This case study describes the design and implementation of a small-scale, or pilot, study for collecting cross-sectional and longitudinal supplemental data on medical and nonmedical costs associated with selected muscular dystrophies. We recruited individuals with a confirmed diagnosis of Duchenne and Becker or myotonic muscular dystrophies identified by the population-based Muscular Dystrophy Surveillance, Tracking, and Research Network. We later analyzed our pilot study approach for the purpose of identifying successful components for future large-scale data collection. Readers are expected to learn about the challenges of designing and implementing a pilot study. Our evaluation included recruitment success, cross-sectional versus longitudinal data collection, and response patterns.

Introduction/aims: The multidisciplinary Duchenne muscular dystrophy (DMD) Care Considerations were developed to standardize care and improve outcomes. We provide cumulative cost estimates for selected key preventive (ie, excluding new molecular therapies and acute care) elements of the care considerations in eight domains (neuromuscular, rehabilitation, respiratory, cardiac, orthopedic, gastrointestinal, endocrine, psychosocial management) independent of completeness of uptake or provision of nonpreventive care.
Methods: We used de-identified insurance claims data from a large midwestern commercial health insurer during 2018. We used Current Procedural Terminology and national drug codes to extract unit costs for clinical encounters representing key preventive elements of the DMD Care Considerations. We projected per-patient cumulative costs from ages 5 to 25 years for these elements by multiplying a schedule of recommended frequencies of preventive services by unit costs in 2018 US dollars.
Results: Assuming a diagnosis at age 5 years, independent ambulation until age 11, and survival until age 25, we estimated 670 billable clinical events. The 20-year per-patient cumulative cost was $174 701 with prednisone ($2.3 million with deflazacort) and an expected total of $12 643 ($29 194) for out-of-pocket expenses associated with those events and medications.
Discussion: Standardized monitoring of disease progression and treatments may reduce overall costs of illness. Costs associated with these services would be needed to quantify potential savings. Our approach demonstrates a method to estimate costs associated with implementation of preventive care schedules.

Introduction/Aims: Scoliosis is a common comorbidity among individuals diagnosed with a dystrophinopathy. We examined associations between clinical predictors and scoliosis in childhood-onset dystrophinopathy.
Methods: The progression and treatment of scoliosis were obtained from data collected by the US population-based Muscular Dystrophy Surveillance, Tracking, and Research Network. Associations between loss of independent ambulation (LoA) and corticosteroid use and scoliosis outcomes (ages at or exceeding Cobb angle thresholds [10°, 20°, 30°]; surgery) were estimated using Kaplan-Meier curve estimation and extended Cox regression modeling.
Results: We analyzed curvature data for 513 of 1054 individuals ascertained. Overall, approximately one-half had at least one radiograph and one-quarter had a curvature of at least 20°. The average maximum curvature was 25.0° (standard deviation [SD]=21.5°) among all individuals and 42.8° (SD=18.8°) among those recommended for surgery. Higher adjusted hazards of curvature (aHR_(curvature) [95% confidence interval]) were found among individuals with LoA compared to those without LoA (aHR₍₁₀₎=6.2[4.4,8.7], aHR₍₂₀₎=15.3[7.4,31.7], aHR₍₃₀₎=31.6[7.7,128.9]), among individuals who did not use corticosteroids compared to those who did (aHR₍₁₀₎=1.2[0.9,1.7], aHR₍₂₀₎=1.8[1.1,2.7], aHR₍₃₀₎=2.3[1.3,4.0]), and among non-ambulatory individuals who used corticosteroids after LoA compared to those who did not (aHR₍₁₀₎=1.8[1.2,2.8], aHR₍₂₀₎=1.6[1.0,2.6], aHR₍₃₀₎=3.6[1.6,7.9]). Scoliosis surgery among individuals with LoA who did not use corticosteroids was more than double compared to those who used (aHR=2.3[1.3,4.2]).
Discussion: Our retrospective observational study suggests corticosteroids may delay spinal curvature progression and need for scoliosis surgery. Continuing corticosteroids after LoA also showed potential benefits of delaying curvature progression, additional studies are needed to confirm this finding or address the magnitude of benefit.

