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Barth Syndrome Registry July 29, 2010

Barth Syndrome Registry July 29, 2010. Carolyn Spencer, MD and Amy E. Roberts, MD Children’s Hospital Boston. Barth Syndrome Registry. 65 subjects- infancy to 28 years of age 8 countries Self reported data Medical data- abstracted from medical records DNA – 50 subjects (Roberts lab)

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Barth Syndrome Registry July 29, 2010

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  1. Barth Syndrome Registry July 29, 2010 Carolyn Spencer, MD and Amy E. Roberts, MDChildren’s Hospital Boston

  2. Barth Syndrome Registry • 65 subjects- infancy to 28 years of age • 8 countries • Self reported data • Medical data- abstracted from medical records • DNA – 50 subjects (Roberts lab) • Lymphoblasts – 41 subjects (Johns Hopkins Univ.) • Fibroblasts (from non-cardiac surgeries) - 3 subjects (Bill Pu) • Myocardium/autopsy – 3 subjects (Amy Roberts)

  3. Distribution of Registry Subjects, United States WA ME MT ND VT OR MN NH WI ID NY MA SD WY RI MI CT NJ PA IA NE NV OH MD IN DE IL UT CO WV KS VA CA MO KY NC TN OK AZ AR SC NM GA AL MS LA TX AK FL HI PR • 29 From Outside US • Australia • Canada • France • Germany • South Africa • United Kingdom (13)

  4. Web based data entry • Total number of subjects: 65 • Total number of echos: 353 (50 subjects) • Total number of cbc's: 239 (48 subjects) • 28 measured while on GCSF • 126 not on GCSF • 85 GCSF status unknown • Total number of growth entries: 467 (58 subjects)

  5. Web based data entry • https://www.peds.ufl.edu/barthsyndromeregistry/data/

  6. Cardiomyopathy • 7 Subjects have had heart transplant • Of 50 subjects with echos: • 30 subjects with mention of LVNC or hypertrabeculation on at least one echo • 65 subjects: 57 with self reported data • Of 57 subjects: • 54 report + history of cardiomyopathy • 3 report no cardiomyopathy

  7. Total number of cbc's: 239 (48 subjects) • 28 on GCSF • 126 not on GCSF • 85 GCSF status unknown

  8. FEEDING ISSUES Of 58 completed questionnaires 26 subjects (45%) had/have an NG or G Tube

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