathy, Gaucher Disease, Congenital Adrenal Hyperplasia, Hereditary Angioedema, Pulmonary Hypertension, Wilson Disease, Vascular Anomalies, Mastocytosis, Multiple Endocrine Neoplasia, Inflammatory Bowel Diseases, Prader-Willi Syndrome, Hirschsprung Disease, or Cushing Syndrome.
  • Must be followed at Hospital Italiano de Buenos Aires.

Критерии исключения

\- Refusal to participate in the study or in the informed consent process.

Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.

Здоровые добровольцы: Нет

Дизайн исследования

Модель наблюдения
Когортное

Центры проведения

Аргентина · 1 центр
  • Hospital Italiano de Buenos Aires — Buenos Aires

Публикации

  • Griggs RC, Batshaw M, Dunkle M, Gopal-Srivastava R, Kaye E, Krischer J, Nguyen T, Paulus K, Merkel PA; Rare Diseases Clinical Research Network. Clinical research for rare disease: opportunities, challenges, and solutions. Mol Genet Metab. 2009 Jan;96(1):20-6. doi: 10.1016/j.ymgme.2008.10.003. Epub 2008 Nov 13. PMID 19013090
  • Stoller JK. The Challenge of Rare Diseases. Chest. 2018 Jun;153(6):1309-1314. doi: 10.1016/j.chest.2017.12.018. Epub 2018 Jan 8. PMID 29325986
  • Gliklich RE, Dreyer NA, Leavy MB, editors. Registries for Evaluating Patient Outcomes: A User's Guide [Internet]. 3rd edition. Rockville (MD): Agency for Healthcare Research and Quality (US); 2014 Apr. Report No.: 13(14)-EHC111. Available from http://www.ncbi.nlm.nih.gov/books/NBK208616/ PMID 24945055

Идентификаторы

NCT: NCT06573723 · 7014 · 12332

Первоисточники (государственные реестры)

Открыть это исследование на ClinicalTrials.gov ↗