Background: Therapeutic trials are critical to improving outcomes for individuals diagnosed with Duchenne muscular dystrophy (DMD). Understanding predictors of clinical trial participation could maximize enrollment.
Methods: Data from six sites (Colorado, Iowa, Piedmont region North Carolina, South Carolina, Utah, and western New York) of the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet) were analyzed. Clinical trial participation and individual-level clinical and sociodemographic characteristics were obtained from medical records for the 2000-2015 calendar years. County-level characteristics were determined from linkage of the most recent county of residence identified from medical records and publicly available federal datasets. Fisher’s exact and Wilcoxon two-sample tests were used with statistical significance set at one-sided p-value (<0.05) based on the hypothesis that nonparticipants had fewer resources.
Results: Clinical trial participation was identified among 17.9% (MD STARnet site: 3.7-27.3%) of 358 individuals with DMD. Corticosteroids, tadalafil, and ataluren (PTC124) were the most common trial medications recorded. Fewer non-Hispanic blacks or Hispanics than non-Hispanic whites participated in clinical trials. Trial participants tended to reside in counties with lower percentages of non-Hispanic blacks. Conclusion: Understanding characteristics associated with clinical trial participation is critical for identifying participation barriers and generalizability of trial results. MD STARnet is uniquely able to track clinical trial participation through surveillance and describe patterns of participation.

Purpose: To collect information about the needs of families affected by childhood-onset dystrophinopathies residing in the United States.
Methods: Individuals with an eligible dystrophinopathy were identified by the Muscular Dystrophy Surveillance, Tracking, and Research network. Between September 2008 and December 2012, 272 caregivers completed a 48-item survey about needs related to information, healthcare services, psychosocial issues, finances, caregiver demographics, and the individual’s functioning.
Results: Overall, at least 80% of the survey items were identified as needs for more than one-half of caregivers. Among the needs identified, physical health and access to information were currently managed for most caregivers. Items identified as needed but managed less consistently were funding for needs not covered by insurance and psychosocial support.
Conclusions: Healthcare providers, public health practitioners, and policymakers should be aware of the many needs reported by caregivers, and focus on addressing gaps in provision of needed financial and psychosocial services.

Purpose: Duchenne and Becker muscular dystrophies, collectively referred to as dystrophinopathies, are X-linked recessive diseases that affect dystrophin production resulting in compromised muscle function across multiple systems. The International Classification of Functioning, Disability and Health provides a systematic classification scheme from which body functions affected by a dystrophinopathy can be identified and used to examine functional health.
Materials and methods: The infrastructure of the Muscular Dystrophy Surveillance, Tracking, and Research Network was used to identify commonly affected body functions and link selected functions to clinical surveillance data collected through medical record abstraction.
Results: Seventy-one (24 second-, 41 third- and 7 fourth-level) body function categories were selected via clinician review and consensus. Of these, 15 of 24 retained second-level categories were linked to data elements from the Muscular Dystrophy Surveillance, Tracking, and Research Network surveillance database.
Conclusions: Our findings support continued development of a core set of body functions from the International Classification of Functioning, Disability and Health system that are representative of disease progression in dystrophinopathies and the incorporation of these functions in standardized evaluations of functional health and implementation of individualized rehabilitation care plans. Implications for Rehabilitation Duchenne and Becker muscular dystrophies, collectively referred to as dystrophinopathies, are X-linked recessive disorders that affect the production of dystrophin resulting in compromised muscle function across multiple systems. The severity and progressive nature of dystrophinopathies can have considerable impact on a patient’s participation in activities across multiple life domains. Our findings support continued development of an International Classification of Functioning, Disability and Health core set for childhood-onset dystrophinopathies. A standardized dystrophinopathy International Classification of Functioning, Disability and Health documentation form can be used as a screening tool by rehabilitation professionals and for patient goal setting when developing rehabilitation plans. Patient reports of perceived functional health should be incorporated into the rehabilitation plan and therapeutic progress monitored by a standardized form.

Introduction: Genitourinary (GU) health among patients with Duchenne and Becker muscular dystrophies (DBMD) has not been explored using population-based data.
Methods: Medical records of 918 males ascertained by the Muscular Dystrophy Surveillance, Tracking, and Research Network were reviewed for documentation of GU-related hospitalizations and prescribed medications. Percentages of males who received these medical interventions were calculated, and hazard ratios (HRs) and 95% confidence intervals (CIs) were estimated for associations with sociodemographics (study site, race/ethnicity), symptoms (early- vs. late-onset, ambulation status, scoliosis), and treatments (respiratory support, steroids).
Results: Among the 918 males, 81 (9%) had a GU condition, with voiding dysfunction (n = 40), GU tract infection (n = 19), and kidney/ureter calculus (n = 9) most frequently seen. The Kaplan-Meier curve produced a cumulative probability of 27%. Cox regression showed GU conditions were more common when males were non-ambulatory (HR 2.7, 95% CI 1.3-5.6).
Conclusions: Our findings highlight the need for increased awareness of GU health and multidisciplinary care of DBMD patients.

