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1.  Reevaluating Measures of Disease Progression in Facioscapulohumeral Muscular Dystrophy 
Neuromuscular disorders : NMD  2013;23(4):306-312.
Recent advances in the understanding of the molecular pathophysiology of facioscapulohumeral muscular dystrophy (FSHD) have identified potential therapeutic targets. Consequently, an accurate understanding of disease progression in FSHD is crucial for the design of future clinical trials. Data from 228 subjects in 3 clinical trials and 1 natural history study were compared to examine disease progression in FSHD. All studies utilized the same techniques for manual muscle testing and maximum voluntary isometric contraction testing. Both techniques yield a total strength score that can be followed over time as an indicator of disease progression. Whereas natural history data showed a decrease in strength over 1 year, there was an apparent increase in strength at 6 months in 2 of the 3 clinical trials in both the placebo and treatment groups, that persisted for up to 1 year for maximum voluntary isometric contraction testing. Variability estimates from the clinical trial data were consistent with those seen in the natural history data. Patients in clinical trials in FSHD may have better outcomes than those in natural history studies, regardless of treatment assignment, emphasizing the importance of placebo groups and the need for caution when interpreting the strength results of controlled and uncontrolled trials.
doi:10.1016/j.nmd.2013.01.008
PMCID: PMC3602208  PMID: 23406877
1. All neuromuscular disease; 2. Muscle disease; 3. Outcome research; 4. All clinical trials; 5. Clinical trials methodology/study design
2.  Patient-reported impact of symptoms in myotonic dystrophy type 1 (PRISM-1) 
Neurology  2012;79(4):348-357.
Objective:
To determine the most critical symptoms in a national myotonic dystrophy type 1 (DM1) population and to identify the modifying factors that have the greatest effect on the severity of these symptoms.
Methods:
We performed a cross-sectional study of 278 adult patients with DM1 from the national registry of patients with DM1 between April and August 2010. We assessed the prevalence and relative significance of 221 critical DM1 symptoms and 14 disease themes. These symptoms and themes were chosen for evaluation based on prior interviews with patients with DM1. Responses were categorized by age, CTG repeat length, gender, and duration of symptoms.
Results:
Participants with DM1 provided symptom rating survey responses to address the relative frequency and importance of each DM1 symptom. The symptomatic themes with the highest prevalence in DM1 were problems with hands or arms (93.5%), fatigue (90.8%), myotonia (90.3%), and impaired sleep or daytime sleepiness (87.9%). Participants identified fatigue and limitations in mobility as the symptomatic themes that have the greatest effect on their lives. We found an association between age and the average prevalence of all themes (p < 0.01) and between CTG repeat length and the average effect of all symptomatic themes on participant lives (p < 0.01).
Conclusions:
There are a wide range of symptoms that significantly affect the lives of patients with DM1. These symptoms, some previously underrecognized, have varying levels of importance in the DM1 population and are nonlinearly dependent on patient age and CTG repeat length.
doi:10.1212/WNL.0b013e318260cbe6
PMCID: PMC3400095  PMID: 22786587
3.  Plasma Exchange vs. Intravenous Immunoglobulin for Myasthenia Gravis Crisis: An Acute Hospital Cost Comparison Study 
Objective
To compare the short term financial costs of treating a patient in myasthenia gravis crisis (MGC) with intravenous immunoglobulin (IVIG) versus plasma exchange (PLEX).
Methods
An itemized comparative cost-minimization analysis of IVIG vs. plasma exchange for MGC was performed. Calculations were based on each therapy’s implementation cost, associated hospitalization times, and predicted cost to treat known complications. A cost superiority determination was proposed based on the total cost profile of each therapy.
Results
The difference in total cost favored IVIG over PLEX with an average savings of $22,326 per patient. Sensitivity analysis demonstrated that overall costs are highly dependent on IVIG dosing, hospital lengths of stay, and the number of plasma exchange days required.
Conclusions
The use of IVIG for MGC may be a short term cost minimizing therapy compared to PLEX. Additional prospective studies are required to evaluate the extended cost profile and efficacy of these therapies.
doi:10.1097/CND.0b013e31822c34dd
PMCID: PMC3291869  PMID: 22361692
4.  Laboratory Abnormalities in Patients with Myotonic Dystrophy Type 2 
Archives of neurology  2011;68(9):1180-1184.
Background
Myotonic dystrophy type-2 (DM2) is a recently discovered adult muscular dystrophy. Similar to DM1, this disease causes progressive debilitating weakness, clinical myotonia, and early cataracts, and is thought to cause widespread physiologic dysfunction of multiple organ systems.
Objective
To analyze and compile the laboratory abnormalities of patients with DM2.
Design
Baseline DM2 laboratory data were compiled representing 68 different types of laboratory tests and 1442 total studies.
Setting
University Medical Center.
Patients
Eighty-three adults with genetically confirmed or clinically probable DM2 were identified. Of these patients, 49 had documented baseline laboratory screening.
Main Outcome Measures
The individual frequencies of abnormal values in the population with DM2 studied.
Results
Of the 1442 studies, results for 359 (24.9%) were outside of their standard reference ranges. Of the 68 types of laboratory tests studied, 43 had values from fifteen or more different patients with DM2. The relative frequency of an abnormally elevated laboratory value was greater than 50% in several tests, including the levels of creatine kinase, total cholesterol, lactate dehydrogenase, and alanine aminotransferase (ALT). In addition, serum levels of immunoglobulin G (IgG) were low in 75% of all DM2 patients tested and absolute lymphocyte counts were low in 54% of all DM2 patients tested.
Conclusion
There is a high frequency of laboratory abnormalities in patients with DM2. These abnormalities provide insight into the widespread pathologic manifestations of DM2 and may form a basis for clinical monitoring and disease screening.
doi:10.1001/archneurol.2011.191
PMCID: PMC3429333  PMID: 21911698
5.  An Open-Label Trial of Recombinant Human Insulin-Like Growth Factor-I/Recombinant Human Insulin-Like Growth Factor Binding Protein-3 (rhIGF-1/rhIGFBP-3) in Myotonic Dystrophy Type 1 
Archives of Neurology  2010;68(1):37-44.
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 DM1.
Intervention
Participants received escalating dosages of subcutaneous rhIGF-1/rhIGFBP-3 over 24 weeks followed by a 16 week washout period.
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 on 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=0.0007) after treatment. Participants also experienced a mean reduction in triglyceride levels of 47 mg/dL (p=0.002), a mean increase in HDL levels of 5.0 mg/dL (p=0.03), a mean reduction in HbA1c of 0.15% (p=0.03), and a mean increase in testosterone level (in men) of 203 ng/dL (p=0.002) while on rhIGF-1/rhIGFBP-3. Mild reactions at the injection site occurred (n=9 participants), as did mild transient hypoglycemia (n=3), lightheadedness (n=2), and transient papilledema (n=1).
Conclusions
rhIGF-1/rhIGFBP-3 treatment was generally well tolerated in DM1. rhIGF-1/rhIGFBP-3 was associated with increased lean body mass and improvements in metabolism, but not with 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.
doi:10.1001/archneurol.2010.227
PMCID: PMC3374954  PMID: 20837825
6.  Mycophenolate mofetil for myasthenia gravis: a clear and present controversy 
Mycophenolate mofetil (MMF) has been used to treat myasthenia gravis (MG) for over 10 years. MMF’s use in the MG population stems from its theoretical mechanism of action and the medical literature that supports its benefit in MG patients. Recently, two large, double-blinded, placebo-controlled, randomized clinical trials were initiated to study the effectiveness of MMF for MG. One of these studies found no benefit in taking MMF with 20 mg of prednisone as compared to taking prednisone alone, while the other study demonstrated no advantage in taking MMF against placebo during a 36-week prednisone taper. This article critically reviews the medical literature on MMF’s use in MG and suggests further research avenues on this topic.
PMCID: PMC2646649  PMID: 19337460
myasthenia gravis; mycophenolate mofetil; CellCept

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