Natural History, Diagnosis, and Outcomes for Leukodystrophies
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 600
- 试验地点
- 1
- 主要终点
- Morbidity
研究概览
简要总结
The goals of this protocol is to diagnose, care for, and understand the clinical histories and outcomes of people with leukodystrophies.
详细描述
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..
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Other
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •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.
排除标准
- •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.
结局指标
主要结局
Morbidity
时间窗: Participants will be followed for the duration of the study (up to 20 years), with checks on average of once per year
Determine rates of morbidity
次要结局
- MRI of the brain(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)
- Spasticity complications(Participants will be followed for the duration of the study (up to 20 years), with checks on average of once per year)
- Respiratory complications(Participants will be followed for the duration of the study (up to 20 years), with checks on average of once per year)
- Bulbar complications(Participants will be followed for the duration of the study (up to 20 years), with checks on average of once per year)
- Hospitalizations(Participants will be followed for the duration of the study (up to 20 years), with checks on average of once per year)
- Diagnosis(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)
- Cerebellar complications(Participants will be followed for the duration of the study (up to 20 years), with checks on average of once per year)
- Response to bone marrow transplant(Participants will be followed for the duration of the study (up to 20 years), with checks on average of once per year)
- Hypotonia complications(Participants will be followed for the duration of the study (up to 20 years), with checks on average of once per year)
- Language complications(Participants will be followed for the duration of the study (up to 20 years), with checks on average of once per year)
研究者
Josh Bonkowsky
Professor, Principal Investigator
University of Utah