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

Primary Purpose

Limb-Girdle Muscular Dystrophy

Status

Terminated

Phase

Phase 3

Locations

International

Study Type

Interventional

Intervention

Deflazacort

About this trial

This is an interventional treatment trial for Limb-Girdle Muscular Dystrophy

Eligibility Criteria

18 Years - undefined (Adult, Older Adult)All SexesDoes not accept healthy volunteers

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.

Sites / Locations

Rare Disease Research, LLC
University of Iowa Hospitals and Clinics
The University of Kansas Medical Center
Hugo W Moser Research Institute at Kennedy Krieger Institute
University of Minnesota
Washington University School of Medicine
University of Pennsylvania
University of Washington
University of Alberta
Ottawa Hospital
Rigshospitalet, University of Copenhagen
CHRU de NANCY Service de Neurologie
University Hospital La Timone
Ludwig-Maximilians University Munich, Friedrich-Baur-Institute
Oslo University Hospital
Pirogov Russian National Research Medical University
Saint-Petersburg State Pediatric Medical University
Sahlgrenska University Hospital

Arms of the Study

Arm 1

Arm Type

Experimental

Arm Label

Deflazacort

Arm Description

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.

Outcomes

Primary Outcome Measures

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

Secondary Outcome Measures

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

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

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

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

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

Change From Baseline in Maximal Inspiratory Pressure (MIP) and Maximal Expiratory Pressure (MEP) After 26 Weeks of Treatment With Deflazacort

Change From Baseline in Hand-Held Myometry After 26 Weeks of Treatment With Deflazacort

Change From Baseline in Global T2 Relaxation Time of Selected Upper and Lower Limb Muscles After 26 Weeks of Treatment With Deflazacort

Number of Participants With Adverse Events (AEs)

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.

Area Under the Concentration Curve From Time Zero to t (AUC0-t) of 21-desacetyl Deflazacort and 6β-hydroxy-21-desacetyl Deflazacort

Area Under the Concentration Curve From Time Zero to Infinity (AUC0-inf) of 21-desacetyl Deflazacort and 6β-hydroxy-21-desacetyl Deflazacort

Maximum Observed Plasma Concentration (Cmax) of 21-desacetyl Deflazacort and 6β-hydroxy-21-desacetyl Deflazacort

Time to Reach Cmax (Tmax) of 21-desacetyl Deflazacort and 6β-hydroxy-21-desacetyl Deflazacort

Half-Life (t1/2) of 21-desacetyl Deflazacort and 6β-hydroxy-21-desacetyl Deflazacort

Full Information

NCT ID

NCT03783923

First Posted

December 19, 2018

Last Updated

May 31, 2022

Sponsor

PTC Therapeutics

1. Study Identification

Unique Protocol Identification Number

NCT03783923

Brief Title

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

Official Title

A Multicenter Open-Label Study on the Safety and Efficacy of Deflazacort (Emflaza) in Subjects With Limb-Girdle Muscular Dystrophy 2I (LGMD2I)

Study Type

Interventional

2. Study Status

Record Verification Date

May 2022

Overall Recruitment Status

Terminated

Why Stopped

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

Study Start Date

October 31, 2019 (Actual)

Primary Completion Date

January 1, 2021 (Actual)

Study Completion Date

January 1, 2021 (Actual)

3. Sponsor/Collaborators

Responsible Party, by Official Title

Sponsor

Name of the Sponsor

PTC Therapeutics

4. Oversight

Studies a U.S. FDA-regulated Drug Product

Yes

Studies a U.S. FDA-regulated Device Product

Product Manufactured in and Exported from the U.S.

Yes

Data Monitoring Committee

5. Study Description

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).

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study

Limb-Girdle Muscular Dystrophy

7. Study Design

Primary Purpose

Treatment

Study Phase

Phase 3

Interventional Study Model

Single Group Assignment

Masking

None (Open Label)

Allocation

N/A

Enrollment

11 (Actual)

8. Arms, Groups, and Interventions

Arm Title

Deflazacort

Arm Type

Experimental

Arm Description

Intervention Type

Drug

Intervention Name(s)

Deflazacort

Other Intervention Name(s)

Emflaza®

Intervention Description

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

Primary Outcome Measure Information:

Title

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

Time Frame

Baseline, Week 26

Secondary Outcome Measure Information:

Title

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

Time Frame

Baseline, Week 26

Title

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

Time Frame

Baseline, Week 26

Title

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

Time Frame

Baseline, Week 26

Title

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

Time Frame

Baseline, Week 26

Title

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

Time Frame

Baseline, Week 26

Title

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

Title

Change From Baseline in Hand-Held Myometry After 26 Weeks of Treatment With Deflazacort

Time Frame

Baseline, Week 26

Title

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

Title

Number of Participants With Adverse Events (AEs)

Description

Time Frame

Baseline up to Week 52

Title

Area Under the Concentration Curve From Time Zero to t (AUC0-t) of 21-desacetyl Deflazacort and 6β-hydroxy-21-desacetyl Deflazacort

Time Frame