Single Large-scale mtDNA Deletion Syndrome Natural History Study
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 30
- 试验地点
- 2
- 主要终点
- Amylase
研究概览
简要总结
The Single Large-Scale mtDNA Deletion Sydrome: Natural History Study (PS-NHS) aims to collect data on standardized clinical outcomes, store data on the Champ Foundation Registry (CFR) and make this data available to researchers, clinicians, and industry partners who are studying SLSMDS to answer questions regarding the disease, including its causes, potential treatments, and other topics. A secondary aim is to analyze the data to understand research questions relating to the natural history of SLSMDS.
详细描述
This study is a prospective, observational, and longitudinal study intended to track the course of Pearson syndrome and single large scale mitochondrial DNA deletion syndromes (SLSMDS) to identify demographic, genetic, environmental, and other variables that correlate with the diseases development and outcomes. If available, retrospective clinical data may be accessed and used in analyses as well.
The PS-NHS will be conducted at two Center of Excellence sites: the Cleveland Clinic and Children's Hospital of Philadelphia (CHOP).
All PS-NHS data will be entered and stored on the CFR. The CFR exists entirely online.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Cross Sectional
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Have an active account on the Champ Foundation Registry (CFR) or be willing to create an account on the CFR.
- •Must have a genetic diagnosis of a single large-scale mitochondrial DNA deletion and must upload their genetic report to the CFR.
- •Have a clinical diagnosis or history of Pearson syndrome OR have symptom onset prior to five years of age and a genetic diagnosis of a single large-scale mitochondrial DNA deletion OR in the opinion of the principal investigator the participant is suitable for participating in this study based on clinical presentation.
- •Participants may be of any age or gender, and originate from any country.
排除标准
- 未提供
结局指标
主要结局
Amylase
时间窗: 2 years
Measured U/L
Phosphate
时间窗: 2 years
Measured mg/dL
Balance test
时间窗: 2 years
Standing balance test. May assessed with an accelerometer. Measured as time in seconds.
EKG PR interval
时间窗: 2 years
Calcium
时间窗: 2 years
Measured as pg/mL
Fructosamine
时间窗: 2 years
Measured mcmol/L
Scale for Assessment and Rating of Ataxia
时间窗: 2 years
the SARA is a physical exam that evaluates symptoms of incoordination. A physician will complete this with exam and it will take approximately 20 minutes to complete.
EKG QRS interval
时间窗: 2 years
Hearing testing
时间窗: 2 years
Assessing hearing frequency in both ears.
EKG rhythm
时间窗: 2 years
Lipid panel
时间窗: 2 years
Total cholesterol, HDL-C, LDL-C, triglycerides. Measured as mg/dL.
TSH
时间窗: 2 years
Measured uIUg/mL
PT/PTT
时间窗: 2 years
Measured in seconds
PEDI-CAT assessment
时间窗: 2 years
The PEDI-CAT is a computerized test that will ask participants about daily life tasks. This assessment will be given to patients 0 to 20 years old and will take approximately 15 minutes to complete.
International Pediatric Mitochondrial Disease Scale
时间窗: 2 years
The International Pediatric Mitochondrial Disease Scale is designed to monitor general disease progression associated with mitochondrial disease in children 0 to 18 years old. It includes a physical examination and evaluation of symptoms and functioning. The International Pediatric Mitochondrial Disease Scale will include a clinician-administered assessment that involves asking participants questions and evaluating participants' movements and responses, as well as a patient survey. The score is expressed as the percentage of items which were feasible to perform. Asterixes (\*) can be scored as well, the total score will change accordingly. E.g. if the parents are not able to indicate the presence of headache, the maximum score of the first domain changes from 103 to 73. If the child is not cooperative during the execution of domain 2 and 3, these items are omitted from the total score.
Coordination test
时间窗: 2 years
9-hold peg test. Measured as time in seconds.
2 or 6 minute walk test
时间窗: 2 years
2-minute walk test (2MWT) ages 3-6 yrs. or 6MWT (ages 6+). Measured as distance in meters.
IGF1
时间窗: 2 years
Measured ng/mL
Columbia Neurological Scale
时间窗: 2 years
The Columbia Neurological Scale is a neurological assessment that includes a general medical exam and a general neurological exam. It will take approximately 30 minutes to complete, and that includes evaluation of nerves, muscles and movement. Columbia Neurological Scale ranges from 0 (abnormal exam) to 76 (normal exam).
Strength test
时间窗: 2 years
Hand grip with Dynamometer. Measured as average value of lbs of grip strength.
Cortisol
时间窗: 2 years
Measured mcg/dL
PTH
时间窗: 2 years
Measured as pg/mL
Vitamin D
时间窗: 2 years
Measured ng/mL
FT4 and T3
时间窗: 2 years
Measured ng/dL
Fasting Plasma Glucose (FPG)
时间窗: 2 years
Measured mg/dL
Height
时间窗: 2 years
Assessed in cm
Orbitofrontal cortex (OFC)
时间窗: 2 years
Assessed in cm
Iron
时间窗: 2 years
Measured ug/dL
Number of transfusions
时间窗: 2 years
Frequency count of number of red blood transfusions and platelet transfusions
Amino acids (plasma and urine)
时间窗: 2 years
Interpretation recorded.
Ptosis/ophthalmoplegia
时间窗: 2 years
Assessed in mm
C-peptide
时间窗: 2 years
Measured ng/mL
Urine protein
时间窗: 2 years
Measured mg/dL
Reticulocytes
时间窗: 2 years
Percentage
Echo
时间窗: 2 years
Assessing valve abnormalities
BNP
时间窗: 2 years
Measured as pg/ml
Growth hormone
时间窗: 2 years
Measured ng/mL
HbA1c
时间窗: 2 years
Measured as a percentage
Lactate
时间窗: 2 years
measured mmol/L
Comprehensive Metabolic Panel
时间窗: 2 years
Electrolytes, transaminases, TP/Albumin, bilirubin, alk phos, creatinine, BUN, GFR. Measured mmol/L.
Lipase
时间窗: 2 years
Measured U/L
Stool elastase
时间窗: 2 years
ug Elastase/g stool
Weight
时间窗: 2 years
Assessed in kg
Complete blood count with differential
时间窗: 2 years
Ferritin
时间窗: 2 years
Measured in ng/mL
Glutathione
时间窗: 2 years
Measured uM
GDF15
时间窗: 2 years
pg/mL
ERG/OCT
时间窗: 2 years
Assessed as normal or abnormal
Magnesium
时间窗: 2 years
Measured mg/dL
Urine amino acids
时间窗: 2 years
Acylcarnitines (plasma)
时间窗: 2 years
Measured as mcmol/L
Organic acids (urine)
时间窗: 2 years
Interpretation recorded.
Visual exam
时间窗: 2 years
Assessing palpebral fissure in mm; distance in mm; eye movement in mm
Cystatin C
时间窗: 2 years
Measured mg/dL
Urine Electrolytes
时间窗: 2 years
Measured mg/dL
Facial dysmorphology assessment
时间窗: 2 years
Assessed with facial photography. Assessing ptosis and/or prominent cheeks/jowls.
次要结局
未报告次要终点