Modeling disease trajectory in Duchenne muscular dystrophy.

Abstract:

OBJECTIVE:To quantify disease progression in individuals with Duchenne muscular dystrophy (DMD) using magnetic resonance biomarkers of leg muscles. METHODS:MRI and magnetic resonance spectroscopy (MRS) biomarkers were acquired from 104 participants with DMD and 51 healthy controls using a prospective observational study design with patients with DMD followed up yearly for up to 6 years. Fat fractions (FFs) in vastus lateralis and soleus muscles were determined with 1H MRS. MRI quantitative T2 (qT2) values were measured for 3 muscles of the upper leg and 5 muscles of the lower leg. Longitudinal changes in biomarkers were modeled with a cumulative distribution function using a nonlinear mixed-effects approach. RESULTS:MRS FF and MRI qT2 increased with DMD disease duration, with the progression time constants differing markedly between individuals and across muscles. The average age at half-maximal muscle involvement (μ) occurred 4.8 years earlier in vastus lateralis than soleus, and these measures were strongly associated with loss-of-ambulation age. Corticosteroid treatment was found to delay μ by 2.5 years on average across muscles, although there were marked differences between muscles with more slowly progressing muscles showing larger delay. CONCLUSIONS:MRS FF and MRI qT2 provide sensitive noninvasive measures of DMD progression. Modeling changes in these biomarkers across multiple muscles can be used to detect and monitor the therapeutic effects of corticosteroids on disease progression and to provide prognostic information on functional outcomes. This modeling approach provides a method to transform these MRI biomarkers into well-understood metrics, allowing concise summaries of DMD disease progression at individual and population levels. CLINICALTRIALSGOV IDENTIFIER:NCT01484678.

journal_name

Neurology

journal_title

Neurology

authors

Rooney WD,Berlow YA,Triplett WT,Forbes SC,Willcocks RJ,Wang DJ,Arpan I,Arora H,Senesac C,Lott DJ,Tennekoon G,Finkel R,Russman BS,Finanger EL,Chakraborty S,O'Brien E,Moloney B,Barnard A,Sweeney HL,Daniels MJ,Walter

doi

10.1212/WNL.0000000000009244

subject

Has Abstract

pub_date

2020-04-14 00:00:00

pages

e1622-e1633

issue

15

eissn

0028-3878

issn

1526-632X

pii

WNL.0000000000009244

journal_volume

94

pub_type

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