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DuchenneConnect Registry

This study is currently recruiting participants. (see Contacts and Locations)
Verified April 2016 by DuchenneConnect
Parent Project Muscular Dystrophy
Information provided by (Responsible Party):
DuchenneConnect Identifier:
First received: September 23, 2013
Last updated: April 21, 2016
Last verified: April 2016
DuchenneConnect is an online, patient-report registry for individuals with Duchenne and Becker muscular dystrophy and carrier females. The purpose of DuchenneConnect is to connect Duchenne and Becker patients with actively recruiting clinical trials and research studies, and to educate patients and families about Duchenne and Becker care and research. At the same time, DuchenneConnect is a valuable resource for clinicians and researchers in academia and industry, allowing access to a de-identified, aggregate dataset provided by patients and their families—information that is vital to advances in the care and treatment of Duchenne. DuchenneConnect is a member of PCORnet, the National Patient-Centered Clinical Research Network.

Duchenne Muscular Dystrophy
Becker Muscular Dystrophy

Study Type: Observational [Patient Registry]
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration: 40 Years
Official Title: DuchenneConnect: An International, Patient-Report Registry for Individuals With Duchenne/Becker Muscular Dystrophy (Member of TREAT-NMD Neuromuscular Alliance)

Resource links provided by NLM:

Further study details as provided by DuchenneConnect:

Primary Outcome Measures:
  • Genetic mutation [ Time Frame: Registrants are requested to update their medical history every 6-12 months, and they will be followed throughout their lifetime. ]
    Genetic mutation data is collected by patient report and verified by curation/review of genetic test report when provided. Genetic test report is requested for each registrant and is required for participation in global DMD (TREAT-NMD) registry.

Secondary Outcome Measures:
  • Ambulation status [ Time Frame: Registrants are requested to update their medical history every 6-12 months, and they will be followed throughout their lifetime. ]
    Ambulation status is assessed from several questions about mobility in home and away from home, ability to sit and stand, use of assistive devices, and age at full time wheelchair use.

Other Outcome Measures:
  • Corticosteroid use [ Time Frame: Registrants are requested to update their medical history every 6-12 months, and they will be followed throughout their lifetime. ]
    Data collected includes whether or not corticosteroids are used, and if so, name of corticosteroid, age started/stopped, dose and dosing regimen.

  • Cardiovascular status [ Time Frame: Registrants are requested to update their medical history every 6-12 months, and they will be followed throughout their lifetime. ]
    Multiple questions regarding cardiovascular symptoms, age at diagnosis of cardiomyopathy, use of cardiac medications, date of most recent echocardiogram and/or cardiac MRI, and the LVEF and/or LVSF value.

  • Respiratory status [ Time Frame: Registrants are requested to update their medical history every 6-12 months, and they will be followed throughout their lifetime. ]
    Assessed from questions about use of breathing devices, age at which breathing devices were started, date of most recent pulmonary function test (spirometry), and the FVC value (% predicted and raw FVC in liters).

Estimated Enrollment: 10000
Study Start Date: October 2007
Estimated Study Completion Date: October 2047
Estimated Primary Completion Date: October 2027 (Final data collection date for primary outcome measure)
Duchenne and Becker Muscular Dystrophy
Patients with Duchenne or Becker Muscular Dystrophy, as well as carrier females.

Detailed Description:

DuchenneConnect was created in 2007 by Parent Project Muscular Dystrophy (PPMD), with assistance from the NIH, the CDC, and Emory Genetics. In early 2011, PPMD alone began financing the registry's operation and maintenance, and is the sole guardian of DuchenneConnect and its material.

Questions may be addressed to the DuchenneConnect Coordinators at telephone 888-520-8675 or The DuchenneConnect Coordinators are certified genetic counselors who are available to answer questions regarding the registration process, genetic testing and counseling, and clinical trials and research studies.


Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
DuchenneConnect is primarily a United States registry, but we do welcome participants from other countries and we currently have over 100 countries represented in the registry.

