The Duchenne Registry

Duchenne Muscular Dystrophy Clinical Trial

Official title:

The Duchenne Registry: An International, Patient-Report Registry for Individuals With Duchenne and Becker Muscular Dystrophy (Member of TREAT-NMD Neuromuscular Network)

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT02069756
• Other study ID #: DC-PPMD-2013
• Status: Recruiting
• Start date: October 2007
• Est. completion date: October 2047

Study information

• Verified date: September 2023
• Source: The Duchenne Registry
• Contact: Ann Martin, MS, CGC
• Phone: 888-520-8675
• Email: coordinator[@]duchenneregistry.org
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

Clinical Trial 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 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.

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 10000
• Est. completion date: October 2047
• Est. primary completion date: October 2027
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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).

Related Conditions & MeSH terms

• Becker Muscular Dystrophy
• Duchenne Muscular Dystrophy
• Muscular Dystrophies
• Muscular Dystrophy, Duchenne

Locations

Country	Name	City	State
United States	The Duchenne Registry / PPMD	Washington	District of Columbia

Sponsors (2)

Lead Sponsor	Collaborator
The Duchenne Registry	Parent Project Muscular Dystrophy

Country where clinical trial is conducted

United States, 

References & Publications (10)

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 — View Citation

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, Vis — View Citation

Counterman KJ, Fatovic K, Good DC, Martin AS, Dasgupta S, Anziska Y. Associations Between Self-Reported Behavioral and Learning Concerns and DMD Isoforms in Duchenne Muscular Dystrophy. J Neuromuscul Dis. 2022;9(6):757-764. doi: 10.3233/JND-220821. — View Citation

Counterman KJ, Furlong P, Wang RT, Martin AS. Delays in diagnosis of Duchenne muscular dystrophy: An evaluation of genotypic and sociodemographic factors. Muscle Nerve. 2020 Jan;61(1):36-43. doi: 10.1002/mus.26720. Epub 2019 Nov 6. — View Citation

Cowen L, Mancini M, Martin A, Lucas A, Donovan JM. Variability and trends in corticosteroid use by male United States participants with Duchenne muscular dystrophy in the Duchenne Registry. BMC Neurol. 2019 May 2;19(1):84. doi: 10.1186/s12883-019-1304-8. — View Citation

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, Lahd — View Citation

Rangel V, Martin AS, Peay HL. DuchenneConnect Registry Report. PLoS Curr. 2012 Feb 29;4:RRN1309. doi: 10.1371/currents.RRN1309. — View Citation

Waldrop MA, Yaou RB, Lucas KK, Martin AS, O'Rourke E; FILNEMUS; Ferlini A, Muntoni F, Leturcq F, Tuffery-Giraud S, Weiss RB, Flanigan KM. Clinical Phenotypes of DMD Exon 51 Skip Equivalent Deletions: A Systematic Review. J Neuromuscul Dis. 2020;7(3):217-2 — View Citation

Wang RT, Barthelemy F, Martin AS, Douine ED, Eskin A, Lucas A, Lavigne J, Peay H, Khanlou N, Sweeney L, Cantor RM, Miceli MC, Nelson SF. DMD genotype correlations from the Duchenne Registry: Endogenous exon skipping is a factor in prolonged ambulation for — View Citation

Wang RT, Silverstein Fadlon CA, Ulm JW, Jankovic I, Eskin A, Lu A, Rangel Miller V, Cantor RM, Li N, Elashoff R, Martin AS, Peay HL, Halnon N, Nelson SF. Online self-report data for duchenne muscular dystrophy confirms natural history and can be used to a — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Other	Corticosteroid use	Data collected includes whether or not corticosteroids are used, and if so, name of corticosteroid, age started/stopped, dose and dosing regimen.	Registrants are requested to update their medical history every 6-12 months, and they will be followed throughout their lifetime.
Other	Cardiovascular status	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.	Registrants are requested to update their medical history every 6-12 months, and they will be followed throughout their lifetime.
Other	Respiratory status	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).	Registrants are requested to update their medical history every 6-12 months, and they will be followed throughout their lifetime.
Primary	Genetic variant	Genetic variant 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.	Registrants are requested to update their medical history every 6-12 months, and they will be followed throughout their lifetime.
Secondary	Ambulation status	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.	Registrants are requested to update their medical history every 6-12 months, and they will be followed throughout their lifetime.

External Links

•   Parent Project Muscular Dystrophy
•   The Duchenne Registry
•   TREAT-NMD Neuromuscular Network