1. TM Centers for Disease Control and Prevention National Center on Birth Defects and Developmental Disabilities Centers for Disease Control and Prevention National Center on Birth Defects and Developmental Disabilities Rare Disease Registries CDC Update Vincent A. Campbell Division of Human Development and Disability June 29, 2007

2. TM Registries in NCBDDD Operational Registry - Hemophilia  Purpose – Surveillance of blood safety and joint disease  ~95 clinics using electronic medical record (EMR); ~40 are in process of installing  ~25,000 patients seen in these clinics (app. 70% of affected population); ~ 18,000 included in the EMR  Data maintained at CDC – CDC has access to surveillance data  Funding – HRSA, CDC

3. TM Registries in NCBDDD Registry Planning & Pilot – Spina Bifida  Purpose – Improving care; establishing a basis for research  ~ 150 clinics (?); loose affiliation with SBA  Affected population, ~70,000 – 130,000 (?)  Development being supervised by SBA Professional Advisory Council with involvement of CDC National Center for Public Health Informatics and NCBDDD/DHDD  Funding – HRSA, CDC

4. TM Registries in NCBDDD Early Planning – Duchenne Muscular Dystrophy  Purpose – Differs among stakeholders – Improving care, identifying candidates for clinical trials...  Surveillance data elements not identified  Potential data sources – clinics, other  2 projects planned ◊Link existing databases ◊Develop Single Gene Information System  Funding - ?

5. TM MD STARnet  5 Sites – AZ, CO, GA, IA, western NY  Cases abstracted-716 (data as of May 2007) ◊422 definite, 54 probable, 82 possible  2007-continue to abstract new cases and conduct CATI interview with parents  2006-”The Muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet): Surveillance Methodology published  Research Questions/Activities identified  4 poster presentations

6. TM MD STARnet Research Questions  Prevalence and trends (including demographics)  Distribution of genotypes and mutations  Health/other outcomes by genotypes/mutations  Diagnostic delay  Treatments and therapeutical interventions  Medical/non-medical complications  Clinical course/progression

7. TM Diagnostic Delay Presented at American Academy of Neurology-April 2007 CONCLUSIONS The diagnosis of DMD in the USA remains delayed due to failure in early CK screening. A late diagnosis has implications for both child and family. Steps should be taken to educate all providers involved in the care of young children on the common DMD presentations and the importance of early CK screening From Ciafaloni, Pandya, Fox, Matthews, Mathews, Miller, and MD STARnet

8. TM MD STARnet - Steroid Use PRELIMINARY DATA  476 cases of which 272 did not use steroids  159 used steroids for more than 1 year and 45 used steroids for 1 year or less  Of the 476 cases 219 have ceased ambulation ◊Patients who had used steroids for more than 1 year had a larger proportion still ambulating compared with those who had not used steroids at all (F=7.12, p=0.009) ◊Statistical significant difference in the mean age that ambulation ceased between those never on steroids and those on steroids for at least 1 year (F=5.60, p=0.0043) –Those on steroids for less than 1 year neither saw a significant benefit nor decline

9. TM From David Matthews