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Study of ACE-083 in Patients With Facioscapulohumeral Muscular Dystrophy (FSHD)

Primary Purpose

Facioscapulohumeral Muscular Dystrophy

Status

Terminated

Phase

Phase 2

Locations

International

Study Type

Interventional

Intervention

ACE-083

ACE-083 or placebo

About this trial

This is an interventional treatment trial for Facioscapulohumeral Muscular Dystrophy focused on measuring FSHD

Eligibility Criteria

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

Key Inclusion Criteria:

Age ≥ 18 years
Genetically confirmed Facioscapulohumeral muscular dystrophy type 1 (FSHD1) or FSHD2 (or a first-degree relative with genetically confirmed FSHD1 or FSHD2) and clinical findings meeting FSHD criteria
Part 1 TA cohorts:
1. 6-minute walk distance (6MWD) ≥ 150 meters (without a brace)
2. Mild to moderate weakness in left and/or right ankle dorsiflexion
Part 1 BB cohorts:
a. Mild to moderate weakness in left and/or right elbow flexion
Part 2 TA cohorts:
1. 6MWD ≥ 150 and ≤ 500 meters (without a brace)
2. Mild to moderate weakness in left and right ankle dorsiflexion
Part 2 BB cohorts:
a. Mild to moderate weakness in left and/or right elbow flexion
Females of childbearing potential must have negative urine pregnancy test prior to enrollment and use highly effective birth control methods during study participation. Hormonal birth control use must be stable for at least 14 days prior to Day 1. Males must agree to use a condom during any sexual contact with females of childbearing potential while participating in the study even if he has undergone a successful vasectomy.

Key Exclusion Criteria:

Current/ active malignancy (e.g., remission less than 5 years duration), with the exception of fully excised or treated basal cell carcinoma, cervical carcinoma in-situ, or ≤ 2 squamous cell carcinomas of the skin
Symptomatic cardiopulmonary disease, significant functional impairment, or other co morbidities that in the opinion of the investigator would limit a patient's ability to complete strength and/or functional assessments on study
Renal impairment (serum creatinine ≥ 2 times the upper limit of normal,(ULN))
Aspartate transaminase (AST) and/or alanine transaminase (ALT) ≥ 3 times ULN
Increased risk of bleeding (i.e., due to hemophilia, platelet disorders, or use of any anti-coagulation/platelet modifying therapies up to 2 weeks prior to Study Day 1; low dose aspirin [≤ 100 mg daily] is permitted)
Major surgery within 4 weeks prior to Study Day 1
Chronic systemic corticosteroids (≥ 2 weeks) within 4 weeks before Study Day 1 and for duration of study; intra-articular/topical/inhaled therapeutic or physiologic doses of corticosteroids are permitted
Androgens or growth hormone within 6 months before Study Day 1 and for duration of study; topical physiologic androgen replacement is permitted
Any condition that would prevent MRI scanning or compromise the ability to obtain a clear and interpretable scan of the TA or BB muscles, as applicable (e.g., pacemaker, knee/hip replacement, or metallic implants)

Sites / Locations

University of California Los Angeles Medical Center
University of California Davis Medical Center
University of Colorado
Indiana University School of Medicine
University of Iowa
University of Kansas Medical Center
Johns Hopkins Hugo W. Moser Research Inst. at Kennedy Krieger Inc.
Brigham & Women's Hospital
University of Minnesota
Washington University School of Medicine
University of Rochester School of Medicine
Carolinas Healthcare System Neurosciences Institute
Duke University Medical Center
The Ohio State University
Oregon Health & Science University
University of Pennsylvania
University of Utah
Virginia Commonwealth University
University of Calgary
London Health Sciences Centre
Montreal Neurological Institute & Hospital
Hospital Universitario Vall d'Hebrón
Hospital de la Santa Creu i Sant Pau
Hospital Universitario y Politécnico La Fe

