Clinical Trial: Natural History of Pearson Syndrome

Study Status: Enrolling by invitation
Recruit Status: Enrolling by invitation
Study Type: Observational [Patient Registry]

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 Summary:

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.

Sponsor: The Cleveland Clinic

Current Primary Outcome: Track patients with Pearson Syndrome longitudinally [ Time Frame: 3 years ]

Original Primary Outcome: Same as current

Current Secondary Outcome: Determine genetic and clinical predictors of Pearson Syndrome course [ Time Frame: 3 years ]

Original Secondary Outcome: Same as current

Information By: The Cleveland Clinic

Dates:
Date Received: December 22, 2014
Date Started: March 2014
Date Completion: September 2017
Last Updated: February 10, 2017
Last Verified: February 2017