SLSMDS Natural History Study

NCT05029843 | Unknown

• 1 other identifier: CFR-02
• Study Type: observational
• Target: 30
• Locations: 1 country
• Sites: 2

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.

Conditions

Pearson Syndrome; Single Large Scale Mitochondrial DNA Deletion Syndromes (SLSMDS)

Outcome Measures

Primary Outcomes (57)

• Columbia 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).

  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.

  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.

  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.

  2 years

• Balance test

  Standing balance test. May assessed with an accelerometer. Measured as time in seconds.

  2 years

• Coordination test

  9-hold peg test. Measured as time in seconds.

  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.

  2 years

• Strength test

  Hand grip with Dynamometer. Measured as average value of lbs of grip strength.

  2 years

• Hearing testing

  Assessing hearing frequency in both ears.

  2 years

• EKG rhythm

  2 years

• EKG PR interval

  2 years

• EKG QRS interval

  2 years

• Echo

  Assessing valve abnormalities

  2 years

• BNP

  Measured as pg/ml

  2 years

• Lipid panel

  Total cholesterol, HDL-C, LDL-C, triglycerides. Measured as mg/dL.

  2 years

• Cortisol

  Measured mcg/dL

  2 years

• PTH

  Measured as pg/mL

  2 years

• Calcium

  Measured as pg/mL

  2 years

• Vitamin D

  Measured ng/mL

  2 years

• Growth hormone

  Measured ng/mL

  2 years

• IGF1

  Measured ng/mL

  2 years

• TSH

  Measured uIUg/mL

  2 years

• FT4 and T3

  Measured ng/dL

  2 years

• HbA1c

  Measured as a percentage

  2 years

• C-peptide

  Measured ng/mL

  2 years

• Fasting Plasma Glucose (FPG)

  Measured mg/dL

  2 years

• Fructosamine

  Measured mcmol/L

  2 years

• Amylase

  Measured U/L

  2 years

• Comprehensive Metabolic Panel

  Electrolytes, transaminases, TP/Albumin, bilirubin, alk phos, creatinine, BUN, GFR. Measured mmol/L.

  2 years

• Lipase

  Measured U/L

  2 years

• PT/PTT

  Measured in seconds

  2 years

• Stool elastase

  ug Elastase/g stool

  2 years

• Height

  Assessed in cm

  2 years

• Weight

  Assessed in kg

  2 years

• Orbitofrontal cortex (OFC)

  Assessed in cm

  2 years

• Complete blood count with differential

  2 years

• Ferritin

  Measured in ng/mL

  2 years

• Iron

  Measured ug/dL

  2 years

• Reticulocytes

  Count (x10\^9/uL)

  2 years

• Reticulocytes

  Percentage

  2 years

• Number of transfusions

  Frequency count of number of red blood transfusions and platelet transfusions

  2 years

• Acylcarnitines (plasma)

  Measured as mcmol/L

  2 years

• Amino acids (plasma and urine)

  Interpretation recorded.

  2 years

• Organic acids (urine)

  Interpretation recorded.

  2 years

• Lactate

  measured mmol/L

  2 years

• Glutathione

  Measured uM

  2 years

• GDF15

  pg/mL

  2 years

• Visual exam

  Assessing palpebral fissure in mm; distance in mm; eye movement in mm

  2 years

• ERG/OCT

  Assessed as normal or abnormal

  2 years

• Ptosis/ophthalmoplegia

  Assessed in mm

  2 years

• Cystatin C

  Measured mg/dL

  2 years

• Magnesium

  Measured mg/dL

  2 years

• Phosphate

  Measured mg/dL

  2 years

• Urine Electrolytes

  Measured mg/dL

  2 years

• Urine protein

  Measured mg/dL

  2 years

• Urine amino acids

  2 years

• Facial dysmorphology assessment

  Assessed with facial photography. Assessing ptosis and/or prominent cheeks/jowls.

  2 years

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

All patients with confirmed Pearson Syndrome who satisfy the inclusion/exclusion criteria will be offered enrollment into this study.

You may qualify if:

• 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.

Sponsors & Collaborators

• The Champ Foundation: lead
• Children's Hospital of Philadelphia: collaborator
• The Cleveland Clinic: collaborator

Study Sites (2)

Cleveland Clinic

Cleveland, Ohio, 44103, United States

RECRUITING

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, 19104, United States

RECRUITING

MeSH Terms

Conditions

VLCAD deficiency

Study Officials

• Sumit Parikh, MD

  The Cleveland Clinic

  PRINCIPAL INVESTIGATOR

• Marni Falk, MD

  Children's Hospital of Philadelphia

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Elizabeth Reynolds, PhD

CONTACT

727-612-4606; elizabeth.reynolds@thechampfoundation.org

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 11, 2021
• First Posted: September 1, 2021
• Study Start: March 16, 2021
• Primary Completion: October 16, 2024
• Study Completion: October 16, 2024
• Last Updated: February 8, 2023

Record last verified: 2023-02

Data Sharing

• IPD Sharing: Will not share

Locations

US (2)