Needs management in families affected by childhood-onset dystrophinopathies.

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.

Health services received by individuals with duchenne/becker muscular dystrophy.

INTRODUCTION: Anecdotal reports from families and care providers suggest a wide variation in services received by individuals with Duchenne/Becker muscular dystrophy (DBMD). METHODS: We documented the type and frequency of health services received by individuals with DBMD using the Muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet) interview data released in June 2012. Interviews with eligible caregivers from 5 sites (Arizona, Colorado, Georgia, Iowa, and western New York) were conducted from April 2007 to March 2012. RESULTS: Two hundred ninety-six caregivers (66% of those contactable) participated in the interview. There were significant differences among sites in the specialists seen and services received. Concurrence with cardiac recommendations was higher than that with respiratory recommendations. CONCLUSIONS: The results of this survey support and quantify the anecdotal reports from families and care providers regarding the disparities in services received by individuals with DBMD. It remains to be determined whether these differences affect outcomes.

Open-label trial of recombinant human insulin-like growth factor 1/recombinant human insulin-like growth factor binding protein 3 in myotonic dystrophy type 1.

OBJECTIVE: To evaluate the safety and tolerability of recombinant human insulin-like growth factor 1 (rhIGF-1) complexed with IGF binding protein 3 (rhIGF-1/rhIGFBP-3) in patients with myotonic dystrophy type 1 (DM1). DESIGN: Open-label dose-escalation clinical trial. SETTING: University medical center. PARTICIPANTS: Fifteen moderately affected ambulatory participants with genetically proven myotonic dystrophy type 1. INTERVENTION: Participants received escalating dosages of subcutaneous rhIGF-1/rhIGFBP-3 for 24 weeks followed by a 16-week washout period. MAIN OUTCOME MEASURES: Serial assessments of safety, muscle mass, muscle function, and metabolic state were performed. The primary outcome variable was the ability of participants to complete 24 weeks receiving rhIGF-1/ rhIGFBP-3 treatment. RESULTS: All participants tolerated rhIGF-1/rhIGFBP-3. There were no significant changes in muscle strength or functional outcomes measures. Lean body muscle mass measured by dual-energy x-ray absorptiometry increased by 1.95 kg (P < .001) after treatment. Participants also experienced a mean reduction in triglyceride levels of 47 mg/dL (P = .002), a mean increase in HDL levels of 5.0 mg/dL (P = .03), a mean reduction in hemoglobin A(1c) levels of 0.15% (P = .03), and a mean increase in testosterone level (in men) of 203 ng/dL (P = .002) while taking rhIGF-1/rhIGFBP-3. Mild reactions at the injection site occurred (9 participants), as did mild transient hypoglycemia (3), lightheadedness (2), and transient papilledema (1). CONCLUSIONS: Treatment with rhIGF-1/rhIGFBP-3 was generally well tolerated in patients with myotonic dystrophy type 1. Treatment with rhIGF-1/rhIGFBP-3 was associated with increased lean body mass and improvement in metabolism but not increased muscle strength or function. Larger randomized controlled trials would be needed to further evaluate the efficacy and safety of this medication in patients with neuromuscular disease. TRIAL REGISTRATION: clinicaltrials.gov Identifier: NCT00233519.