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The Duchenne Registry

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ClinicalTrials.gov Identifier: NCT02069756
Recruitment Status : Recruiting
First Posted : February 24, 2014
Last Update Posted : May 4, 2022
Sponsor:
Collaborator:
Parent Project Muscular Dystrophy
Information provided by (Responsible Party):
The Duchenne Registry

Study Description
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Brief Summary:
The Duchenne Registry is an online, patient-report registry for individuals with Duchenne and Becker muscular dystrophy and carrier females. The purpose of the Registry 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, The Duchenne Registry is a valuable resource for clinicians and researchers in academia and industry, allowing access to de-identified, aggregate datasets provided by patients and their families-information that is vital to advances in the care and treatment of Duchenne. The Duchenne Registry is a member of the TREAT-NMD Neuromuscular Network.

Condition or disease
Duchenne Muscular Dystrophy Becker Muscular Dystrophy

Detailed Description:

The Duchenne Registry (previously 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 The Duchenne Registry and its material.

Questions may be addressed to the Duchenne Registry Coordinators at telephone 888-520-8675 or coordinator@duchenneregistry.org. The Duchenne Registry 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.

Study Design
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Study Type : Observational [Patient Registry]
Estimated Enrollment : 10000 participants
Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration: 40 Years
Official Title: The Duchenne Registry: An International, Patient-Report Registry for Individuals With Duchenne and Becker Muscular Dystrophy (Member of TREAT-NMD Neuromuscular Network)
Actual Study Start Date : October 2007
Estimated Primary Completion Date : October 2027
Estimated Study Completion Date : October 2047

Resource links provided by the National Library of Medicine


Groups and Cohorts
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Group/Cohort
Duchenne and Becker Muscular Dystrophy
Patients with Duchenne or Becker Muscular Dystrophy, as well as carrier females.


Outcome Measures
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Primary Outcome Measures :
  1. 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 :
  1. 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, ability to sit and stand, use of assistive devices, and age at full time wheelchair use.


Other Outcome Measures:
  1. 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.

  2. 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.

  3. 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).


Eligibility Criteria
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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
The Duchenne Registry 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.
Criteria

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
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Top of Page Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02069756


Contacts
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Contact: Ann Martin, MS, CGC 888-520-8675 coordinator@duchenneregistry.org

Locations
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United States, District of Columbia
The Duchenne Registry / PPMD Recruiting
Washington, District of Columbia, United States, 20005
Contact: Ann Martin, MS, CGC    888-520-8675    coordinator@duchenneregistry.org   
Contact: Niki Armstrong, MS, CGC    888-520-8675    coordinator@duchenneregistry.org   
Sponsors and Collaborators
The Duchenne Registry
Parent Project Muscular Dystrophy
More Information
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Top of Page Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information
Additional Information:

Publications of Results:
Bladen CL, Rafferty K, Straub V, Monges S, Moresco A, Dawkins H, Roy A, Chamova T, Guergueltcheva V, Korngut L, Campbell C, Dai Y, Barisic 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, Topaloglu 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, Beroud C, Lochmuller 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, Barisic 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, Diaz-Manera J, Gallardo E, Karaduman AA, Topaloglu 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, Beroud C, Lochmuller 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.
Koeks Z, Bladen CL, Salgado D, van Zwet E, Pogoryelova O, McMacken G, Monges S, Foncuberta ME, Kekou K, Kosma K, Dawkins H, Lamont L, Bellgard MI, Roy AJ, Chamova T, Guergueltcheva V, Chan S, Korngut L, Campbell C, Dai Y, Wang J, Barisic N, Brabec P, Lahdetie J, Walter MC, Schreiber-Katz O, Karcagi V, Garami M, Herczegfalvi A, Viswanathan V, Bayat F, Buccella F, Ferlini A, Kimura E, van den Bergen JC, Rodrigues M, Roxburgh R, Lusakowska A, Kostera-Pruszczyk A, Santos R, Neagu E, Artemieva S, Rasic VM, Vojinovic D, Posada M, Bloetzer C, Klein A, Diaz-Manera J, Gallardo E, Karaduman AA, Oznur T, Topaloglu H, El Sherif R, Stringer A, Shatillo AV, Martin AS, Peay HL, Kirschner J, Flanigan KM, Straub V, Bushby K, Beroud C, Verschuuren JJ, Lochmuller H. Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database. J Neuromuscul Dis. 2017;4(4):293-306. doi: 10.3233/JND-170280.

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Responsible Party: The Duchenne Registry
ClinicalTrials.gov Identifier: NCT02069756    
Other Study ID Numbers: DC-PPMD-2013
First Posted: February 24, 2014    Key Record Dates
Last Update Posted: May 4, 2022
Last Verified: May 2022
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Yes
Plan Description: De-identified data is shared with researchers upon request and after careful review of application.

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by The Duchenne Registry:
Duchenne
Becker
Muscular Dystrophy
Additional relevant MeSH terms:
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Muscular Dystrophies
Muscular Dystrophy, Duchenne
Muscular Disorders, Atrophic
Muscular Diseases
Musculoskeletal Diseases
 Neuromuscular Diseases
Nervous System Diseases
Genetic Diseases, Inborn
Genetic Diseases, X-Linked