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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT03783923
Recruitment Status : Terminated (The study was terminated early due to low enrollment and missing efficacy assessment data due to missed visits related to COVID-19.)
First Posted : December 21, 2018
Results First Posted : June 27, 2022
Last Update Posted : June 27, 2022
Sponsor:
Information provided by (Responsible Party):
PTC Therapeutics

Study Description
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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).

Condition or disease Intervention/treatment Phase
Limb-Girdle Muscular Dystrophy Drug: Deflazacort Phase 3

Study Design
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Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 11 participants
Allocation: N/A
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
Official Title: A Multicenter Open-Label Study on the Safety and Efficacy of Deflazacort (Emflaza) in Subjects With Limb-Girdle Muscular Dystrophy 2I (LGMD2I)
Actual Study Start Date : October 31, 2019
Actual Primary Completion Date : January 1, 2021
Actual Study Completion Date : January 1, 2021

Resource links provided by the National Library of Medicine

Drug Information available for: Deflazacort

Arms and Interventions
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Arm Intervention/treatment
Experimental: Deflazacort
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
Deflazacort tablet will be administered as per the dose and schedule specified in the arm.
Other Name: Emflaza®


Outcome Measures
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Primary Outcome Measures :
  1. Change From Baseline in Time to Climb 4 Stairs After 26 Weeks of Treatment With Deflazacort [ Time Frame: Baseline, Week 26 ]

Secondary Outcome Measures :
  1. Change From Baseline in Forced Vital Capacity (FVC) After 26 Weeks of Treatment With Deflazacort [ Time Frame: Baseline, Week 26 ]
  2. Change From Baseline in 2-Minute Walk Test After 26 Weeks of Treatment of Deflazacort [ Time Frame: Baseline, Week 26 ]
  3. Change From Baseline in Time to up and go After 26 Weeks of Treatment With Deflazacort [ Time Frame: Baseline, Week 26 ]
  4. Change From Baseline in Time to Descend 4 Stairs After 26 Weeks of Treatment With Deflazacort [ Time Frame: Baseline, Week 26 ]
  5. Change From Baseline in Time to Run/Walk 10 Meters After 26 Weeks of Treatment With Deflazacort [ Time Frame: Baseline, Week 26 ]
  6. Change From Baseline in Maximal Inspiratory Pressure (MIP) and Maximal Expiratory Pressure (MEP) After 26 Weeks of Treatment With Deflazacort [ Time Frame: Baseline, Week 26 ]
  7. Change From Baseline in Hand-Held Myometry After 26 Weeks of Treatment With Deflazacort [ Time Frame: Baseline, Week 26 ]
  8. Change From Baseline in Global T2 Relaxation Time of Selected Upper and Lower Limb Muscles After 26 Weeks of Treatment With Deflazacort [ Time Frame: Baseline, Week 26 ]
  9. Number of Participants With Adverse Events (AEs) [ Time Frame: Baseline up to Week 52 ]
    An AE was any untoward medical occurrence in a participant who received study drug without regard to possibility of causal relationship. Serious adverse event (SAE) was an AE resulting in any of the following outcomes or deemed significant for any other reason: death; initial or prolonged inpatient hospitalization; life-threatening experience (immediate risk of dying); persistent or significant disability/incapacity; congenital anomaly. AEs included both SAEs and non-serious AEs. A summary of other non-serious AEs and all SAEs, regardless of causality is located in the 'Reported AE section'. AEs were summarized separately for Stage 1 and for the overall ataluren experience.

  10. Area Under the Concentration Curve From Time Zero to t (AUC0-t) of 21-desacetyl Deflazacort and 6β-hydroxy-21-desacetyl Deflazacort [ Time Frame: Pre-dose, 0.5, 1, 2, 4, and 6 hours post-dose at Baseline and Week 13 ]
  11. Area Under the Concentration Curve From Time Zero to Infinity (AUC0-inf) of 21-desacetyl Deflazacort and 6β-hydroxy-21-desacetyl Deflazacort [ Time Frame: Pre-dose, 0.5, 1, 2, 4, and 6 hours post-dose at Baseline and Week 13 ]
  12. Maximum Observed Plasma Concentration (Cmax) of 21-desacetyl Deflazacort and 6β-hydroxy-21-desacetyl Deflazacort [ Time Frame: Pre-dose, 0.5, 1, 2, 4, and 6 hours post-dose at Baseline and Week 13 ]
  13. Time to Reach Cmax (Tmax) of 21-desacetyl Deflazacort and 6β-hydroxy-21-desacetyl Deflazacort [ Time Frame: Pre-dose, 0.5, 1, 2, 4, and 6 hours post-dose at Baseline and Week 13 ]
  14. Half-Life (t1/2) of 21-desacetyl Deflazacort and 6β-hydroxy-21-desacetyl Deflazacort [ Time Frame: Pre-dose, 0.5, 1, 2, 4, and 6 hours post-dose at Baseline and Week 13 ]

Eligibility Criteria
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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Criteria

Inclusion Criteria:

  • 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).

Exclusion Criteria:

  • 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.
Contacts and Locations
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Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03783923


Locations
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Sponsors and Collaborators
PTC Therapeutics
Investigators
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Study Director: Cristobal Passalacqua, MD PTC Therapeutics
  Study Documents (Full-Text)

Documents provided by PTC Therapeutics:
Study Protocol  [PDF] March 25, 2020
Statistical Analysis Plan  [PDF] October 28, 2020

More Information
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Responsible Party: PTC Therapeutics
ClinicalTrials.gov Identifier: NCT03783923    
Other Study ID Numbers: PTCEMF-GD-004
First Posted: December 21, 2018    Key Record Dates
Results First Posted: June 27, 2022
Last Update Posted: June 27, 2022
Last Verified: May 2022

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Studies a U.S. FDA-regulated Drug Product: Yes
Studies a U.S. FDA-regulated Device Product: No
Product Manufactured in and Exported from the U.S.: Yes
Additional relevant MeSH terms:
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Muscular Dystrophies
Muscular Dystrophies, Limb-Girdle
Muscular Disorders, Atrophic
Muscular Diseases
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases
 Genetic Diseases, Inborn
Deflazacort
Anti-Inflammatory Agents
Immunosuppressive Agents
Immunologic Factors
Physiological Effects of Drugs