Clinical trial NCT05029843: SLSMDS Natural History Study
Official title: Single Large-scale mtDNA Deletion Syndrome Natural History Study
Study type: OBSERVATIONAL
Overall status: UNKNOWN
Conditions: Pearson Syndrome
Single Large Scale Mitochondrial DNA Deletion Syndromes (SLSMDS)
Lead sponsor: The Champ Foundation
Sponsor class: OTHER
Collaborators: name: Children's Hospital of Philadelphia
name: The Cleveland Clinic
First posted: 2021-09-01
Enrollment: 30
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: CROSS_SECTIONAL
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.

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.

Eligibility criteria: 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.

Primary outcomes:
measure: Columbia Neurological Scale
timeFrame: 2 years
measure: PEDI-CAT assessment
timeFrame: 2 years
measure: International Pediatric Mitochondrial Disease Scale
timeFrame: 2 years
measure: Scale for Assessment and Rating of Ataxia
timeFrame: 2 years
measure: Balance test
timeFrame: 2 years
measure: Coordination test
timeFrame: 2 years
measure: 2 or 6 minute walk test
timeFrame: 2 years
measure: Strength test
timeFrame: 2 years
measure: Hearing testing
timeFrame: 2 years
measure: EKG rhythm
timeFrame: 2 years
measure: EKG PR interval
timeFrame: 2 years
measure: EKG QRS interval
timeFrame: 2 years
measure: Echo
timeFrame: 2 years
measure: BNP
timeFrame: 2 years
measure: Lipid panel
timeFrame: 2 years
measure: Cortisol
timeFrame: 2 years
measure: PTH
timeFrame: 2 years
measure: Calcium
timeFrame: 2 years
measure: Vitamin D
timeFrame: 2 years
measure: Growth hormone
timeFrame: 2 years
measure: IGF1
timeFrame: 2 years
measure: TSH
timeFrame: 2 years
measure: FT4 and T3
timeFrame: 2 years
measure: HbA1c
timeFrame: 2 years
measure: C-peptide
timeFrame: 2 years
measure: Fasting Plasma Glucose (FPG)
timeFrame: 2 years
measure: Fructosamine
timeFrame: 2 years
measure: Amylase
timeFrame: 2 years
measure: Comprehensive Metabolic Panel
timeFrame: 2 years
measure: Lipase
timeFrame: 2 years
measure: PT/PTT
timeFrame: 2 years
measure: Stool elastase
timeFrame: 2 years
measure: Height
timeFrame: 2 years
measure: Weight
timeFrame: 2 years
measure: Orbitofrontal cortex (OFC)
timeFrame: 2 years
measure: Complete blood count with differential
timeFrame: 2 years
measure: Ferritin
timeFrame: 2 years
measure: Iron
timeFrame: 2 years
measure: Reticulocytes
timeFrame: 2 years
measure: Reticulocytes
timeFrame: 2 years
measure: Number of transfusions
timeFrame: 2 years
measure: Acylcarnitines (plasma)
timeFrame: 2 years
measure: Amino acids (plasma and urine)
timeFrame: 2 years
measure: Organic acids (urine)
timeFrame: 2 years
measure: Lactate
timeFrame: 2 years
measure: Glutathione
timeFrame: 2 years
measure: GDF15
timeFrame: 2 years
measure: Visual exam
timeFrame: 2 years
measure: ERG/OCT
timeFrame: 2 years
measure: Ptosis/ophthalmoplegia
timeFrame: 2 years
measure: Cystatin C
timeFrame: 2 years
measure: Magnesium
timeFrame: 2 years
measure: Phosphate
timeFrame: 2 years
measure: Urine Electrolytes
timeFrame: 2 years
measure: Urine protein
timeFrame: 2 years
measure: Urine amino acids
timeFrame: 2 years
measure: Facial dysmorphology assessment
timeFrame: 2 years
Secondary outcomes:
Other outcomes:
Locations:
city: Cleveland
country: United States
facility: Cleveland Clinic
state: Ohio
city: Philadelphia
country: United States
facility: Children's Hospital of Philadelphia
state: Pennsylvania
Study officials:
affiliation: The Cleveland Clinic
name: Sumit Parikh, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: Children's Hospital of Philadelphia
name: Marni Falk, MD
role: PRINCIPAL_INVESTIGATOR
References: