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Roll With It: Practical Travel Tips for Duchenne Families

Although physical disabilities can make travel more challenging, they don’t have to keep you from traveling altogether. Read on to see how to plan accordingly and make your travel experience easier and more enjoyable. Before leaving for your trip...

Don’t You Worry Mommy

Don’t You Worry Mommy “Don’t you worry mommy.” Those four words have been said by my 5-year-old son numerous times and almost as if he knows something that I don’t. Those four words are filled with such wisdom and faith, yet it is easier said than done. As a par...

2019 World Duchenne Day

  World Duchenne Day Saturday, September 7th, 2019...

Duchenne Muscular Dystrophy and Diabetes

Learning your child has type 1 diabetes is scary. Learning your child has Duchenne is heartbreaking. Learning your child has both is absolutely dreadful. My...

One Year Anniversary

“The greatness of a community is most accurately measured by the compassionate actions of its members.” – Coretta Scott King Just over a year ago, the entire D...

Gene Therapy for Duchenne Muscular Dystrophy

Gene Therapy for Duchenne Muscular Dystrophy Gene therapy offers the prospect of long-term and potentially curative benefits to patients with a genetic disease, including Duchenne muscular dystrophy. Today, three Duchenne gene t...
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A Message from Debra Miller, Founder and CEO CureDuchenne

CureDuchenne
Receiving the diagnosis for Duchenne was the scariest time of my life and I know all about the emotions you are feeling. Equipping yourself with the knowledge you need to get the best care for your child is the best thing you can do. Connecting with other families who are going through the same thing can be incredibly helpful as well. Once I had the confidence that I was going down the right path of care for my son, I founded the nonpr...

About Genetic Counseling

National Society of Genetic Counselors (NSGC)
Most genetic counselors work in a clinic or hospital, and often work with obstetricians, oncologists and other doctors. Like doctors, genetic counselors can work in a variety of settings and provide different services. They may provide general care, or specialize in one or more areas, including: • Prenatal and Preconception – for those who are pregnant or thinking about becoming pregnant • Pediatric – for children and their...

Inside “Custom Cars” For Gene Delivery

Get Science
Gene therapy shows great promise to be potentially transformational treatments for a number of single-gene disorders, such as Duchenne muscular dystrophy, hemophilia and cystic fibrosis. Gene therapy uses an engineered vector to deliver a replacement copy of a gene to diseased cells. In the case of single-gene disorders, introducing a working gene can help restore function of a faulty or missing protein.  While it’s a straightfo...

Steroid use in duchenne: Expert dialogue on latest data

CureDuchenne
Healthcare professionals, personal caregivers and family members of those with Duchenne muscular dystrophy gathered to learn about new data and best practices for steroid use in Duchenne at a webinar recorded on December 11. This free web broadcast featured a dialog between three physician experts and an experienced Duchenne parent/caregiver. Participants were able to ask and answer questions in the interactive format. Hosted by...

CureDuchenne – Treating the Whole Disease

CureDuchenne
Duchenne muscular dystrophy is a multifaceted, complex disease, so CureDuchenne has been working to “treat the whole disease,” with a multi-pronged approach to find treatments for the many effects that Duchenne has on the body. The ultimate goal is to offer cures for all patients. The exon-skipping drugs drisapersen and eteplirsen a...

Realizing the promise of gene therapy through collaboration and partnering: Pfizer’s view

Pfizer
Gene therapy is a promising approach to altering the genetic composition of cells as a way to correct disease causing mutations or to express proteins or RNA molecules that confer a therapeutic benefit. The concept of gene therapy is straightforward: deliver nucleic acids to target cells to alter their function in a beneficial manner. Moving from concept to reality, however, is a complex process comprised of multiple steps and components, incl...
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Gene Therapy as a Potential Therapeutic Option for Duchenne Muscular Dystrophy: A Qualitative Preference Study of Patients and Parents

PloS one
Objectives: Duchenne muscular dystrophy (DMD) is a rare neuromuscular disorder that causes progressive weakness and early death. Gene therapy is an area of new therapeutic development. This qualitative study explored factors influencing parents’ and adult patients’ preferences about gene therapy. Methods: We report qualitative data from 17 parents of children with DMD and 6 adult patients...