Objective: To describe the occurrence of selected neurobehavioral concerns among males with a dystrophinopathy and explore associations with corticosteroid or supportive device use.
Method: Medical record abstraction of neurobehavioral concerns was conducted for 857 affected males from 765 families, born since 1982 and followed through 2011, and enrolled in the population-based Muscular Dystrophy Surveillance, Tracking, and Research Network. Cumulative probabilities for attention deficit/hyperactivity disorder (ADHD), behavior problems, and depressed mood were calculated from Kaplan-Meier estimates for the subsample of oldest affected males (n=765). Hazard ratios (HRs) and 95% confidence intervals (95%CIs) for corticosteroid and supportive device use were estimated from Cox regression models with time-dependent covariates.
Results: Of the 857 affected males, 375 (44%) had at least one of the three selected neurobehavioral concerns; a similar percentage (45%) was found among the 765 oldest affected males. The estimated cumulative probabilities among these oldest affected males were 23% for ADHD, 43% for behavior problems, and 51% for depressed mood. Corticosteroid (HR=2.35, 95%CI=1.75,3.16) and mobility device (HR=1.53, 95%CI=1.06,2.21) use were associated with behavior problems. Use of a mobility device (HR=3.53, 95%CI=2.13,5.85), but not corticosteroids, was associated with depressed mood. ADHD was not significantly associated with corticosteroid or mobility device use. Respiratory assist device use was not examined due to low numbers of users prior to onset of neurobehavioral concerns.
Conclusion: Selected neurobehavioral concerns were common among males with a dystrophinopathy. Reported associations highlight the importance of increased monitoring of neurobehavioral concerns as interventions are implemented and disease progresses.

Objective: To estimate prevalence of childhood-onset Duchenne and Becker muscular dystrophies (DBMD) in 6 sites in the United States by race/ethnicity and phenotype (Duchenne muscular dystrophy [DMD] or Becker muscular dystrophy [BMD]).
Methods: In 2002, the Centers for Disease Control and Prevention established the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet) to conduct longitudinal, population-based surveillance and research of DBMD in the United States. Six sites conducted active, multiple-source case finding and record abstraction to identify MD STARnet cases born January 1982 to December 2011. We used cross-sectional analyses to estimate prevalence of DBMD per 10 000 boys, ages 5 to 9 years, for 4 quinquennia (1991-1995, 1996-2000, 2001-2005, and 2006-2010) and prevalence per 10 000 male individuals, ages 5 to 24 years, in 2010. Prevalence was also estimated by race/ethnicity and phenotype.
Results: Overall, 649 cases resided in an MD STARnet site during ≥1 quinquennia. Prevalence estimates per 10 000 boys, ages 5 to 9 years, were 1.93, 2.05, 2.04, and 1.51, respectively, for 1991-1995, 1996-2000, 2001-2005, and 2006-2010. Prevalence tended to be higher for Hispanic individuals than non-Hispanic white or black individuals, and higher for DMD than BMD. In 2010, prevalence of DBMD was 1.38 per 10 000 male individuals, ages 5 to 24 years.
Conclusions: We present population-based prevalence estimates for DBMD in 6 US sites. Prevalence differed by race/ethnicity, suggesting potential cultural and socioeconomic influences in the diagnosis of DBMD. Prevalence also was higher for DMD than BMD. Continued longitudinal surveillance will permit us to examine racial/ethnic and socioeconomic differences in treatment and outcomes for MD STARnet cases.

Background: Complementary and alternative medicine is frequently used in the management of chronic pediatric diseases, but little is known about its use by those with Duchenne or Becker muscular dystrophy.
Methods: Complementary and alternative medicine use by male patients with Duchenne or Becker muscular dystrophy and associations with characteristics of male patients and their caregivers were examined through interviews with 362 primary caregivers identified from the Muscular Dystrophy Surveillance, Tracking, and Research Network.
Results: Overall, 272 of the 362 (75.1%) primary caregivers reported that they had used any complementary and alternative medicine for the oldest Muscular Dystrophy Surveillance, Tracking, and Research Network male in their family. The most commonly reported therapies were from the mind-body medicine domain (61.0%) followed by those from the biologically based practice (39.2%), manipulative and body-based practice (29.3%), and whole medical system (6.9%) domains. Aquatherapy, prayer and/or blessing, special diet, and massage were the most frequently used therapies. Compared with nonusers, male patients who used any therapy were more likely to have an early onset of symptoms and use a wheel chair; their caregivers were more likely to be non-Hispanic white. Among domains, associations were observed with caregiver education and family income (mind-body medicines [excluding prayer and/or blessing only] and whole medical systems) and Muscular Dystrophy Surveillance, Tracking, and Research Network site (biologically based practices and mind-body medicines [excluding prayer and/or blessing only]).
Conclusions: Complementary and alternative medicine use was common in the management of Duchenne and Becker muscular dystrophies among Muscular Dystrophy Surveillance, Tracking, and Research Network males. This widespread use suggests further study to evaluate the efficacy of integrating complementary and alternative medicine into treatment regimens for Duchenne and Becker muscular dystrophies.

