SLSMDS Natural History Study

Pearson Syndrome Clinical Trial

Official title:

Single Large-scale mtDNA Deletion Syndrome Natural History Study

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT05029843
• Other study ID #: CFR-02
• Status: Recruiting
• Start date: March 16, 2021
• Est. completion date: October 16, 2024

Study information

• Verified date: February 2023
• Source: The Champ Foundation
• Contact: Elizabeth Reynolds, PhD
• Phone: 727-612-4606
• Email: elizabeth.reynolds[@]thechampfoundation.org
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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 information / eligibility

• Status: Recruiting
• Enrollment: 30
• Est. completion date: October 16, 2024
• Est. primary completion date: October 16, 2024
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

Inclusion Criteria:

• 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.

Related Conditions & MeSH terms

• Pearson Syndrome
• Syndrome

Locations

Country	Name	City	State
United States	Cleveland Clinic	Cleveland	Ohio
United States	Children's Hospital of Philadelphia	Philadelphia	Pennsylvania

Sponsors (3)

Lead Sponsor	Collaborator
The Champ Foundation	Children's Hospital of Philadelphia, The Cleveland Clinic

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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
Primary	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
Primary	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
Primary	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
Primary	Balance test	Standing balance test. May assessed with an accelerometer. Measured as time in seconds.	2 years
Primary	Coordination test	9-hold peg test. Measured as time in seconds.	2 years
Primary	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
Primary	Strength test	Hand grip with Dynamometer. Measured as average value of lbs of grip strength.	2 years
Primary	Hearing testing	Assessing hearing frequency in both ears.	2 years
Primary	EKG rhythm		2 years
Primary	EKG PR interval		2 years
Primary	EKG QRS interval		2 years
Primary	Echo	Assessing valve abnormalities	2 years
Primary	BNP	Measured as pg/ml	2 years
Primary	Lipid panel	Total cholesterol, HDL-C, LDL-C, triglycerides. Measured as mg/dL.	2 years
Primary	Cortisol	Measured mcg/dL	2 years
Primary	PTH	Measured as pg/mL	2 years
Primary	Calcium	Measured as pg/mL	2 years
Primary	Vitamin D	Measured ng/mL	2 years
Primary	Growth hormone	Measured ng/mL	2 years
Primary	IGF1	Measured ng/mL	2 years
Primary	TSH	Measured uIUg/mL	2 years
Primary	FT4 and T3	Measured ng/dL	2 years
Primary	HbA1c	Measured as a percentage	2 years
Primary	C-peptide	Measured ng/mL	2 years
Primary	Fasting Plasma Glucose (FPG)	Measured mg/dL	2 years
Primary	Fructosamine	Measured mcmol/L	2 years
Primary	Amylase	Measured U/L	2 years
Primary	Comprehensive Metabolic Panel	Electrolytes, transaminases, TP/Albumin, bilirubin, alk phos, creatinine, BUN, GFR. Measured mmol/L.	2 years
Primary	Lipase	Measured U/L	2 years
Primary	PT/PTT	Measured in seconds	2 years
Primary	Stool elastase	ug Elastase/g stool	2 years
Primary	Height	Assessed in cm	2 years
Primary	Weight	Assessed in kg	2 years
Primary	Orbitofrontal cortex (OFC)	Assessed in cm	2 years
Primary	Complete blood count with differential		2 years
Primary	Ferritin	Measured in ng/mL	2 years
Primary	Iron	Measured ug/dL	2 years
Primary	Reticulocytes	Count (x10^9/uL)	2 years
Primary	Reticulocytes	Percentage	2 years
Primary	Number of transfusions	Frequency count of number of red blood transfusions and platelet transfusions	2 years
Primary	Acylcarnitines (plasma)	Measured as mcmol/L	2 years
Primary	Amino acids (plasma and urine)	Interpretation recorded.	2 years
Primary	Organic acids (urine)	Interpretation recorded.	2 years
Primary	Lactate	measured mmol/L	2 years
Primary	Glutathione	Measured uM	2 years
Primary	GDF15	pg/mL	2 years
Primary	Visual exam	Assessing palpebral fissure in mm; distance in mm; eye movement in mm	2 years
Primary	ERG/OCT	Assessed as normal or abnormal	2 years
Primary	Ptosis/ophthalmoplegia	Assessed in mm	2 years
Primary	Cystatin C	Measured mg/dL	2 years
Primary	Magnesium	Measured mg/dL	2 years
Primary	Phosphate	Measured mg/dL	2 years
Primary	Urine Electrolytes	Measured mg/dL	2 years
Primary	Urine protein	Measured mg/dL	2 years
Primary	Urine amino acids		2 years
Primary	Facial dysmorphology assessment	Assessed with facial photography. Assessing ptosis and/or prominent cheeks/jowls.	2 years