Table 1:

Most Highly Cited Observational Studies in DMD that Include Race/Demographics (2009–2019)

Article	Study Type	Cohort	Study Description and Outcomes
ImagingDMD NCT01484678	NH	Primarily nationally recruited cohort of boys and adolescents with DMD. Participants were compensated $20.	Natural history study of muscle magnetic resonance biomarkers.
Arias 2011(12)	SU	Caregivers recruited via neuromuscular clinics in the MD STARnet network and MDA/PPMD announcements. Participants were compensated $20.	Survey study of palliative care services utilized by individuals with DMD.
Bello 2015(13)	NH	Cooperative International Neuromuscular Research Group Duchenne Natural History Study cohort.	LTBP4 and SPP1 polymorphisms examined for differences in age at loss of ambulation.
Chung 2015(14)	QOL	Subset of individuals with DMD or BMD (born between 1986–1996) followed at Pittsburgh MDA clinics and their parents.	Survey assessments of quality of life and attitudes regarding newborn screening.
Davis 2010(15)	QOL	Recruited 8–18 year olds from the Neuromuscular Disease Clinic at Children’s Medical Center of Dallas.	Administered the PedsQL at baseline and 2–6 weeks later to determine feasibility, reliability, and validity.
Donders 2009(16)	NH	6–16 year olds with DMD recruited from a regional neuromuscular clinic and siblings were included if applicable. Participants were compensated $25.	Administered tests of neuropsychological function and behavior.
Fee 2011(17)	NH	Individuals with DMD recruited from four MDA clinics and information distributed by MDA.	Administered the Child Behavior Checklist as a proxy for resilience.
Hollin 2015(18)	PP	Caregivers were recruited through PPMD and DuchenneConnect.	Compared best-worst scaling assessment of benefit and risk preferences for therapies to conjoint analysis of therapy acceptance
Hollin 2017(19)	PP	Individuals with DMD, BMD, IMD, and caregivers recruited at the annual PPMD conference and through email to Duchenne Registry participants.	Best-worst scaling survey used to assess benefits, risks, and preferences for therapies for pulmonary health.
Mayer 2015(20)	NH	Individuals with DMD recruited from the neuromuscular clinic at the Children’s Hospital of Philadelphia.	Cross sectional study of pulmonary function in 5–24 year olds.
McDonald 2018 A(21)	NH	Cooperative International Neuromuscular Research Group Duchenne Natural History Study cohort.	Compared function, survival, and QOL in steroid treated and untreated individuals.
McDonald 2018 B(22)	NH	Cooperative International Neuromuscular Research Group Duchenne Natural History Study cohort.	Assessed pulmonary function over a period of up to 10 years.
Peay 2014(23)	PP	Caregivers were recruited using social media, newsletters, PPMD emails, and DuchenneConnect.	Best-worst scaling survey used to assess benefit and risk preferences for therapies.
Uzark 2012(24)	QOL	Recruited 6–18yos and their parents from the Comprehensive Neuromuscular Care Center at Cincinnati Children’s Hospital and the annual PPMD conference.	PedsQL assessed in 203 families.

NH = natural history, SU = service utilization, MDA = Muscular Dystrophy Association, PPMD = Parent Project Muscular Dystrophy, QOL = quality of life, BMD = Becker muscular dystrophy, PP = patient preference, IMD = intermediate muscular dystrophy