Natural History of Pearson Syndrome
|The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.|
|ClinicalTrials.gov Identifier: NCT02327364|
Recruitment Status : Enrolling by invitation
First Posted : December 30, 2014
Last Update Posted : February 4, 2019
|Condition or disease|
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.
|Study Type :||Observational [Patient Registry]|
|Estimated Enrollment :||25 participants|
|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|
- Track patients with Pearson Syndrome longitudinally [ Time Frame: 3 years ]
- Determine genetic and clinical predictors of Pearson Syndrome course [ Time Frame: 3 years ]
Biospecimen Retention: Samples With DNA