DIAGNOSIS OF PATIENTS WITH DUCHENNE MUSCULAR DYSTROPHY (DMD)- RESULTS FROM A GLOBAL SURVEY OF HEALTHCARE PROVIDERS FROM NINE COUNTRIES
Author(s)
Narayanan S, Olesen D
PTC Therapeutics, Inc., South Plainfield, NJ, USA
Presentation Documents
OBJECTIVES: Evaluate the practice patterns associated with diagnosis of DMD in routine clinical practice settings across nine countries. METHODS: A quantitative survey was implemented in May 2017 in the U.S, Europe5 (Germany/France/Italy/Spain/UK), Turkey, Colombia, and Brazil among specialists treating a minimum threshold of DMD patients; physicians must have been in practice between 2-35yrs and spend >=25% of time in direct patient care. Fifty-minute survey (in local language) captured physician/site characteristics, dynamics of patient diagnostics, genetic testing, besides perceptions of early intervention and disease management, as well as specific DMD treatment attributes and stakeholder interactions. Descriptive statistics were computed. RESULTS: Preliminary analysis included 170 physicians (pediatric neurologist:51.8%; neuromuscular specialist:28.2%; adult neurologist:12.4%; duration in practice:16.5yrs; US:24.7%, Europe5:45.3%, Turkey:7.6%, Colombia:8.8%, Brazil:13.5%); 80.6% and 80.0% of physicians were affiliated with muscle centers and hospitals, respectively. Mean number of DMD patients in each practice:43.0; >90% were managed jointly by multiple healthcare providers (HCPs). In respective clinical practices, 72.0% of patients were diagnosed by the physicians themselves who were participating in this study and the rest by other specialties/HCP counterparts. Mean patient age when family first began noticing symptoms: 34.7months (SD:24.1months), when physician first became aware of these symptoms: 42.3months (SD:27.9months), and when DMD diagnosis was confirmed: 53.9months (SD:30.3months). 67.1% of patients received genetic testing to diagnose DMD; 82.3% and 58.2% received serum CK testing and muscle biopsy, respectively. Top3 reasons for not doing genetic testing were: reliance on results from other tests (e.g. serum CK, muscle biopsy), lack of reimbursement or insurance coverage, and family unwilling or uninterested. CONCLUSIONS: There is delay between the time parents of DMD patients first become aware of symptoms and when the DMD diagnosis is confirmed. One-third of the patients did not receive genetic testing for various reasons. Implications of these practice patterns on patient management and outcomes warrants scrutiny.
Conference/Value in Health Info
2017-11, ISPOR Europe 2017, Glasgow, Scotland
Value in Health, Vol. 20, No. 9 (October 2017)
Code
PSY105
Topic
Epidemiology & Public Health
Topic Subcategory
Disease Classification & Coding
Disease
Neurological Disorders