Natural History of Pearson Syndrome

NCT02327364 | Completed

• 1 other identifier: NAMDC7408
• Study Type: observational
• Target: 11
• Locations: 0 countries
• Sites: N/A

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.

Conditions

Pearson Syndrome

Outcome Measures

Primary Outcomes (1)

• Track patients with Pearson Syndrome longitudinally

  3 years

Secondary Outcomes (1)

• Determine genetic and clinical predictors of Pearson Syndrome course

  3 years

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients with confirmed Pearson Syndrome

You may qualify if:

• 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

You may not qualify if:

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

Sponsors & Collaborators

• Sumit Parikh: lead
• National Institutes of Health (NIH): collaborator

Biospecimen

Retention: SAMPLES WITH DNA

Blood samples will be obtained for analyses of mtDNA deletions and hematologic parameters

MeSH Terms

Conditions

VLCAD deficiency

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 3 Years
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Associate Professor of Neurology

Study Record Dates

• First Submitted: December 22, 2014
• First Posted: December 30, 2014
• Study Start: March 1, 2014
• Primary Completion: August 1, 2020
• Study Completion: August 1, 2020
• Last Updated: November 3, 2025

Record last verified: 2020-08