Natural History, Diagnosis, and Outcomes for Leukodystrophies
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: Leukodystrophy. 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 goals of this protocol is to diagnose, care for, and understand the clinical histories and outcomes of people with leukodystrophies.
Подробное описание
Inherited leukodystrophies affect close to 1 in 7500 children with mortality greater than 30%. Affected patients face additional serious medical complications including epilepsy, developmental regression, and intellectual disabilities. Diagnosis is difficult and requires the assistance of a specialist. Finally, identifying treatments and improving outcomes is complex.
The Western Leukodystrophy Project, which is part of the University of Utah and of Primary Children's Hospital, and which is a certified Leukodystrophy Care Network Center, provides a specialized resource for patients with leukodystrophies.
This clinical study assists with diagnosis of leukodystrophies; suggesting treatment options and implementing care guidelines, and improving outcomes for all patients by understanding the clinical histories and outcomes of affected patients..
Первичные конечные точки
- Morbidity [Срок оценки: Participants will be followed for the duration of the study (up to 20 years), with checks on average of once per year]
Вторичные конечные точки (10)
- Hospitalizations [Срок оценки: Participants will be followed for the duration of the study (up to 20 years), with checks on average of once per year]
- MRI of the brain [Срок оценки: Participants will be followed for the duration of the study (up to 20 years), with an MRI performed at presentation and then repeated on average once every 5 years]
- Diagnosis [Срок оценки: Participants will be tested at presentation, and then re-tested for the duration of the study (up to 20 years), with re-testing on average of once per three years]
- Response to bone marrow transplant [Срок оценки: Participants will be followed for the duration of the study (up to 20 years), with checks on average of once per year]
- Spasticity complications [Срок оценки: Participants will be followed for the duration of the study (up to 20 years), with checks on average of once per year]
- Respiratory complications [Срок оценки: Participants will be followed for the duration of the study (up to 20 years), with checks on average of once per year]
- Hypotonia complications [Срок оценки: Participants will be followed for the duration of the study (up to 20 years), with checks on average of once per year]
- Bulbar complications [Срок оценки: Participants will be followed for the duration of the study (up to 20 years), with checks on average of once per year]
- Cerebellar complications [Срок оценки: Participants will be followed for the duration of the study (up to 20 years), with checks on average of once per year]
- Language complications [Срок оценки: Participants will be followed for the duration of the study (up to 20 years), with checks on average of once per year]
Критерии участия
Критерии включения
- evidence by clinical exam, radiological findings, and/or testing, of an inherited leukodystrophy.
- be able to travel to the leukodystrophy clinic (at Primary Children's Hospital, Salt Lake City, Utah);
- be able to tolerate a general physical exam, and a neurological exam.
Критерии исключения
- unable to be evaluated at the University of Utah Hospital or Primary Children's Hospital;
- refusal to sign study consent form;
- evidence or finding of another non-genetic cause of their condition;
- Persons with known white matter disease or lesions related to: birth injury or prenatal injury, multiple sclerosis, trauma, infection, immunization, or post-infectious effects (e.g. ADEM- acute disseminated encephalomyelitis), metabolic disturbance (e.g. Central pontine myelinolysis), neoplasms, primary rheumatologic diseases (e.g. Systemic lupus erythematosis), stroke, hypoxic-ischemic injury, drug or toxin effect, seizures, or endocrine disturbance.
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
- Primary Children's Hospital — Salt Lake City
Идентификаторы
NCT: NCT03639285 · 00019596