Priorities When Deciding on Participation in Early-Phase Gene Therapy Trials for Duchenne Muscular Dystrophy: A Best–Worst Scaling Experiment in Caregivers and Adult Patients

Orphanet Journal of Rare Diseases
Purpose: Several gene therapy trials for Duchenne muscular dystrophy initiated in 2018. Trial decision making is complicated by non-curative, time-limited benefits; the progressive, fatal course; and high unmet needs. Here, caregivers and patients prioritize factors influencing decision making regarding participation in early-phase gene therapy trials. Methods: We conducted a best-worst s...

Moderate exercise improves function and increases adiponectin in the mdx mouse model of muscular dystrophy

Scientific Reports
The loss of dystrophin produces a mechanically fragile sarcolemma, causing muscle membrane disruption and muscle loss. The degree to which exercise alters muscular dystrophy has been evaluated in humans with Duchenne Muscular Dystrophy (DMD) and in mouse models including the mdx mouse but with inconsistent findings. We now examined two different levels of exercise, moderate and low intensity, in the mdx mouse model in the DBA2J background. mdx...

Report of a TREAT-NMD/World Duchenne Organisation Meeting on Dystrophin Quantification Methodology

Journal of Neuromuscular Diseases
Representatives of academia, patient organisations, industry and the United States Food and Drug Administration attended a workshop on dystrophin quantification methodology. The aims of the workshop were to provide an overview of methods used to quantify dystrophin levels in human skeletal muscle and their applicability to clinical trial samples, outline the gaps with regards to validating the methods for robust clinical applications prior to...

A Review of MD STAR net’s Research Contributions to Pediatric-Onset Dystrophinopathy in the United States; 2002-2017

Journal of Child Neurology
Population studies of rare disorders, such as Duchenne and Becker muscular dystrophies (dystrophinopathies), are challenging due to diagnostic delay and heterogeneity in disorder milestones. To address these challenges, the Centers for Disease Control and Prevention established the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STAR net) in 2002 in the United States. From 2002 to 2012, MD STAR net longitudinally tracked th...

“Of Mice and Measures”: A Project to Improve How We Advance Duchenne Muscular Dystrophy Therapies to the Clinic First Workshop Report: Examining current findings and opportunities around the emerging D2.B10-Dmdmdx/J (D2/mdx) model in context of the classic C57BL/10ScSn-Dmdmdx/J (Bl10/mdx)

Journal of Neuromuscular Diseases
A new line of dystrophic mdx mice on the DBA/2J (D2) background has emerged as a candidate to study the efficacy of therapeutic approaches for Duchenne muscular dystrophy (DMD). These mice harbor genetic polymorphisms that appear to increase the severity of the dystropathology, with disease modifiers that also occur in DMD patients, making them attractive for efficacy studies and drug development. This workshop aimed at collecting and consolid...
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Evaluating implementation of the updated care considerations for Duchenne muscular dystrophy

Pediatrics

Care Considerations for Duchenne Muscular Dystrophy were published in 2010. However, little is known about the extent to which these considerations were implemented after publication. With this article, we provide direction on evaluating the uptake of the 2018 Duchenne Muscular Dystrophy Care Considerations. We identify key elements of care and present suggestions for their use in evaluation and research.

A transition toolkit for Duchenne muscular dystrophy

Pediatrics
The care of individuals with Duchenne muscular dystrophy (DMD) now extends into adulthood. Childhood to adulthood transition planning is an important aspect of care, affecting health outcomes as well as other important aspects of adult life. In this article, we address transition planning as it relates to DMD health care, education, steps toward vocations, personal care, accessing the home and community, and the importance of relationships wit...

