Impact of Newborn Screening for Duchenne Muscular Dystrophy: A Model-Based Analysis
Author(s)
Hadley S. Smith, PhD, MPSA1, Madison R. Hickingbotham, MS1, Sarah Stein, PhD1, Ellen Kim DeLuca, PhD1, Davene R. Wright, BS, PhD1, Marcus W. Henry, MPH1, Caitlyn Limanto, BS1, Partha Ghosh, MD2, Niki Armstrong, MS3, Rachel Schrader, MS4, Jennifer M. Yeh, PhD2, Ann C. Wu, MD, MPH1, Kurt D. Christensen, PhD1;
1Harvard Pilgrim Health Care Institute, Boston, MA, USA, 2Boston Children's Hospital, Boston, MA, USA, 3Foundation for Angelman Syndrome Therapeutics, Austin, TX, USA, 4Parent Project Muscular Dystrophy, Washington, DC, DC, USA
1Harvard Pilgrim Health Care Institute, Boston, MA, USA, 2Boston Children's Hospital, Boston, MA, USA, 3Foundation for Angelman Syndrome Therapeutics, Austin, TX, USA, 4Parent Project Muscular Dystrophy, Washington, DC, DC, USA
Presentation Documents
OBJECTIVES: We estimated the health and economic impact of US population-based newborn screening for Duchenne muscular dystrophy (DMD), an X-linked genetic neuromuscular disorder.
METHODS: We developed a microsimulation model to evaluate lifetime health and economic outcomes from a healthcare sector perspective of detecting DMD through: 1) newborn screening using biochemical testing (creatine kinase, CK-MM); 2) newborn screening using genetic testing (DMD gene); 3) usual clinical care. We adapted a five-state partitioned survival model of disease progression (early ambulatory, late ambulatory, early non-ambulatory, late non-ambulatory, dead) and assumed steroid treatment would start at age 2 years. We conducted scenario analyses for two types of novel therapeutics, antisense oligonucleotides (ASOs) and gene therapy.
RESULTS: Among a US birth cohort of 1.85 million male newborns, screening via CK testing is estimated to increase the number of patients in ambulatory disease stages at age 12 years by 8.9% (n=288) and increase the number of patients who live past age 20 years by 4.4% (n=294) compared to usual care. Newborn screening via genetic testing would increase the number of patients who are ambulatory at age 12 by an additional 1.9% and who live past age 20 by an additional 0.7%. Assuming a 29-month benefit, ASO treatment after CK screening would increase the number of patients who are ambulatory at age 12 by an estimated 13.9% and who are alive at age 20 by 7.3%. Assuming a 12-month benefit, gene therapy after CK screening would increase the number of patients who are ambulatory at age 12 by an estimated 16.9% and who are alive at age 20 by 8.5%. Newborn screening via CK testing and genetic testing would cost an estimated $392,061 and $447,170 per life year gained, respectively.
CONCLUSIONS: Newborn screening for DMD may shorten diagnostic delay and facilitate timely treatment, thereby delaying disease progression.
METHODS: We developed a microsimulation model to evaluate lifetime health and economic outcomes from a healthcare sector perspective of detecting DMD through: 1) newborn screening using biochemical testing (creatine kinase, CK-MM); 2) newborn screening using genetic testing (DMD gene); 3) usual clinical care. We adapted a five-state partitioned survival model of disease progression (early ambulatory, late ambulatory, early non-ambulatory, late non-ambulatory, dead) and assumed steroid treatment would start at age 2 years. We conducted scenario analyses for two types of novel therapeutics, antisense oligonucleotides (ASOs) and gene therapy.
RESULTS: Among a US birth cohort of 1.85 million male newborns, screening via CK testing is estimated to increase the number of patients in ambulatory disease stages at age 12 years by 8.9% (n=288) and increase the number of patients who live past age 20 years by 4.4% (n=294) compared to usual care. Newborn screening via genetic testing would increase the number of patients who are ambulatory at age 12 by an additional 1.9% and who live past age 20 by an additional 0.7%. Assuming a 29-month benefit, ASO treatment after CK screening would increase the number of patients who are ambulatory at age 12 by an estimated 13.9% and who are alive at age 20 by 7.3%. Assuming a 12-month benefit, gene therapy after CK screening would increase the number of patients who are ambulatory at age 12 by an estimated 16.9% and who are alive at age 20 by 8.5%. Newborn screening via CK testing and genetic testing would cost an estimated $392,061 and $447,170 per life year gained, respectively.
CONCLUSIONS: Newborn screening for DMD may shorten diagnostic delay and facilitate timely treatment, thereby delaying disease progression.
Conference/Value in Health Info
2025-05, ISPOR 2025, Montréal, Quebec, CA
Value in Health, Volume 28, Issue S1
Code
EE460
Topic
Economic Evaluation
Disease
SDC: Rare & Orphan Diseases, STA: Genetic, Regenerative & Curative Therapies