Inclusion Criteria:

  • Diagnosis of Duchenne or Becker muscular dystrophy; Manifesting female carriers and asymptomatic female carriers also included in registry.

Exclusion Criteria:

  • Diagnosis of any other type of muscular dystrophy (including limb-girdle muscular dystrophy).
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT02069756

Contact: Ann Martin, MS, CGC 888-520-8675 ext option 2
Contact: Ann Lucas, MS, CGC 888-520-8675

United States, New Jersey
DuchenneConnect / PPMD Recruiting
Hackensack, New Jersey, United States, 07601
Contact: Ann Martin, MS, CGC    888-520-8675 ext option 2   
Sponsors and Collaborators
Parent Project Muscular Dystrophy
  More Information

Additional Information:
Bladen CL, Rafferty K, Straub V, Monges S, Moresco A, Dawkins H, Roy A, Chamova T, Guergueltcheva V, Korngut L, Campbell C, Dai Y, Barišić N, Kos T, Brabec P, Rahbek J, Lahdetie J, Tuffery-Giraud S, Claustres M, Leturcq F, Ben Yaou R, Walter MC, Schreiber O, Karcagi V, Herczegfalvi A, Viswanathan V, Bayat F, de la Caridad Guerrero Sarmiento I, Ambrosini A, Ceradini F, Kimura E, van den Bergen JC, Rodrigues M, Roxburgh R, Lusakowska A, Oliveira J, Santos R, Neagu E, Butoianu N, Artemieva S, Rasic VM, Posada M, Palau F, Lindvall B, Bloetzer C, Karaduman A, Topaloğlu H, Inal S, Oflazer P, Stringer A, Shatillo AV, Martin AS, Peay H, Flanigan KM, Salgado D, von Rekowski B, Lynn S, Heslop E, Gainotti S, Taruscio D, Kirschner J, Verschuuren J, Bushby K, Béroud C, Lochmüller H. The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia. Hum Mutat. 2013 Nov;34(11):1449-57. doi: 10.1002/humu.22390. Epub 2013 Aug 26.
Bladen CL, Salgado D, Monges S, Foncuberta ME, Kekou K, Kosma K, Dawkins H, Lamont L, Roy AJ, Chamova T, Guergueltcheva V, Chan S, Korngut L, Campbell C, Dai Y, Wang J, Barišić N, Brabec P, Lahdetie J, Walter MC, Schreiber-Katz O, Karcagi V, Garami M, Viswanathan V, Bayat F, Buccella F, Kimura E, Koeks Z, van den Bergen JC, Rodrigues M, Roxburgh R, Lusakowska A, Kostera-Pruszczyk A, Zimowski J, Santos R, Neagu E, Artemieva S, Rasic VM, Vojinovic D, Posada M, Bloetzer C, Jeannet PY, Joncourt F, Díaz-Manera J, Gallardo E, Karaduman AA, Topaloğlu H, El Sherif R, Stringer A, Shatillo AV, Martin AS, Peay HL, Bellgard MI, Kirschner J, Flanigan KM, Straub V, Bushby K, Verschuuren J, Aartsma-Rus A, Béroud C, Lochmüller H. The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations. Hum Mutat. 2015 Apr;36(4):395-402. doi: 10.1002/humu.22758. Epub 2015 Mar 17.

Responsible Party: DuchenneConnect Identifier: NCT02069756     History of Changes
Other Study ID Numbers: DC-PPMD-2013
Study First Received: September 23, 2013
Last Updated: April 21, 2016
Individual Participant Data  
Plan to Share IPD: Yes

Keywords provided by DuchenneConnect:
Muscular Dystrophy

Additional relevant MeSH terms:
Muscular Dystrophies
Muscular Dystrophy, Duchenne
Muscular Disorders, Atrophic
Muscular Diseases
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases
Genetic Diseases, Inborn
Genetic Diseases, X-Linked processed this record on April 28, 2017