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Идёт набор NCT05901077

European Cystinosis Cohort

— Наблюдательное Cystinosis

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: Cystinosis. 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
Франция
Следующий шаг
Сохраните исследование, покажите его лечащему врачу и уточните актуальный статус у исследовательского центра. Расходы, документы и поездка →

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Обзор

Cystinosis is a generalized lysosomal storage disease with a reported incidence of about 1:180,000 live births. There are estimated 110-140 cases in France (approximately 500 in Western Europe). The disease is caused by mutations in the CTNS gene coding for cystinosin, a lysosomal carrier protein. The lysosomal cystine accumulation leads to cellular dysfunction in many organs. The first symptoms start at about 6 months of age. In the absence of specific therapy, end stage renal disease occurs between 6 and 12 years of age. Survival beyond this age is associated with the development of extra-renal complications. Renal transplantation and the availability of cystine-depleting medical therapy, cysteamine (EU/1/97/039/001, EU/1/97/039/003), have radically altered the natural history of cystinosis. Cystinosis is a good example of a "paediatric" disease where patients now survive into adolescence and adulthood. These individuals have complex, multisystem problems that require on-going care. Despite some progress in recent years there are still significant limitations in the knowledge of diagnostic and therapeutic procedures. A first European registry was launched in 2011, using the CEMARA application developed by the Banque Nationale de Données Maladies Rares (BNDMR, CNIL authorisation number: 1187326), allowing the collection of data from France, Belgium and Italy. The objective of the current study is to translate this database into a cohort study that will allow and facilitate the collection of a wider range of data including clinical, and personal data such as quality of life data, from an increased number of European countries, improve the monitoring, data-management and analysis of the data, offer the possibility for patients to actively participate to and benefit from the study by developing a module in which patients will enter their own data on quality of life with a direct feed-back on the general results. This project is a unique opportunity for building a consensual European academic cohort not based on company driven, "drug-oriented" objectives. The cohort will collect clinical details to analyse patient outcomes thus providing audit of patient care \& clinical effectiveness. It will be possible, through the cohort, to indicate where improvements need to be made and ultimately improve care to the highest standards.

Первичные конечные точки

  • Change in the number of renal replacement therapy (RRT) [Срок оценки: Through study completion, at 1 year, 2 year, 3 year]
  • Change in Estimated Glomerular Filtration Rate (eGRF) [Срок оценки: Through study completion, at 1 year, 2 year, 3 year]
Вторичные конечные точки (6)
  • Endocrine manifestations [Срок оценки: Through study completion, at 1 year, 2 year, 3 year]
  • Memory loss, cognitive defect, speech disorder with a Questionnaires [Срок оценки: Through study completion, at 1 year, 2 year, 3 year]
  • Seizure, stroke, motor defect, extrapyramidal movement disorder reported from patients files [Срок оценки: Through study completion, at 1 year, 2 year, 3 year]
  • Sensory neuropathy, neuroradiological signs, somnolence, collected by the physicians during the visits [Срок оценки: Through study completion, at 1 year, 2 year, 3 year]
  • Treatment compliance [Срок оценки: Through study completion, at 1 year, 2 year, 3 year]
  • Genetics [Срок оценки: At inclusion]

Критерии участия

Критерии включения

  • Confirmed diagnosis of cystinosis (based on cystine dosage, presence of crystals at eye examination or molecular diagnosis)
  • Signed informed consent

Критерии исключения

  • Patients not able to give their informed consent. No other criteria (patients with associated disease should be enrolled).

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

Здоровые добровольцы: Нет

Дизайн исследования

Модель наблюдения
Когортное

Центры проведения

Франция · 1 центр
  • RaDiCo-ECYSCO — Paris

Идентификаторы

NCT: NCT05901077 · C15-49

Первоисточники (государственные реестры)

Открыть это исследование на ClinicalTrials.gov ↗