Retrospective Analysis of Natural History of Patients with Pearson Syndrome
Recruiting
- Conditions
- G31.81
- Registration Number
- DRKS00021754
- Lead Sponsor
- niversitätsklinikum Freiburg, Zentrum für Kinder- und Jugendmedizin, Klinik IV, Pädiatrische Hämatologie/Onkologie
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Recruiting
- Sex
- All
- Target Recruitment
- 25
Inclusion Criteria
1. Individuals of any age with a confirmed diagnosis of Pearson syndrome are included. Pearson syndrome required the presence of anaemia at diagnosis and typical bone marrow finding with vacuolization of marrow precursors and/or ring sideroblasts.
2. Genetic confirmation of the diagnosis by detection of a large scale mtDNA deletion is necessary.
Exclusion Criteria
1. Absence of a genetic report indicating a large scale mtDNA deletion
2. No informed consent from parents
Study & Design
- Study Type
- observational
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method • To analyze hematological values and bone marrow findings at diagnosis in patients with Pearson syndrome.<br>• To demonstrate the natural history of patients
- Secondary Outcome Measures
Name Time Method • To determine incidences and time-points of appearances of varied non-hematological complications <br>• To analyze the incidence and the time-point of hematological recovery<br>• To determine genetic and clinical predictors of the clinical course of Pearson Syndrome