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

PTC Therapeutics

Status and phase: Terminated; Phase 3

Conditions: Limb-Girdle Muscular Dystrophy

Treatments: Drug: Deflazacort

Study type: Interventional

Funder types: Industry

Identifiers

NCT03783923

PTCEMF-GD-004

Details and patient eligibility

About

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).

Enrollment: 11 patients

Sex: All

Ages: 18+ years old

Volunteers: No 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.

Trial design

Primary purpose: Treatment

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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11 participants in 1 patient group

Deflazacort

Experimental group

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.

Treatment:

Drug: Deflazacort