Recruiting

Observational Study

Sponsor:

The Champ Foundation

Code:

NCT05029843

Conditions

Pearson Syndrome

Single Large Scale Mitochondrial DNA Deletion Syndromes (SLSMDS)

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Study Details

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)

Study ID

NCT05029843

Start date

Mar 16, 2021

Status verified date

Feb, 2023

Completion date

Oct 16, 2024

Anticipated

Primary completion date

Oct 16, 2024

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

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.

Study Design

Enrollment

30 participants

Anticipated

Interventions and Outcome Measures

Primary outcome measure

  • Columbia Neurological Scale [ Time Frame: 2 years ]
  • PEDI-CAT assessment [ Time Frame: 2 years ]
  • International Pediatric Mitochondrial Disease Scale [ Time Frame: 2 years ]
  • Scale for Assessment and Rating of Ataxia [ Time Frame: 2 years ]
  • Balance test [ Time Frame: 2 years ]
  • Coordination test [ Time Frame: 2 years ]
  • 2 or 6 minute walk test [ Time Frame: 2 years ]
  • Strength test [ Time Frame: 2 years ]
  • Hearing testing [ 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 [ Time Frame: 2 years ]
  • BNP [ Time Frame: 2 years ]
  • Lipid panel [ Time Frame: 2 years ]
  • Cortisol [ Time Frame: 2 years ]
  • PTH [ Time Frame: 2 years ]
  • Calcium [ Time Frame: 2 years ]
  • Vitamin D [ Time Frame: 2 years ]
  • Growth hormone [ Time Frame: 2 years ]
  • IGF1 [ Time Frame: 2 years ]
  • TSH [ Time Frame: 2 years ]
  • FT4 and T3 [ Time Frame: 2 years ]
  • HbA1c [ Time Frame: 2 years ]
  • C-peptide [ Time Frame: 2 years ]
  • Fasting Plasma Glucose (FPG) [ Time Frame: 2 years ]
  • Fructosamine [ Time Frame: 2 years ]
  • Amylase [ Time Frame: 2 years ]
  • Comprehensive Metabolic Panel [ Time Frame: 2 years ]
  • Lipase [ Time Frame: 2 years ]
  • PT/PTT [ Time Frame: 2 years ]
  • Stool elastase [ Time Frame: 2 years ]
  • Height [ Time Frame: 2 years ]
  • Weight [ Time Frame: 2 years ]
  • Orbitofrontal cortex (OFC) [ Time Frame: 2 years ]
  • Complete blood count with differential [ Time Frame: 2 years ]
  • Ferritin [ Time Frame: 2 years ]
  • Iron [ Time Frame: 2 years ]
  • Reticulocytes [ Time Frame: 2 years ]
  • Reticulocytes [ Time Frame: 2 years ]
  • Number of transfusions [ Time Frame: 2 years ]
  • Acylcarnitines (plasma) [ Time Frame: 2 years ]
  • Amino acids (plasma and urine) [ Time Frame: 2 years ]
  • Organic acids (urine) [ Time Frame: 2 years ]
  • Lactate [ Time Frame: 2 years ]
  • Glutathione [ Time Frame: 2 years ]
  • GDF15 [ Time Frame: 2 years ]
  • Visual exam [ Time Frame: 2 years ]
  • ERG/OCT [ Time Frame: 2 years ]
  • Ptosis/ophthalmoplegia [ Time Frame: 2 years ]
  • Cystatin C [ Time Frame: 2 years ]
  • Magnesium [ Time Frame: 2 years ]
  • Phosphate [ Time Frame: 2 years ]
  • Urine Electrolytes [ Time Frame: 2 years ]
  • Urine protein [ Time Frame: 2 years ]
  • Urine amino acids [ Time Frame: 2 years ]
  • Facial dysmorphology assessment [ Time Frame: 2 years ]

Central Contacts and Locations

Central contacts

Elizabeth Reynolds, PhD

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

Locations

Cleveland Clinic

Recruiting

Cleveland, Ohio, United States, 44103

Children's Hospital of Philadelphia

Recruiting

Philadelphia, Pennsylvania, United States, 19104

More Information

Sponsor

The Champ Foundation

Last update posted

Feb 8, 2023

Last verified

Feb, 2023

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-08. This information was provided to ClinicalTrials.gov by The Champ Foundation on 2023-02-08.