Friday, June 16th- Afternoon Session

Clinical and Genetic Characteristics of Barth Syndrome

1:00-1:10 Welcome- Ricard I. Kelley, M.D., Ph.D., Kennedy Krieger Institute.

1:10-2:00 Peter G. Barth, M.D.- University of Amsterdam, Amsterdam, The Netherlands

"X-linked cardiomyopathy and neutropenia- an historic and clinical overview of Barth syndrome"

2:00-2:45 Richard I. Kelley, M.D., Ph.D., Kennedy Krieger Institute.

"Barth syndrome, the American experience"

2:45-3:30 Gerard Berry, M.D.- Children's Hospital of Philadelphia, Philadelphia, PA

"Treatment of Barth syndrome with growth hormone."

3:30-4:00 Coffee Break

4:00-4:30 Gerald Cox, M.D., Ph.D, The Children's Hospital, Boston, MA

"Neutropenia in Barth syndrome: treatment with G-CSF"

4:30-5:00 Iris Gonzalez- duPont Children's Hospital, Wilmington, DE

"The spectrum of G4.5 mutations in Barth syndrome"

5:00-5:15 Ricard I. Kelley, M.D., Ph.D., Kennedy Krieger Institute.

"Cardiomyopathy-Parkinsonism syndrome: an autosomal recessive Barth-like disorder"

5:15-5:30 Troy Phipps, Doctoral Candidate, California State University, Northridge.

"Subcellular Localization of the Barth Proteins"

5:30-6:00 Discussion

Dinner for scientists and clinicians- Fairmount Building- 6:00-7:30

Friday, June 16th, Evening Session

Biochemistry of Barth Syndrome and Future Research Goals

7:30-8:00 Ricard I. Kelley, M.D., Ph.D., Kennedy Krieger Institute.

"Organic acid metabolism in Barth syndrome"

8:00-8:45 Peter Vreken, Ph.D. - University of Amsterdam, Amsterdam, The Netherlands

"Phospholipid abnormalities in Barth syndrome"

8:45-9:30 Discussion Topics:

A: Future clinical and laboratory research goals

B: treatment of Barth Syndrome

C: Planning for Saturday sessions with families

All Friday scientific sessions will take place in the third floor conference room of the Kennedy Krieger Institute's Fairmount Building, 1750 East Fairmount Ave, Baltimore. Parking is available in the Fairmount Building parking lot- entrance from Fairmount Street.

Saturday, June 17th- Morning Session

Brunch with Barth Syndrome Families- Fairmount Cafeteria- 8:30-10:00 AM

Joint Meeting with Barth Syndrome Families- 10:00-1:00 PM

10:00-10:10 Welcome- Ricard I. Kelley, M.D., Ph.D., Kennedy Krieger Institute.

10:10-10:45 Peter G. Barth, M.D.- University of Amsterdam, Amsterdam, The Netherlands

"Overview of Barth Syndrome"

10:45-11:15 Iris Gonzalez- duPont Children's Hospital, Wilmington, DE

"Genetics of Barth syndrome"

11:15-11:30 Gerald Cox, M.D., Ph.D, The Children's Hospital, Boston, MA

"Neutropenia in Barth syndrome and its treatment with G-CSF"

11:30-12:00 Ricard I. Kelley, M.D., Ph.D., Kennedy Krieger Institute.

"Growth and nutrition in Barth syndrome"

12:00-1:00 Open question and answer period with scientists and clinicians

Saturday, June 17th- Afternoon Session- 1:00-5:00 PM

Clinic sessions (30 minutes) with physicians- Fairmount Building

Interested parents and their children should sign-up on Friday to see one of the following physicians:

Peter G. Barth, M.D.-General Issues

David Brook, M.D.- Hematology

Gerald Cox, M.D.- General Issues

Richard I. Kelley, M.D., Ph.D.- General Issues

A sign-up form will be available during the family meeting on Friday. Depending on the final attendance and availability of other physicians, some families may be able to schedule sessions with more than one physician. Rooms will be assigned on the day of the conference. It would be advisable to bring complete or at least the most pertinent medical records to the clinic sessions.