Natural History of Pearson Syndrome

Pearson Syndrome Clinical Trial

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02327364
• Other study ID #: NAMDC7408
• Status: Completed
• Start date: March 2014
• Est. completion date: August 2020

Study information

• Verified date: August 2020
• Source: The Cleveland Clinic
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 11
• Est. completion date: August 2020
• Est. primary completion date: August 2020
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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

Related Conditions & MeSH terms

• Lipid Metabolism, Inborn Errors
• Mitochondrial Diseases
• Muscular Diseases
• Pearson Syndrome
• Syndrome

Locations

Country	Name	City	State
n/a

Sponsors (2)

Lead Sponsor	Collaborator
The Cleveland Clinic	National Institutes of Health (NIH)

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Track patients with Pearson Syndrome longitudinally		3 years
Secondary	Determine genetic and clinical predictors of Pearson Syndrome course		3 years