Publications

The following list of publications have used data from The Duchenne Registry or recruited participants from The Duchenne Registry:

DMD genotype correlations from The Duchenne Registry: Endogenous exon skipping is a factor in prolonged ambulation for individuals with a defined mutation sub‐type.
Human Glossary Link Mutation. 2018 Sep;39(9):1193-1202
Wang RT, et al. 
DOI: 10.1002/humu.23561.

Read the PPMD blog on this article. Richard Wang, PhD, Stan Nelson, MD and their team of researchers at UCLA analyzed data entirely from The Duchenne Registry. They found a correlation between certain deletions and the age at loss of ambulation. In particular, they found that boys with exon 45 deletions and boys with exon 3-7 deletions had a later age at loss of ambulation (they walked longer) than other boys in the Registry. Cultured muscle cells from Duchenne boys with deletions of exons 3–7 or exon 45 showed higher naturally occurring skipping than other mutations, providing a potential biological rationale for the prolonged ambulation. These results highlight the utility of aggregating patient-reported data to reveal progression differences, identify potentially confounding factors and probe molecular mechanisms that may affect disease severity.

 

Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database.
Journal of Neuromuscular Diseases. 2017;4(4):293-306.
Koeks Z, et al.
DOI: 10.3233/JND-170280.

The objective of this study was to determine the effects of corticosteroids on major clinical outcomes of Duchenne in a large international cohort of patients. This study provides data on clinical outcomes across many healthcare settings and including a sizeable cohort of older patients. The data confirms the benefits of corticosteroid treatment on ambulation, need for scoliosis surgery, ventilation and, to a lesser extent, Glossary Link cardiomyopathy. This study underlines the importance of data collection via patient registries and the critical role of multi-center collaboration in the rare disease field.

 

Delayed onset of ambulation in boys with Duchenne muscular dystrophy: Potential use as an endpoint in clinical trials.
Neuromuscular Disorders. 2017; Oct;27(10):905-910.
Gissy J, et al.
DOI: 10.1016/j.nmd.2017.06.002.

Dr. Richard Finkel, a neurologist at Nemours Children's Hospital in Orlando, and his team wanted to determine if the age at onset of ambulation (age at first steps) was significantly later for toddlers with Duchenne compared to toddlers without Duchenne. We created a survey with questions focused on this topic and almost 500 registrants completed this survey. Dr. Finkel and his team analyzed the data from the DuchenneConnect survey, as well as data from MD STARnet and the Dutch Natural History Survey. They found that the age at onset of ambulation is significantly delayed in boys with Duchenne. They suggest that age at onset of ambulation could be a primary outcome measure in clinical trials involving treatment in early infancy.

 

Knowledge of carrier status and barriers to testing among mothers of sons with Duchenne or Becker muscular dystrophy.
Neuromuscular Disorders. 2016 Dec; 26(12):860-864.
Bogue L, et al.
DOI: 10.1016/j.nmd.2016.09.008.

This publication is an example of a study that recruited participants from DuchenneConnect rather than using registry data, and it is a study focused entirely on Glossary Link carrier women. Women were surveyed who have or had biological sons with Duchenne or Becker and were enrolled in DuchenneConnect. The objective was to identify barriers to carrier testing and the impact of carrier risk knowledge on cardiac and reproductive health management.

 

The TREAT-NMD DMD Global database: Analysis of More Than 7000 Duchenne Muscular Dystrophy Mutations.
Human Mutation. 2015 Apr;36(4):395-402.
Bladen CL, et al.
DOI: 10.1002/humu.22758.

This article describes the frequency and type of genetic mutations reported in the TREAT-NMD Duchenne registries around the world, including DuchenneConnect. We request copies of each registrant's genetic test report so we can share this data with the global registry and support research in Duchenne.

 

Online Self-Report Data for Duchenne Muscular Dystrophy Confirms Natural History and Can Be Used to Assess for Therapeutic Benefits.
PLOS Currents Muscular Dystrophy. 2014 Oct 17. Edition 1
Wang RT, et al.
DOI: 10.1371/currents.md.e1e8f2be7c949f9ffe81ec6fca1cce6a.

Dr. Stanley Nelson and his team at UCLA used data collected in DuchenneConnect between 2007 and 2011 for this study. They found that the data collected in DuchenneConnect is high quality and very similar to the data from natural history studies. This is important because using the Registry data for studies is much easier and less expensive than a traditional clinical trial. Dr. Nelson's team also looked at corticosteroids as well as commonly used supplements to determine which ones, either alone or in combination, may help to prolong ambulation.

 

The Burden of Duchenne Muscular Dystrophy: An International, Cross-sectional Study.
Neurology. 2014 Aug 5; 83(6): 529–536.
Landfeldt E, et al.
DOI: 10.1212/WNL.0000000000000669

This publication is an example of a study that recruited participants from DuchenneConnect rather than using registry data. Funded by GlaxoSmithKline (GSK), this study revealed the different costs accompanying living with Duchenne and the overall financial burden carried by affected families. The research was carried out in collaboration with TREAT-NMD Duchenne registries in Germany, Italy, the United Kingdom and the United States (DuchenneConnect). Researchers asked patients and their primary caregivers to complete a questionnaire on their experience of living with Duchenne and the impact this had on medical care, employment, leisure time and quality of life. A total of 770 patients/caregivers completed the survey, with the US having the largest number of participants (284).

 

The TREAT-NMD Duchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia.
Human Mutation. 2013 Nov;34(11):1449-57.
Bladen CL, et al.
DOI: 10.1002/humu.22390.

This article describes in detail how the TREAT-NMD national patient registries for Duchenne were established and how the registries have grown since their inception in 2007. The article highlights the registries success in fostering collaboration between academia, patient organizations and industry, ultimately leading to increased clinical trial opportunities for patients and translating directly to improvements in patient care and treatment options.

 

DuchenneConnect Registry Report.
PLoS Currents: Muscular Dystrophy. 2012 February 29; 4: RRN1309.
Rangel V, et al.
DOI: 10.1371/currents.RRN1309.

This is the first publication highlighting the registry data in DuchenneConnect. The data summarized was collected from the launch of DuchenneConnect in October 2007 through June 2011.