SLSMDS Natural History Study
- Conditions
- Single Large Scale Mitochondrial DNA Deletion Syndromes (SLSMDS)Pearson Syndrome
- Registration Number
- NCT05029843
- Lead Sponsor
- The Champ Foundation
- Brief Summary
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.
- Detailed Description
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.
Recruitment & Eligibility
- Status
- RECRUITING
- Sex
- All
- Target Recruitment
- 30
- 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.
Not provided
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Columbia Neurological Scale 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 2 years Hand grip with Dynamometer. Measured as average value of lbs of grip strength.
Cortisol 2 years Measured mcg/dL
PTH 2 years Measured as pg/mL
Vitamin D 2 years Measured ng/mL
FT4 and T3 2 years Measured ng/dL
Fasting Plasma Glucose (FPG) 2 years Measured mg/dL
Height 2 years Assessed in cm
Orbitofrontal cortex (OFC) 2 years Assessed in cm
Iron 2 years Measured ug/dL
Number of transfusions 2 years Frequency count of number of red blood transfusions and platelet transfusions
Amino acids (plasma and urine) 2 years Interpretation recorded.
Ptosis/ophthalmoplegia 2 years Assessed in mm
PEDI-CAT assessment 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 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 2 years 9-hold peg test. Measured as time in seconds.
2 or 6 minute walk test 2 years 2-minute walk test (2MWT) ages 3-6 yrs. or 6MWT (ages 6+). Measured as distance in meters.
IGF1 2 years Measured ng/mL
Phosphate 2 years Measured mg/dL
Balance test 2 years Standing balance test. May assessed with an accelerometer. Measured as time in seconds.
Calcium 2 years Measured as pg/mL
Fructosamine 2 years Measured mcmol/L
Scale for Assessment and Rating of Ataxia 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.
Hearing testing 2 years Assessing hearing frequency in both ears.
EKG rhythm 2 years EKG QRS interval 2 years Lipid panel 2 years Total cholesterol, HDL-C, LDL-C, triglycerides. Measured as mg/dL.
TSH 2 years Measured uIUg/mL
PT/PTT 2 years Measured in seconds
C-peptide 2 years Measured ng/mL
Amylase 2 years Measured U/L
Reticulocytes 2 years Percentage
Echo 2 years Assessing valve abnormalities
BNP 2 years Measured as pg/ml
Growth hormone 2 years Measured ng/mL
HbA1c 2 years Measured as a percentage
Lactate 2 years measured mmol/L
Urine protein 2 years Measured mg/dL
Comprehensive Metabolic Panel 2 years Electrolytes, transaminases, TP/Albumin, bilirubin, alk phos, creatinine, BUN, GFR. Measured mmol/L.
Lipase 2 years Measured U/L
Stool elastase 2 years ug Elastase/g stool
Weight 2 years Assessed in kg
Complete blood count with differential 2 years Ferritin 2 years Measured in ng/mL
Glutathione 2 years Measured uM
GDF15 2 years pg/mL
ERG/OCT 2 years Assessed as normal or abnormal
Magnesium 2 years Measured mg/dL
Urine amino acids 2 years Acylcarnitines (plasma) 2 years Measured as mcmol/L
Organic acids (urine) 2 years Interpretation recorded.
Visual exam 2 years Assessing palpebral fissure in mm; distance in mm; eye movement in mm
Cystatin C 2 years Measured mg/dL
Urine Electrolytes 2 years Measured mg/dL
Facial dysmorphology assessment 2 years Assessed with facial photography. Assessing ptosis and/or prominent cheeks/jowls.
EKG PR interval 2 years
- Secondary Outcome Measures
Name Time Method
Trial Locations
- Locations (2)
Cleveland Clinic
🇺🇸Cleveland, Ohio, United States
Children's Hospital of Philadelphia
🇺🇸Philadelphia, Pennsylvania, United States