Diagnosis of a child with Duchenne or Becker muscular dystrophy (DBMD) may impact future maternal reproductive choice; however, little is known about the reproductive patterns of mothers with a male child diagnosed with DBMD. Using population-based surveillance data collected by the muscular dystrophy surveillance, tracking, and research network, the proportion of mothers who conceived and delivered a live birth following the diagnosis of DBMD in an affected male child and factors associated with such reproductive choice were identified. To accomplish this, maternal demographic data were linked to birth certificate data to construct the reproductive history for 239 mothers. Univariable and bivariable analyses were conducted to determine the proportion of mothers delivering a live birth and associated factors. By the time of the current study, 96 (40.2%) of the 239 mothers had at least one live birth following delivery of their oldest affected male child; 53 (22.2%) of these mothers had a live birth before and 43 (18.0%) had a live birth after DBMD diagnosis of a male child. Mothers with a live birth after diagnosis were significantly younger at diagnosis of the oldest affected male child (26.2 ± 4.2 years vs. 31.5 ± 5.5 years), and were less likely to be white non-Hispanic compared to those with no live birth after diagnosis. These results suggest that about one in five mothers deliver a live birth subsequent to DBMD diagnosis in a male child. Maternal age and race/ethnicity were associated with this reproductive choice.

Use of complementary and alternative medicine by males with Duchenne or Becker muscular dystrophy was examined using interview reports from caregivers enrolled in the population-based Muscular Dystrophy Surveillance, Tracking, and Research Network. Of the 200 caregivers interviewed, 160 (80%) reported “ever” using complementary and alternative medicine for their affected children. Mind-body medicine (61.5%) was most frequently used, followed by biologically based practices (48.0%), manipulative and body-based practices (29.0%), and whole medical systems (8.5%). Caregivers reporting use of whole medical systems had higher education and income levels compared with nonusers; affected males had shorter disease duration. Caregivers reporting use of mind-body medicine, excluding aquatherapy, had higher education level compared with nonusers. Overall, complementary and alternative medicine use was high; disease duration, education, and income levels influenced use. These findings have implications for developing clinical care protocols and monitoring possible interactions between complementary and alternative medicine and conventional medical therapies.

The Muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet) is a multisite collaboration to determine the prevalence of childhood-onset Duchenne/Becker muscular dystrophy and to characterize health care and health outcomes in this population. MD STARnet uses medical record abstraction to identify patients with Duchenne/Becker muscular dystrophy born January 1, 1982 or later who resided in 1 of the participating sites. Critical diagnostic elements of each abstracted record are reviewed independently by >4 clinicians and assigned to 1 of 6 case definition categories (definite, probable, possible, asymptomatic, female, not Duchenne/Becker muscular dystrophy) by consensus. As of November 2009, 815 potential cases were reviewed. Of the cases included in analysis, 674 (82%) were either ”definite” or ”probable” Duchenne/Becker muscular dystrophy. These data reflect a change in diagnostic testing, as case assignment based on genetic testing increased from 67% in the oldest cohort (born 1982-1987) to 94% in the cohort born 2004 to 2009.

Muscular dystrophies are a group of genetic diseases characterized by progressive skeletal muscle weakness and muscle cell death with replacement of muscle cells by fibrosis and fat. The most common muscular dystrophy in children is Duchenne muscular dystrophy (DMD), which predominantly affects males. Historically, DMD has resulted in loss of ambulation between ages 7 and 13 years and death in the teens or 20s. The average age at diagnosis is 5 years, despite earlier onset of symptoms. Becker muscular dystrophy is similar to DMD but has later onset and slower, more variable progression of symptoms. Birth prevalence of DMD has been estimated at 1 in 3,500 (2.9 per 10,000) male births and Becker muscular dystrophy at 1 in 18,518 (0.5 per 10,000) male births. To estimate the population-based prevalence of Duchenne/Becker muscular dystrophy (DBMD) and describe selected clinical outcomes, CDC and investigators from the Muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet) analyzed data for males born during 1983-2002 that were reported to the MD STARnet from four participating states. This report summarizes those findings, which indicated overall state-specific prevalences on January 1, 2007, of 1.3-1.8 per 10,000 males aged 5–24 years. Among MD STARnet subjects, more than 90% of males with DBMD aged >or=15 years used wheelchairs. Nearly 60%percnt; of males with DBMD born during 1983-1987 had survived through 2007, emphasizing the need to develop and implement programs that address lifelong needs of males with DBMD.