Natural History of Pearson Syndrome

October 31, 2025 updated by: Sumit Parikh

Rare Disease Clinical Research Network Natural History of Pearson Syndrome North American Mitochondrial Disease Consortium (NAMDC)

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.

Study Overview

Status

Completed

Conditions

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 Type

Observational

Enrollment (Actual)

11

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.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

Patients with confirmed Pearson Syndrome

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
Track patients with Pearson Syndrome longitudinally
Time Frame: 3 years
3 years

Secondary Outcome Measures

Outcome Measure
Time Frame
Determine genetic and clinical predictors of Pearson Syndrome course
Time Frame: 3 years
3 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Sumit Parikh

Collaborators

National Institutes of Health (NIH)

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 Major Dates

Study Start

March 1, 2014

Primary Completion (Actual)

August 1, 2020

Study Completion (Actual)

August 1, 2020

Study Registration Dates

First Submitted

December 22, 2014

First Submitted That Met QC Criteria

December 24, 2014

First Posted (Estimated)

December 30, 2014

Study Record Updates

Last Update Posted (Estimated)

November 3, 2025

Last Update Submitted That Met QC Criteria

October 31, 2025

Last Verified

August 1, 2020

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • NAMDC7408

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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