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Natural History of Pearson Syndrome

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Disease Information

Descriptive Information
Brief Title † Natural History of Pearson Syndrome
Official Title † Rare Disease Clinical Research Network Natural History of Pearson Syndrome North American Mitochondrial Disease Consortium (NAMDC)
Brief Summary The purpose of this 3-year, multi-site, non-randomized, prospective, observational study is to characterize the natural history of Pearson Syndrome. The Syndrome is a rare mitochondrial disorder due to a large-scale mtDNA deletion. Children typically present in their 1st two years of life (most in infancy) with anemia and/or pancreatitis. Most individuals with Pearson Syndrome die in childhood. Those who survive evolve to Kearns-Sayre Syndrome/Chronic Progressive External Ophthalmoplegia (KSS/CPEO) although accurate survival estimates are not yet known.
Detailed Description All patients with confirmed Pearson Syndrome who satisfy the inclusion/exclusion criteria will be offered enrollment into this study. Patients followed at participating NAMDC clinical sites will be enrolled at those sites. Patients who are not followed at participating NAMDC clinical sites and wish to participate may contact one of the member sites directly or their local doctor may direct them to one of the member sites. Both male and female patients from all racial and ethnic backgrounds who satisfy the inclusion and exclusion criteria will be encouraged to participate. Children and adults will be eligible to be enrolled, but we expect the patient population to be mostly children. Each patient with Pearson Syndrome who enrolls in the NAMDC Clinical Registry will be encouraged to participate in this study. Each patient enrolling in this study will be required to enroll in the NAMDC Clinical Registry either prior to or upon enrolling in this study. Demographic, medical history, biochemical, histological, genetic, and other clinical data from the registry will be incorporated into this study. Every effort will be made to minimize the inconvenience to patients of participating in this study. The study—related activities at each patient visit will be kept to a maximum of one hour, and will, whenever possible, be scheduled to coincide with the patient's regular follow-up with his or her treating physician. This study is observational and has no associated medical procedures.
Study Phase N/A
Study Type † Observational [Patient Registry]
Study Design †
Primary Outcome Measure † Track patients with Pearson Syndrome longitudinally
Secondary Outcome Measure † Determine genetic and clinical predictors of Pearson Syndrome course
Condition † Pearson Syndrome
Intervention †
Study Arms / Comparison Groups
Publications *

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information
Recruitment Status †
Estimated Enrollment † 25
Start Date † March 2014
Completion Date September 2017
Primary Completion Date September 2017
Eligibility Criteria † Inclusion Criteria: 1. All individuals of any age with confirmed Pearson Syndrome are eligible to participate. Pearson Syndrome requires the presence of a large-scale mtDNA deletion along with sideroblastic anemia with or without pancreatic insufficiency. 2. All patients must agree to participate in the NAMDC Clinical Registry Exclusion Criteria: 1. Patient does not fulfill criteria for Pearson Syndrome 2. Not willing to participate in the NAMDC clinical Registry
Gender All
Ages N/A - N/A
Accepts Healthy Volunteers No
Contacts ††
Location Countries †
Administrative Information
NCT ID † NCT02327364
Organization ID NAMDC7408
Secondary IDs ††
Responsible Party Principal Investigator
Study Sponsor † The Cleveland Clinic
Collaborators †† National Institutes of Health (NIH)
Investigators † : ,
Information Provided By
Verification Date February 2017
First Received Date † December 22, 2014
Last Updated Date February 10, 2017
† Required WHO trial registration data element.
†† WHO trial registration data element that is required only if it exists.
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