CompletedNot Applicable

Natural History of Pearson Syndrome

11 participantsStarted 2014-03

Plain-language 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.

Who can participate

SexALL

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Inclusion criteria

✓. 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.
✓. All patients must agree to participate in the NAMDC Clinical Registry

Exclusion criteria

✕. Patient does not fulfill criteria for Pearson Syndrome
✕. Not willing to participate in the NAMDC clinical Registry

What they're measuring

Track patients with Pearson Syndrome longitudinally

Timeframe: 3 years

Trial details

NCT IDNCT02327364

SponsorSumit Parikh

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2020-08

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