Primary care and emergency department management of the patient with Duchenne muscular dystrophy

Pediatrics
Primary care providers (PCPs) are usually the first point of contact with the health care system for patients with Duchenne muscular dystrophy (DMD), and patients often present to emergency departments in which providers have little experience in dealing with this condition. With this article, we give primary care and emergency medicine providers a background in the common issues that affect people with DMD. By acquiring some specialized knowl...

Orthopedic and surgical management of the patient with Duchenne muscular dystrophy

Pediatrics
Orthopedic care is an important aspect of the overall management of patients with Duchenne muscular dystrophy (DMD). In addition to progressive muscle weakness and loss of function, patients may develop joint contractures, scoliosis, and osteoporosis, causing fractures; all of these necessitate intervention by a multidisciplinary team including an orthopedic surgeon as well as rehabilitation specialists such as physio- and occupational therapi...

Cardiac management of the patient with Duchenne muscular dystrophy

Pediatrics
Duchenne muscular dystrophy (DMD) results in a progressive cardiomyopathy that produces significant morbidity and mortality. To improve the quality of life in patients with DMD, cardiac care is focused on surveillance and management, with the goal of slowing the onset and progression of heart failure complications. The current article is intended to be an expanded review on the cardiac management data used to inform the 2018 DMD Care Considera...

Respiratory management of the patient with Duchenne muscular dystrophy

Pediatrics
In 2010, Care Considerations for Duchenne Muscular Dystrophy, sponsored by the Centers for Disease Control and Prevention, was published in Lancet Neurology, and in 2018, these guidelines were updated. Since the publication of the first set of guidelines, survival of individuals with Duchenne muscular dystrophy has increased. With contemporary medical management, survival often extends into the fourth decade of life and beyond. Effective trans...
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DMD clinical therapies II: P.135 DMD-HUB: expanding clinical trial capacity for Duchenne muscular dystrophy, 1 year on

Neuromuscular Disorders
The need to increase capacity for Duchenne muscular dystrophy (DMD) trials and improve trial readiness was identified. Specifically, clinicians in established UK clinical trial centres involved in multiple DMD studies were reaching capacity, while centers with capacity lacked the expertise and needed support to develop and achieve the requirements set by industry to run clinical trials. The DMD-Hub was set up as a unique partnership betw...

DMD clinical therapies II: P.133 The burden of participation in a clinical trial for boys with Duchenne muscular dystrophy

Neuromuscular Disorders
Despite some medical breakthroughs in Duchenne muscular dystrophy, no cure is available at this moment. New therapies are studied in clinical trials (CT) in boys with DMD. The investments of those boys and their families participating in CT may not be underestimated: time investment, impact on family activities, absence at work and school, side effects of the medication, systematic medical examinations. There is a certain burden that comes wit...

New therapeutic approaches: I.9 Treatment of Duchenne muscular dystrophy: current efforts, bottlenecks and future prospects

Neuromuscular Disorders
In the last decade a number of therapeutic approaches for Duchenne muscular dystrophy has become available and there has been a proliferation of clinical trials. Several initial approaches have focused on attempts to restore dystrophin production by targeting specific groups of mutations. These have focused out of frame deletions with antisense oligonucleotides, or nonsense mutations with drugs allowing partial read through. These attemp...

Exhaustive characterization of the newly developed Duchenne muscular dystrophy rat model: a unique animal model for DMD which mimics the human disease at both the muscular and the cardiac levels

Neuromuscular Disorders
Duchenne muscular dystrophy (DMD) is a severe muscle-wasting disorder caused by mutations in the gene encoding dystrophin. The evaluation of potential therapeutic products requires relevant animal models exhibiting a phenotype very close to those observed in human patients. If both large and small animal species deficient for dystrophin (especially mice and dogs) have been extensively used for preclinical studies of DMD, they present some limitat...

