Investigating Exercise in Myotonic Dystrophy Type 2 (DM2) (DM2)

Investigating Benefits of A Physical Therapist (PT)-Guided Exercise Program in Myotonic Dystrophy Type 2 (DM2)

An exercise regimen (PRIME: Proximal Resistance In-House Movement Exercise) has been designed for patients with myotonic dystrophy type 2 (DM2). The hypothesis is that this patient-friendly physical therapist (PT)-guided exercise program associates with improved functional capacity and muscle composition in DM2 in this two-period two-sequence cross-over study. Thus, participant will be randomized to one of the three possible groups. Participants in GROUP A will perform exercise routine virtually under the direct supervision of a physical therapist once a week and another session on their own for the first three months, then they will continue with same exercise routine at home for the last 3 months on their own. Participants in GROUP B will perform exercise routine virtually under the direct supervision of a physical therapist twice a week for the first three months, then they will continue with same exercise routine at home for the last 3 months on their own. Participants in GROUP C will perform exercise routine on their own during the first 3 months, then they will perform exercise routine virtually under the direct supervision of a physical therapist. Each group will include around 8 participants. Duration of the study is 6 months. In addition to exercise sessions, participants will have evaluation of their strength, motor function and muscle composition at three time points: initiation, 3 months and completion of the study at 6 months. Muscle composition will be assessed by electrical impedance myography which is a portable, non-invasive, painless and non-radiation tool that applies a weak high multifrequency electrical current to the examined muscle and allows to obtain information about its composition.

Study Overview

• Status: Recruiting
• Conditions: Myotonic Dystrophy 2
• Intervention / Treatment: Other: Exercise; Other: Exercise; Other: Exercise

• Study Type: Interventional
• Enrollment (Estimated): 24
• Phase: Not Applicable

Contacts and Locations

• Study Contact: Name: Zoe Sheitman, DPT; Phone Number: 617-726-3642; Email: zsheitman@mgh.harvard.edu

Study Locations

• United States
  • Massachusetts
    • Boston, Massachusetts, United States, 02114
      • Recruiting
      • Neuromuscular Diagnostic Center. Massachusetts General Hospital
      • Contact: Zoe Sheitman, DPT; Phone Number: 617-724-5297; Email: zsheitman@mgh.harvard.edu

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult; Older Adult
• Accepts Healthy Volunteers: No

Description

Inclusion Criteria:

• Patients with genetically confirmed myotonic dystrophy 2 (DM2) who are ≥18 and ≤ 70 years old.
• Patients are ambulatory without need of any assistance or device.
• Patients have a normal ECG within the 3 months prior to Screening visit (of note, patients with DM2 are recommended to have routine ECG as part of patient care. So, this ECG will be done as part of patient care).
• Body mass index (BMI) ≥20 and ≤30.

Exclusion Criteria:

• Subjects younger than 18 years old or older than 70 years old.
• Inability or unwillingness of the subject to give written informed consent.
• Subjects with pacemaker.
• Blood pressure <90/50 mmHg or >160 mmHg/90 mmHg at Screening visit
• Resting heart rate of <60 or >100 beats/minute at Screening visit.
• Any fall within the last six months.
• Any history of syncopal episodes or family history of sudden death.
• Patients who are pregnant or plan to become pregnant. A urine pregnancy test will be performed at visit 1 and 3 for women of childbearing age. If positive or if subject is planning to become pregnant, subject will be not eligible for the study.

