- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT02327364
Natural History of Pearson Syndrome
Rare Disease Clinical Research Network Natural History of Pearson Syndrome North American Mitochondrial Disease Consortium (NAMDC)
Study Overview
Status
Conditions
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.
Study Type
Enrollment (Actual)
Participation Criteria
Eligibility Criteria
Ages Eligible for Study
- Child
- Adult
- Older Adult
Accepts Healthy Volunteers
Genders Eligible for Study
Sampling Method
Study Population
Description
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
Study Plan
How is the study designed?
Design Details
- Observational Models: Cohort
- Time Perspectives: Prospective
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Time Frame |
---|---|
Track patients with Pearson Syndrome longitudinally
Time Frame: 3 years
|
3 years
|
Secondary Outcome Measures
Outcome Measure |
Time Frame |
---|---|
Determine genetic and clinical predictors of Pearson Syndrome course
Time Frame: 3 years
|
3 years
|
Collaborators and Investigators
Sponsor
Collaborators
Study record dates
Study Major Dates
Study Start
Primary Completion (Actual)
Study Completion (Actual)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Estimate)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Additional Relevant MeSH Terms
Other Study ID Numbers
- NAMDC7408
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
Clinical Trials on Pearson Syndrome
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The Champ FoundationChildren's Hospital of Philadelphia; The Cleveland ClinicRecruitingPearson Syndrome | Single Large Scale Mitochondrial DNA Deletion Syndromes (SLSMDS)United States
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Edison Pharmaceuticals IncTerminated
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Minovia Therapeutics Ltd.RecruitingMitochondrial Diseases | Pearson SyndromeIsrael
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Minovia Therapeutics Ltd.CompletedMitochondrial Diseases | Pearson SyndromeIsrael
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University Hospital FreiburgCompletedMyelodysplastic Syndromes | Fanconi Anemia | Dyskeratosis Congenita | Pearson Marrow-pancreas Syndrome | Shwachman-diamond SyndromeSpain, Germany, Switzerland, Austria, Netherlands, Italy, Czech Republic, Belgium, Denmark, Ireland
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LMU KlinikumUniversity of Pisa; German Federal Ministry of Education and Research; European...RecruitingMitochondrial Diseases | MDS | Mitochondrial Myopathies | MELAS Syndrome | MIDD | Kearns-Sayre Syndrome | MERRF Syndrome | Barth Syndrome | Leigh Syndrome | MNGIE | LHON | Pearson Syndrome | NARP Syndrome | Coenzyme Q10 Deficiency | SANDO | SCAE | MIRAS | CPEOAustria, Germany, Italy
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Neumedicines Inc.Department of Health and Human ServicesCompletedHematopoietic Syndrome Due to Acute Radiation SyndromeUnited States
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Ministry of Public Health, Democratic Republic...National Institutes of Health (NIH); Oregon Health and Science University; National... and other collaboratorsCompletedNeurotoxicity Syndrome, Cassava | Neurotoxicity Syndrome, Cyanate | Neurotoxicity Syndrome, Cyanide | Neurotoxicity Syndrome, ThiocyanateCongo, The Democratic Republic of the
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Mahidol UniversityCompletedSubacromial Impingement Syndrome | Shoulder Impingement Syndrome | Subacromial Pain Syndrome | Subacromial Impingement | Impingement Syndrome, ShoulderIndonesia
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Cliniques universitaires Saint-Luc- Université...TerminatedMultiple Organ Dysfunction Syndrome | SEPTIC SHOCK | SEPSIS SYNDROMEBelgium