The Rett Syndrome Global Registry
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: Rett Syndrome. 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 Rett Global Registry is a fully remote, global, caregiver-reported registry to collect information about caring for a loved one with Rett syndrome. In addition, caregivers have the ability to track and graph their loved one's symptoms and care strategies over time, store information for central access, and opt-in to complete medical record consolidation and summary. Qualified researchers and therapeutic developers may request access to de-identified aggregate information to further Rett research, or assist with clinical development planning to facilitate and expedite more effective clinical trials.
Подробное описание
The Rett Syndrome Global Registry is a fully remote, global, caregiver-reported registry intended to meet the needs of caregivers, clinicians and researchers, and therapeutic developers with the goal to increase our understanding of this rare disorder, support better outcomes for those with Rett syndrome, and facilitate improved therapeutic development. The Rett Global Registry allows families to provide data about their experience with Rett syndrome to improve their loved one's care while contributing to research. Participants may opt in to track and graph symptoms and care strategies over time to support day-to-day care. Participants may also access aggregate data to see similarities and differences in care strategies and consolidate their personal information in a central location. Participants may opt-in to complete medical record consolidation and summary that is centrally accessible, able to be shared with care providers, and utilized for research.
The registry database is designed and maintained to clinical trial standards and supports research and therapeutic development while meeting or exceeding federal privacy and confidentiality requirements. These datasets including caregiver-reported Rett syndrome progression, quality of life, at home day-to-day data, and consolidated medical records from office visits or hospital stays, provides unique and previously unused sources of information important for improving our understanding of Rett syndrome, allow additional avenues of research, and support therapeutic development. Specifically, the registry is intended to assist with clinical development planning, trial design, trial endpoints, and regulatory filings.
Первичные конечные точки
- Frequency of genetic mutation types and clinical diagnoses. [Срок оценки: 1 year]
- Caregiver report of developmental milestone achievement over time. [Срок оценки: 5 years]
- Caregiver report of symptom burden and development history over time. [Срок оценки: 5 years]
- Caregiver report of composition and frequency of co-morbidities over time. [Срок оценки: 5 years]
- Caregiver report of the composition and frequency of medication and over-the-counter treatments over time. [Срок оценки: 5 years]
- Caregiver report of the composition and frequency of physician specialty utilization and care received at Rett Clinics over time. [Срок оценки: 5 years]
- Caregiver report of the composition of the barriers to clinical trial participation over time. [Срок оценки: 5 years]
Вторичные конечные точки (4)
- Caregiver report of the frequencies of the level of effectiveness for therapies, diets and equipment use over time. [Срок оценки: 5 years]
- Caregiver report of the frequencies of the level of effectiveness, degree of side effect severity, and other symptom impacts of medications and over-the-counter treatments over time. [Срок оценки: 5 years]
- Caregiver report of the percent of individuals requiring emergency care and unplanned hospital admissions over time. [Срок оценки: 5 years]
- Percent of individuals using registry features, including tracking, medical record consolidation, central storage, and family connections over time. [Срок оценки: 5 years]
Критерии участия
Критерии включения
- Parent/caregiver must be willing and able to provide written informed consent electronically prior to entering data into the registry.
- Rett individuals of any age, living or deceased, must have a diagnosis of Rett syndrome and/or have a mutation in MECP2.
Критерии исключения
- Individuals who have a genetic mutation that is inconsistent with Rett syndrome or who have a different disorder.
- Individuals with MECP2 Duplication Syndrome
Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.
Здоровые добровольцы: Нет
Дизайн исследования
- Модель наблюдения
- Семейное
Центры проведения
США · 1 центр
- Rett Syndrome Research Trust — Trumbull
Идентификаторы
NCT: NCT04900493 · Rett-Registry