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Treatment
• Allocation: Randomized
• Interventional Model: Crossover Assignment
• Masking: None (Open Label)

Number of Arms

3

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Active Comparator: Group A; Exercise under the supervision of physical therapist in clinic during the first 3 months, then self-directed exercise routine for the last 3 months	Other: Exercise; A patient-friendly exercise routine has been designed for patients with myotonic dystrophy type 2. Benefits of this exercise regimen in different settings (at home versus clinic, self-directed versus physical therapist-directed) will be investigated. In person exercise supervised by physical therapist and then self-directed exercise in Group A; Other: Exercise; Exercise virtually supervised by physical therapist and then self-directed for group B; Other: Exercise; Self-directed and virtually supervised exercise by physical therapist for Group C
Active Comparator: Group B; Exercise under the supervision of physical therapist virtually during the first 3 months, then self-directed exercise routine for the last 3 months	Other: Exercise; A patient-friendly exercise routine has been designed for patients with myotonic dystrophy type 2. Benefits of this exercise regimen in different settings (at home versus clinic, self-directed versus physical therapist-directed) will be investigated. In person exercise supervised by physical therapist and then self-directed exercise in Group A; Other: Exercise; Exercise virtually supervised by physical therapist and then self-directed for group B; Other: Exercise; Self-directed and virtually supervised exercise by physical therapist for Group C
Active Comparator: Group C; Self-directed exercise routine for the first 3 months, then exercise routine under the supervision of physical therapist virtually during the last 3 months	Other: Exercise; A patient-friendly exercise routine has been designed for patients with myotonic dystrophy type 2. Benefits of this exercise regimen in different settings (at home versus clinic, self-directed versus physical therapist-directed) will be investigated. In person exercise supervised by physical therapist and then self-directed exercise in Group A; Other: Exercise; Exercise virtually supervised by physical therapist and then self-directed for group B; Other: Exercise; Self-directed and virtually supervised exercise by physical therapist for Group C

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Manual Muscle Test (MMT)	Score of manual muscle strength test scale. This is a strength exam at bedside of muscle groups	From enrollment to the end of treatment at 6 months
Six-minute walking test	Distance in meters that subject can walk in six minutes	From enrollment to the end of treatment at 6 months

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Quantitative myometry	Muscle dynamometry of different muscle groups measured in kilograms	From enrollment to the end of treatment at 6 months
Muscle resistance/reactance measures in ohms	using electrical impedance myography, resistance and reactance measures in ohms will be obtained simultaneously from each examined muscle	From enrollment to the end of treatment at 6 months

Other Outcome Measures

Outcome Measure	Measure Description	Time Frame
Time up to go	Time in seconds from standing up, walk 3 meters, come back and sit again.	From enrollment to the end of treatment at 6 months
10 meter walk testing	Time in seconds during a 10-meter walk.	From enrollment to the end of treatment at 6 months
Five times sit to stand	Time in seconds to complete 5 times sit to stand.	From enrollment to the end of treatment at 6 months
Functional gait assessment (FGA)	Assessment of balance using a scale (0-30) while walking and performing motor tasks.	From enrollment to the end of treatment at 6 months

Collaborators and Investigators

• Sponsor: Massachusetts General Hospital

Study record dates

Study Major Dates

• Study Start (Actual): March 4, 2025
• Primary Completion (Estimated): December 1, 2027
• Study Completion (Estimated): March 1, 2028

Study Registration Dates

• First Submitted: October 30, 2024
• First Submitted That Met QC Criteria: December 3, 2024
• First Posted (Actual): December 4, 2024

Study Record Updates

• Last Update Posted (Actual): April 15, 2026
• Last Update Submitted That Met QC Criteria: April 10, 2026
• Last Verified: April 1, 2026

More Information

Terms related to this study

• Keywords: exercise; myotonic dystrophy type 2; electrical impedance myography; physical therapist
• Additional Relevant MeSH Terms: Musculoskeletal Diseases; Nervous System Diseases; Muscular Diseases; Neuromuscular Diseases; Genetic Diseases, Inborn; Neurodegenerative Diseases; Heredodegenerative Disorders, Nervous System; Muscular Disorders, Atrophic; Muscular Dystrophies; Myotonic Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Behavior; Myotonic Dystrophy; Motor Activity; Motor Activity; Movement; Musculoskeletal Physiological Phenomena; Musculoskeletal and Neural Physiological Phenomena; Exercise
• Other Study ID Numbers: PGP-ZS

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: UNDECIDED

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No