Evaluation of the Efficacy and Safety of Metformin in the Myotonic Dystrophy Type 1 (Steinert's Disease)

NCT05532813 | Recruiting Phase 3

• 2 other identifiers: APHP2208322023-507660-39-00
• Study Type: interventional
• Target: 142
• Locations: 1 country
• Sites: 1

Brief Summary

The study team hypothesize that non-diabetic patients with Myotonic dystrophy type I (DM1) will improve their symptoms, especially their motor deficit which is the main feature of the disease, because of the splicing defect correction by metformin. The primary objective of the study is to evaluate the efficacy of metformin vs placebo, on the improvement of muscle function in patients with DM1 compared to its placebo. As the secondary objectives, the study aims:

• To evaluate the safety of metformin on patient with DM1.
• To evaluate the efficacy of metformin vs placebo on:
• The hand-grip strength;
• The thumb-index pinch strength;
• The locomotor function;
• The respiratory function;
• The cardiac function;
• The quality of life;
• The daily and social activity.

Conditions

Steinert's Disease; Myotonic Dystrophy 1; Metformin

Keywords

Steinert's Disease; Myotonic Dystrophy 1; Metformin; Muscle function

Outcome Measures

Primary Outcomes (1)

• Change of muscle function

  By MFM (Motor Function Measure) scale. The MFM-32 is a widely used sensitive and reliable quantitative functional motor scale, validated for use in various neuromuscular disorders (Bérard et al. 2005) and presenting the advantage to measure precisely, not only the muscle strength but motor function which is the main concern for DM1 patients.

  at baseline and 12 months

Secondary Outcomes (9)

• Safety endpoint

  through study completion, an average of 30 month

• Change of muscle function between baseline and 6 months

  at baseline and 6 months

• The hand-grip strength

  baseline, 6 and 12 months

• The thumb-index pinch strength

  baseline, 6 and 12 months

• The locomotor function

  baseline, 6 and 12 months

Study Arms (2)

Metformin arm

EXPERIMENTAL

Patients randomized in Metformin arm will take metformin orally.

Drug: Treatment taken

Placebo receivers

PLACEBO COMPARATOR

Patients randomized in placebo arm will take placebo orally in the same procedure as metformin taken.

Drug: Treatment taken

Interventions

Treatment taken DRUG

Treatment (Metformin or placebo) will be administered orally and titrated following the same guideline that metformin in diabetic patient: start with a daily dose of 500 mg twice a day, given during or after meals; then increase to 1000 mg twice a day after a week. If digestive tolerance is good, treatment will be increased to a maximum of 1000 mg three times a day i.e. 3000 mg/day after another week.

Metformin arm; Placebo receivers

Eligibility Criteria

• Age: 18 Years - 70 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• DM1 disease confirmed by genetic analysis
• Men and women between 18 and 70 years of age.
• Preserved walking abilities (stick assistance possible)
• MIRS score 3 or 4
• Women of childbearing potential under efficient contraception during treatment
• Patient able to consent
• All patients who have completed and signed the specific information and informed consent form
• Affiliation to a social security system

You may not qualify if:

• Pregnant or breast-feeding women
• Men with an intention to conceive a child during the time of the study
• Contraindications to Metformin (hypersensitivity to metformin or to one of the excipients)
• Respiratory:
• Patient requiring tracheotomy or
• Patient requiring non-invasive-ventilation: - more than 12 hours per day; - insufficiently ventilated
• Creatinine clearance inferior to 50 ml/min
• Cardiac:
• Left ventricular ejection fraction below 35%
• Conduction system disease on the electrocardiogram with PR interval \>200 ms or QRS duration \>110 ms without a pacemaker or an implantable defibrillator or cardiac electrophysiological study performed over the past 5 years
• Third-degree or Second degree type II atrioventricular block without a pacemaker or an implantable defibrillator
• Sustained ventricular tachycardia
• Acute disease that may lead to tissue hypoxia

Sponsors & Collaborators

• Assistance Publique - Hôpitaux de Paris: lead

Study Sites (1)

Neurology Department, Raymond-Poincaré hospital - APHP

Garches, 92380, France

RECRUITING

Related Publications (2)

• Berard C, Payan C, Hodgkinson I, Fermanian J; MFM Collaborative Study Group. A motor function measure for neuromuscular diseases. Construction and validation study. Neuromuscul Disord. 2005 Jul;15(7):463-70. doi: 10.1016/j.nmd.2005.03.004.

  PMID: 16106528 BACKGROUND

• Landfeldt E, Nikolenko N, Jimenez-Moreno C, Cumming S, Monckton DG, Faber CG, Merkies ISJ, Gorman G, Turner C, Lochmuller H. Change over time in ability to perform activities of daily living in myotonic dystrophy type 1. J Neurol. 2020 Nov;267(11):3235-3242. doi: 10.1007/s00415-020-09970-6. Epub 2020 Jun 15.

  PMID: 32542526 BACKGROUND

MeSH Terms

Conditions

Myotonic Dystrophy

Condition Hierarchy (Ancestors)

Muscular Dystrophies; Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Myotonic Disorders; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Nervous System Diseases; Neuromuscular Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Pascal LAFORÊT, MD, PhD

  Neurology Department, Raymond Poincaré Hospital, APHP

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Pascal LAFORÊT, MD, PhD

CONTACT

+33 (0)1 47 10 77 36; pascal.laforet@aphp.fr

Study Design

• Study Type: interventional
• Phase: phase 3
• Allocation: RANDOMIZED
• Masking: TRIPLE
• Who Masked: PARTICIPANT, CARE PROVIDER, INVESTIGATOR
• Purpose: TREATMENT
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 6, 2022
• First Posted: September 8, 2022
• Study Start: November 29, 2024
• Primary Completion (Estimated): November 1, 2026
• Study Completion (Estimated): December 1, 2026
• Last Updated: November 24, 2025

Record last verified: 2025-11

Locations

FR (1)