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Natural History of Pearson Syndrome

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ClinicalTrials.gov Identifier: NCT02327364
Recruitment Status : Enrolling by invitation
First Posted : December 30, 2014
Last Update Posted : February 4, 2019
Sponsor:
Collaborator:
National Institutes of Health (NIH)
Information provided by (Responsible Party):
Sumit Parikh, The Cleveland Clinic

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.

Condition or disease
Pearson Syndrome

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.


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Study Type : Observational [Patient Registry]
Estimated Enrollment : 25 participants
Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration: 3 Years
Official Title: Rare Disease Clinical Research Network Natural History of Pearson Syndrome North American Mitochondrial Disease Consortium (NAMDC)
Study Start Date : March 2014
Estimated Primary Completion Date : September 2020
Estimated Study Completion Date : September 2020





Primary Outcome Measures :
  1. Track patients with Pearson Syndrome longitudinally [ Time Frame: 3 years ]

Secondary Outcome Measures :
  1. Determine genetic and clinical predictors of Pearson Syndrome course [ Time Frame: 3 years ]

Biospecimen Retention:   Samples With DNA
Blood samples will be obtained for analyses of mtDNA deletions and hematologic parameters


Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients with confirmed Pearson Syndrome
Criteria

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

Additional Information:

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Responsible Party: Sumit Parikh, Associate Professor of Neurology, The Cleveland Clinic
ClinicalTrials.gov Identifier: NCT02327364     History of Changes
Other Study ID Numbers: NAMDC7408
First Posted: December 30, 2014    Key Record Dates
Last Update Posted: February 4, 2019
Last Verified: February 2019
Additional relevant MeSH terms:
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Muscular Diseases
Lipid Metabolism, Inborn Errors
Mitochondrial Diseases
Syndrome
Disease
Pathologic Processes
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Lipid Metabolism Disorders
Metabolic Diseases
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases