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.
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.
Study Type
OBSERVATIONAL
Enrollment
30
Cleveland Clinic
Cleveland, Ohio, United States
RECRUITINGChildren's Hospital of Philadelphia
Philadelphia, Pennsylvania, United States
RECRUITINGColumbia Neurological Scale
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).
Time frame: 2 years
PEDI-CAT assessment
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.
Time frame: 2 years
International Pediatric Mitochondrial Disease Scale
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.
Time frame: 2 years
Scale for Assessment and Rating of Ataxia
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.
Time frame: 2 years
Balance test
Standing balance test. May assessed with an accelerometer. Measured as time in seconds.
This platform is for informational purposes only and does not constitute medical advice. Always consult a qualified healthcare professional.
Time frame: 2 years
Coordination test
9-hold peg test. Measured as time in seconds.
Time frame: 2 years
2 or 6 minute walk test
2-minute walk test (2MWT) ages 3-6 yrs. or 6MWT (ages 6+). Measured as distance in meters.
Time frame: 2 years
Strength test
Hand grip with Dynamometer. Measured as average value of lbs of grip strength.
Time frame: 2 years
Hearing testing
Assessing hearing frequency in both ears.
Time frame: 2 years
EKG rhythm
Time frame: 2 years
EKG PR interval
Time frame: 2 years
EKG QRS interval
Time frame: 2 years
Echo
Assessing valve abnormalities
Time frame: 2 years
BNP
Measured as pg/ml
Time frame: 2 years
Lipid panel
Total cholesterol, HDL-C, LDL-C, triglycerides. Measured as mg/dL.
Time frame: 2 years
Cortisol
Measured mcg/dL
Time frame: 2 years
PTH
Measured as pg/mL
Time frame: 2 years
Calcium
Measured as pg/mL
Time frame: 2 years
Vitamin D
Measured ng/mL
Time frame: 2 years
Growth hormone
Measured ng/mL
Time frame: 2 years
IGF1
Measured ng/mL
Time frame: 2 years
TSH
Measured uIUg/mL
Time frame: 2 years
FT4 and T3
Measured ng/dL
Time frame: 2 years
HbA1c
Measured as a percentage
Time frame: 2 years
C-peptide
Measured ng/mL
Time frame: 2 years
Fasting Plasma Glucose (FPG)
Measured mg/dL
Time frame: 2 years
Fructosamine
Measured mcmol/L
Time frame: 2 years
Amylase
Measured U/L
Time frame: 2 years
Comprehensive Metabolic Panel
Electrolytes, transaminases, TP/Albumin, bilirubin, alk phos, creatinine, BUN, GFR. Measured mmol/L.
Time frame: 2 years
Lipase
Measured U/L
Time frame: 2 years
PT/PTT
Measured in seconds
Time frame: 2 years
Stool elastase
ug Elastase/g stool
Time frame: 2 years
Height
Assessed in cm
Time frame: 2 years
Weight
Assessed in kg
Time frame: 2 years
Orbitofrontal cortex (OFC)
Assessed in cm
Time frame: 2 years
Complete blood count with differential
Time frame: 2 years
Ferritin
Measured in ng/mL
Time frame: 2 years
Iron
Measured ug/dL
Time frame: 2 years
Reticulocytes
Count (x10\^9/uL)
Time frame: 2 years
Reticulocytes
Percentage
Time frame: 2 years
Number of transfusions
Frequency count of number of red blood transfusions and platelet transfusions
Time frame: 2 years
Acylcarnitines (plasma)
Measured as mcmol/L
Time frame: 2 years
Amino acids (plasma and urine)
Interpretation recorded.
Time frame: 2 years
Organic acids (urine)
Interpretation recorded.
Time frame: 2 years
Lactate
measured mmol/L
Time frame: 2 years
Glutathione
Measured uM
Time frame: 2 years
GDF15
pg/mL
Time frame: 2 years
Visual exam
Assessing palpebral fissure in mm; distance in mm; eye movement in mm
Time frame: 2 years
ERG/OCT
Assessed as normal or abnormal
Time frame: 2 years
Ptosis/ophthalmoplegia
Assessed in mm
Time frame: 2 years
Cystatin C
Measured mg/dL
Time frame: 2 years
Magnesium
Measured mg/dL
Time frame: 2 years
Phosphate
Measured mg/dL
Time frame: 2 years
Urine Electrolytes
Measured mg/dL
Time frame: 2 years
Urine protein
Measured mg/dL
Time frame: 2 years
Urine amino acids
Time frame: 2 years
Facial dysmorphology assessment
Assessed with facial photography. Assessing ptosis and/or prominent cheeks/jowls.
Time frame: 2 years