RECRUITING

SLSMDS Natural History Study

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Conditions

Pearson SyndromeSingle Large Scale Mitochondrial DNA Deletion Syndromes (SLSMDS)

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Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

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.

Official Title

Single Large-scale mtDNA Deletion Syndrome Natural History Study

Quick Facts

Study Start:2021-03-16
Study Completion:2024-10-16
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT05029843

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:Not specified
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:No
Standard Ages:CHILD, ADULT, OLDER_ADULT
Inclusion CriteriaExclusion Criteria
  1. * Have an active account on the Champ Foundation Registry (CFR) or be willing to create an account on the CFR.
  2. * Must have a genetic diagnosis of a single large-scale mitochondrial DNA deletion and must upload their genetic report to the CFR.
  3. * 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.
  1. Pregnancy or breastfeeding
  2. Severe psychiatric disorders
  3. Active substance abuse
  4. Unstable medical conditions
  5. Inability to comply with study requirements

Contacts and Locations

Study Contact

Elizabeth Reynolds, PhD
CONTACT
727-612-4606
elizabeth.reynolds@thechampfoundation.org

Principal Investigator

Sumit Parikh, MD
PRINCIPAL_INVESTIGATOR
The Cleveland Clinic
Marni Falk, MD
PRINCIPAL_INVESTIGATOR
Children's Hospital of Philadelphia

Study Locations (Sites)

Cleveland Clinic
Cleveland, Ohio, 44103
United States
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, 19104
United States

Collaborators and Investigators

Sponsor: The Champ Foundation

  • Sumit Parikh, MD, PRINCIPAL_INVESTIGATOR, The Cleveland Clinic
  • Marni Falk, MD, PRINCIPAL_INVESTIGATOR, Children's Hospital of Philadelphia

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2021-03-16
Study Completion Date2024-10-16

Study Record Updates

Study Start Date2021-03-16
Study Completion Date2024-10-16

Terms related to this study

Additional Relevant MeSH Terms

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