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Natural History of Pearson Syndrome

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT02327364
Recruitment Status : Completed
First Posted : December 30, 2014
Last Update Posted : August 21, 2020
National Institutes of Health (NIH)
Information provided by (Responsible Party):
Sumit Parikh, The Cleveland Clinic

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.

Condition or disease
Pearson Syndrome

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.

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Study Type : Observational [Patient Registry]
Actual Enrollment : 11 participants
Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration: 3 Years
Official Title: Rare Disease Clinical Research Network Natural History of Pearson Syndrome North American Mitochondrial Disease Consortium (NAMDC)
Study Start Date : March 2014
Actual Primary Completion Date : August 2020
Actual Study Completion Date : August 2020

Primary Outcome Measures :
  1. Track patients with Pearson Syndrome longitudinally [ Time Frame: 3 years ]

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

Biospecimen Retention:   Samples With DNA
Blood samples will be obtained for analyses of mtDNA deletions and hematologic parameters

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients with confirmed Pearson Syndrome

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
Additional Information:

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Responsible Party: Sumit Parikh, Associate Professor of Neurology, The Cleveland Clinic Identifier: NCT02327364    
Other Study ID Numbers: NAMDC7408
First Posted: December 30, 2014    Key Record Dates
Last Update Posted: August 21, 2020
Last Verified: August 2020
Additional relevant MeSH terms:
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Muscular Diseases
Lipid Metabolism, Inborn Errors
Mitochondrial Diseases
Pathologic Processes
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Lipid Metabolism Disorders
Metabolic Diseases
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases