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Natural History of Pearson Syndrome

NCT02327364 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 11

Last updated 2025-11-03

No results posted yet for this study

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.

Conditions

  • Pearson Syndrome

Sponsors & Collaborators

  • National Institutes of Health (NIH)

    collaborator NIH

  • Sumit Parikh

    lead OTHER

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2014-03-31
Primary Completion
2020-08-31
Completion
2020-08-31

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02327364 on ClinicalTrials.gov