Finding clinical meaning in patient-reported functional health: development of the Duchenne muscular dystrophy lifetime mobility scale

Neuromuscular Disorders
Person-reported outcome (PRO) measures for DMD clinical trials should be tied to meaningful disease milestones such as loss of ability to stand, rise from a chair, climb stairs, walk independently, raise a hand to the mouth, as well as need for non-invasive ventilation. We developed the DMD lifetime mobility scale (DMD-LMS) with data from the CINRG Duchenne natural history study, using mobility items from the PODCI, PedsQL, PedsQL NMM, pediatric...

The 100-meter timed test: ability to detect change over time in Duchenne muscular dystrophy

Neuromuscular Disorders
The 100-meter timed test (100m) has been proposed as an outcome measure for use in Duchenne muscular dystrophy (DMD) that has the potential to expand the recruitment pool to include both younger and more able boys as it is a concrete concept of running 2 laps around a set of cones. Many of the current assessments used in DMD have a ceiling effect as the most able boys can achieve a perfect score. The 100m eliminates the ceiling effect by allowing...
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Understanding Neuromuscular Disease Care

IQVIA Institute Report
Neuromuscular diseases (NMD) encompass a broad group of disorders that collectively impact an estimated 250,000 patients in United States. Currently, treatment options for these diseases are limited; however, the financial impact is staggering with costs related to neuromuscular disease exceeding $46 billion dollars annually. This new report, funded by the Muscular Dystrophy Association (MDA), shows that advancements in genetic testing and pre...

eDystrophin : A Database Dedicated to Human Dystrophin Variants

EDystrophin

eDystrophin is a database dedicated to human dystrophin variants produced by in-frame DMD gene mutations. This website takes you from the GENE to the PROTEINS through structural investigation and visualization. It is a locus specific database for in-frame mutations and single-nucleotide polymorphism (SNPs) found in the DMD gene and the associated dystrophin variants.

 

Duchenne Muscular Dystrophy and Becker Muscular Dystrophy: Professional Version

MSD Manual
Duchenne dystrophy and Becker dystrophy are the second most prevalent muscular dystrophy. They are caused by mutations of the dystrophin gene, the largest known human gene, at the Xp21.2 locus. In Duchenne dystrophy, this mutation results in the severe absence (< 5%) of dystrophin, a protein in the muscle cell membrane. In Becker dystrophy, the mutation results in production of abnormal dystrophin or insufficient dystrophin. Duchenne dystro...

Duchenne Muscular Dystrophy: Clinical Features, Genetics, and Inheritance

Online Mendelian Inheritance in Man
Dystrophin-associated muscular dystrophies range from the severe Duchenne muscular dystrophy (DMD) to the milder Becker muscular dystrophy (BMD; 300376). Mapping and molecular genetic studies indicate that both are the result of mutations in the huge gene that encodes dystrophin, also symbolized DMD. Approximately two-thirds of the mutations in both forms are deletions of one or many exons in the dystrophin gene. Although there is no c...

Emerging drugs for duchenne muscular dystrophy

Canadian Agency for Drugs and Technologies in Health
Duchenne muscular dystrophy (DMD) is a rare and severe disorder that affects primarily young boys. It begins with progressive muscle weakness that evolves to loss of ambulation and further progresses to early morbidity and mortality. DMD is caused by a mutation of the dystrophin gene that results in a lack of dystrophin, a protein that is necessary for muscle cell function. The mainstays of current therapy to treat DMD are corticosteroids and ass...

Duchenne Muscular Dystrophy: A Book by StatPearls Publishing

StatPearls Publishing
This book deals with etiology, epidemiology, pathophysiology, histopathology, history and physical evaluation, treatment /management, differential diagnosis and prognosis of Duchenne muscular dystrophy (DMD) in brief. DMD is one of the most severe forms of inherited muscular dystrophies. It is the most common hereditary neuromuscular disease and does not exhibit a predilection for any race or ethnic group. Mutations in the dystrophin gene lead...
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