A Study of Deflazacort (Emflaza®) in Participants With Limb-Girdle Muscular Dystrophy 2I (LGMD2I)

NCT03783923 | Terminated Phase 3 Results FDA Drug

• 1 other identifier: PTCEMF-GD-004
• Study Type: interventional
• Target: 11
• Locations: 8 countries
• Sites: 18

Brief Summary

This study is designed to evaluate the safety and efficacy of deflazacort in participants with LGMD2I. Most participants enrolled will have a screening visit and 3 additional visits (after 1, 13, and 26 weeks of treatment).

Conditions

Limb-Girdle Muscular Dystrophy

Outcome Measures

Primary Outcomes (1)

• Change From Baseline in Time to Climb 4 Stairs After 26 Weeks of Treatment With Deflazacort

  Baseline, Week 26

Secondary Outcomes (14)

• Change From Baseline in Forced Vital Capacity (FVC) After 26 Weeks of Treatment With Deflazacort

  Baseline, Week 26

• Change From Baseline in 2-Minute Walk Test After 26 Weeks of Treatment of Deflazacort

  Baseline, Week 26

• Change From Baseline in Time to up and go After 26 Weeks of Treatment With Deflazacort

  Baseline, Week 26

• Change From Baseline in Time to Descend 4 Stairs After 26 Weeks of Treatment With Deflazacort

  Baseline, Week 26

• Change From Baseline in Time to Run/Walk 10 Meters After 26 Weeks of Treatment With Deflazacort

  Baseline, Week 26

Study Arms (1)

Deflazacort

EXPERIMENTAL

Participants will receive deflazacort 0.6 milligrams per kilograms per day (mg/kg/day) orally. The dose could be reduced in case of tolerability issues. Any participant assigned to placebo prior to the Version 4.0 amendment (prior to or after 01 February 2020) will have the option to be consented under Version 4.0 and will be switched to deflazacort for 26 weeks treatment. Any participant assigned to deflazacort prior to the Version 4.0 amendment (prior to 01 February 2020) will have the option to re-consent under Protocol Version 4.0 and continue for an additional 26 weeks treatment. Any participant assigned to deflazacort prior to the Version 4.0 amendment (after 01 February 2020) will have the option to re-consent under Protocol Version 4.0 at their Week 13 Visit and continue treatment until Week 26. Any new participant enrolled until 31 May 2020 will receive deflazacort for 26 weeks.

Drug: Deflazacort

Interventions

Deflazacort DRUG

Deflazacort tablet will be administered as per the dose and schedule specified in the arm.

Also known as: Emflaza®

Deflazacort

Eligibility Criteria

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

You may qualify if:

• Genetic diagnosis of LGMD2I (confirmed mutation in the fukutin-related protein \[FKRP\] gene).
• Ability to ascend 4 stairs greater than or equal to (≥) 2.5 seconds and be able to complete the ascent and descent both at screening and baseline.
• Ability to understand the nature of the study and the consent form and to comply with study related procedures.
• Must weigh between 35 to 112.5 kilograms (kg).

You may not qualify if:

• Received ≥4 weeks of continuous, systemic corticosteroid therapy within 3 months of study screening visit.
• Presence of significant cardiomyopathy as defined by echocardiogram (left ventricular ejection fraction less than (\<) 30 percent \[%\]) at screening.
• Requires fulltime ventilator support.
• History of chronic systemic fungal or viral infections.
• History of recent bacterial infection (including tuberculosis) per discretion of the Investigator.
• Diagnosis of diabetes mellitus (controlled and/or uncontrolled) defined as glycated hemoglobin (HbA1c) ≥6.5% (based on historical or present diagnosis).
• History of immunosuppression or other contraindications to glucocorticosteroid therapy.
• Requires concomitant use or greater than (\>) 1 week of drugs or substances that are moderate to strong cytochrome P3A4 (CYP3A4) inhibitors (for example, clarithromycin, fluconazole, diltiazem, verapamil, grapefruit juice) or moderate or strong CYP3A4 inducers (that is, rifampin, efavirenz, carbamazepine, phenytoin) at baseline.
• Participated in an interventional clinical trial within the last 3 months prior the baseline visit.
• Unable or unwilling to comply with the contraceptive requirements of the protocol.
• Female participants who are pregnant and/or breastfeeding.
• Evidence or history of clinically significant hematological, renal, endocrine, pulmonary, gastrointestinal, cardiovascular, hepatic, neurologic, psychiatric, or allergic disease.

Sponsors & Collaborators

• PTC Therapeutics: lead

Study Sites (18)

Rare Disease Research, LLC

Atlanta, Georgia, 30324, United States

Location

University of Iowa Hospitals and Clinics

Iowa City, Iowa, 52242, United States

Location

The University of Kansas Medical Center

Kansas City, Kansas, 66160, United States

Location

Hugo W Moser Research Institute at Kennedy Krieger Institute

Baltimore, Maryland, 21205, United States

Location

University of Minnesota

Minneapolis, Minnesota, 55455, United States

Location

Washington University School of Medicine

St Louis, Missouri, 63110, United States

Location

University of Pennsylvania

Philadelphia, Pennsylvania, 19104, United States

Location

University of Washington

Seattle, Washington, 98195, United States

Location

University of Alberta

Edmonton, Alberta, T6G 2G3, Canada

Location

Ottawa Hospital

Ottawa, K1Y 4E9, Canada

Location

Rigshospitalet, University of Copenhagen

Copenhagen, 2200, Denmark

Location

CHRU de NANCY Service de Neurologie

France, 54035, France

Location

University Hospital La Timone

Marseille, 13385, France

Location

Ludwig-Maximilians University Munich, Friedrich-Baur-Institute

Munich, 80801, Germany

Location

Oslo University Hospital

Oslo, 0424, Norway

Location

Pirogov Russian National Research Medical University

Moscow, 125412, Russia

Location

Saint-Petersburg State Pediatric Medical University

Saint Petersburg, 194100, Russia

Location

Sahlgrenska University Hospital

Gothenburg, 41345, Sweden

Location

MeSH Terms

Conditions

Muscular Dystrophies, Limb-Girdle

Interventions

deflazacort

Condition Hierarchy (Ancestors)

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

Limitations and Caveats

The study was terminated early due to low enrollment and missing efficacy assessment data due to missed visits related to COVID-19.

Results Point of Contact

• Title: Medical Information
• Organization: PTC Therapeutics, Inc.

medinfo@ptcbio.com

1-866-562-4620

Study Officials

• Cristobal Passalacqua, MD

  PTC Therapeutics

  STUDY DIRECTOR

Publication Agreements

• PI is Sponsor Employee: No
• Restriction Type: OTHER
• Restrictive Agreement: Yes

Study Design

• Study Type: interventional
• Phase: phase 3
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 19, 2018
• First Posted: December 21, 2018
• Study Start: October 31, 2019
• Primary Completion: January 1, 2021
• Study Completion: January 1, 2021
• Last Updated: June 27, 2022
• Results First Posted: June 27, 2022

Record last verified: 2022-05

Locations

SE (1); RU (2); US (8); NO (1); DK (1); FR (2); DE (1); CA (2)