Clinical trial NCT05019625: Biomarker Development for Muscular Dystrophies
Official title: Biomarker Development for Muscular Dystrophies
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Myotonic Dystrophy
Duchenne Muscular Dystrophy
Becker Muscular Dystrophy
Facioscapulohumeral Muscular Dystrophy
Lead sponsor: Massachusetts General Hospital
Sponsor class: OTHER
Collaborators: name: Boston Children's Hospital
name: Wake Forest University
name: University of Pittsburgh
name: Brigham and Women's Hospital
First posted: 2021-08-25
Enrollment: 465
Sex: ALL
Minimum age (years): 5
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Males and females ages 5 years and older with myotonic dystrophy type 1 (DM1), myotonic dystrophy type 2 (DM2), Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and facioscapulohumeral muscular dystrophy (FSHD) confirmed by genetic testing or by clinical history and examination are invited to participate. In addition, male and female healthy volunteers ages 18 and older also are invited to participate.

Brief summary: Current methods of measuring the response to new treatments for muscular dystrophies involve the examination of small pieces of muscle tissue called biopsies. The investigators are interested in finding less invasive methods that reduce the need for muscle biopsies. The purpose of this research is to learn about the possibility of detecting and measuring the activity and severity of muscular dystrophies by examining a urine sample and a blood sample, and some muscles in the arms and legs using tests called ultrasound and electrical impedance myography; both tests are painless and non-invasive. The information that is gathered from this study may help to evaluate, prevent, diagnose, treat, and improve the understanding of human muscle diseases.


Eligibility criteria: Inclusion Criteria:

* Subjects with DM1 or DM2 based on genetic testing and/or clinical criteria (some subjects who have positive genetic testing may be asymptomatic, while other subjects who show characteristic clinical features may have declined to have genetic testing done). Control non-DM subjects are unknown to have DM or any other muscular dystrophy by history and may have had no genetic testing.
* Able to provide informed consent or assent for participation in the study.
* Demographic characteristics for single biofluid collection: Males and females age 5 years and older.
* Demographic characteristics for serial biofluid and muscle function testing: Males and females age 14 years and older with DM1.
* Demographic characteristics for biofluid and muscle biopsy: Males and females, ages 18-65 years.

Demographic characteristics for single biofluid collection, ultrasound, and myography: Males and females age 14 years and older.

Exclusion Criteria:

* Medical history of any of the following. State of immunosuppression; coagulopathy; pre-existing liver or kidney disease; documented HIV positive; documented hepatitis B and/or C positive.
* Medications and other drugs. Use of anti-platelet drugs within 7 days prior to blood draw or biopsy; use of anticoagulants within 60 days prior to blood draw or biopsy; active drug or alcohol use or dependence that, in the opinion of the biopsy surgeon, would interfere with post-procedure wound care.
* Other. Inability or unwillingness of the subject to give written informed consent.

Primary outcomes:
measure: Extracellular RNA in biofluids
timeFrame: 6 years
Secondary outcomes:
Other outcomes:
Locations:
city: Boston
country: United States
facility: Boston Children's Hospital
state: Massachusetts
city: Boston
country: United States
facility: Brigham and Women's Hospital
state: Massachusetts
city: Boston
country: United States
facility: Massachusetts General Hospital
state: Massachusetts
city: Winston-Salem
country: United States
facility: Wake Forest University
state: North Carolina
city: Pittsburgh
country: United States
facility: University of Pittsburgh
state: Pennsylvania
Study officials:
affiliation: Massachusetts General Hospital
name: Thurman M. Wheeler, MD
role: PRINCIPAL_INVESTIGATOR
References:
citation: Antoury L, Hu N, Balaj L, Das S, Georghiou S, Darras B, Clark T, Breakefield XO, Wheeler TM. Analysis of extracellular mRNA in human urine reveals splice variant biomarkers of muscular dystrophies. Nat Commun. 2018 Sep 25;9(1):3906. doi: 10.1038/s41467-018-06206-0.
citation: Antoury L, Hu N, Darras B, Wheeler TM. Urine mRNA to identify a novel pseudoexon causing dystrophinopathy. Ann Clin Transl Neurol. 2019 May 17;6(6):1106-1112. doi: 10.1002/acn3.777. eCollection 2019 Jun.