Arms of the Study

Arm 1

Arm 2

Arm 3

Arm 4

Arm 5

Arm 6

Arm 7

Arm 8

Arm 9

Arm 10

Arm Type

Experimental

Placebo Comparator

Experimental

Placebo Comparator

Experimental

Arm Label

ACE-083 (Part 1, Cohort 1a) Tibialis Anterior (TA) 150mg

ACE-083 (Part 1, Cohort 2a) Tibialis Anterior (TA) 200mg

ACE-083 (Part 1, Cohort 3a) Tibialis Anterior (TA) 200mg

ACE-083 (Part 1, Cohort 1b) Biceps Brachii (BB) 150 mg

ACE-083 (Part 1, Cohort 2b) Biceps Brachii (BB) 200 mg

ACE-083 (Part 1, Cohort 3b) Biceps Brachii (BB) 240 mg

Placebo (Part 2, DB-PC) Tibialis Anterior (TA)

ACE-083 (Part 2, DB-PC) Tibialis Anterior (TA) 240 mg

Placebo (Part 2, DB-PC) Biceps Brachii (BB)

ACE-083 (Part 2, DB-PC) Biceps Brachii (BB) 240 mg

Arm Description

ACE-083 150 mg TA unilaterally, once every 3 weeks for up to 5 doses. Drug: ACE-083 Recombinant fusion protein

ACE-083 200 mg TA unilaterally, once every 3 weeks for up to 5 doses. Drug: ACE-083 Recombinant fusion protein

ACE-083 200 mg TA bilaterally, once every 3 weeks for up to 5 doses. Drug: ACE-083 Recombinant fusion protein

ACE-083 150 mg BB unilaterally, once every 3 weeks for up to 5 doses. Drug: ACE-083 Recombinant fusion protein

ACE-083 200 mg BB unilaterally, once every 3 weeks for up to 5 doses. Drug: ACE-083 Recombinant fusion protein

ACE-083 240 mg BB unilaterally, once every 3 weeks for up to 5 doses. Drug: ACE-083 Recombinant fusion protein

Part 2, double-blind (DB) placebo-controlled (PC). Placebo TA bilaterally, once every 3 weeks for up to 9 doses. Drug: Placebo Normal saline Afterwards, participants were rolled over into the open-label portion and received ACE-083 240 mg TA bilaterally, once every 3 weeks for up to 8 doses. Drug: ACE-083 Recombinant fusion protein

Part 2, double-blind placebo-controlled. ACE-083 240 mg TA bilaterally, once every 3 weeks for up to 9 doses. Drug: ACE-083 Recombinant fusion protein Afterwards, participants were rolled over into the open-label portion and received ACE-083 240 mg TA bilaterally, once every 3 weeks for up to 8 doses. Drug: ACE-083 Recombinant fusion protein

Part 2, double-blind placebo-controlled. Placebo BB bilaterally, once every 3 weeks for up to 9 doses. Drug: Placebo Normal saline Afterwards, participants were rolled over into the open-label portion and received ACE-083 240 mg Biceps Brachii (BB) bilaterally, once every 3 weeks for up to 8 doses. Drug: ACE-083 Recombinant fusion protein

Part 2, double-blind placebo-controlled. ACE-083 240 mg Biceps Brachii (BB) bilaterally, once every 3 weeks for up to 9 doses. Drug: ACE-083 Recombinant fusion protein Afterwards, participants were rolled over into the open-label portion and received ACE-083 240 mg Biceps Brachii (BB) bilaterally, once every 3 weeks for up to 8 doses. Drug: ACE-083 Recombinant fusion protein

Outcomes

Primary Outcome Measures

Safety and Tolerability (Incidence of Adverse Events)

The number of participants that had a least one Treatment Emergent Adverse Event for the duration of each of the respective study parts.

Safety and Tolerability (Severity of Adverse Events, Grade 3 or Higher).

The number of participants that had a least one Treatment Emergent Adverse Event with CTCAE Grade 3 or Higher for the duration of each of the respective study parts.

Safety and Tolerability (Severity of Adverse Events- Dose Interruption, Reduction and/or Drug Withdrawal)

The number of participants that had a least one Treatment Emergent Adverse Event that led to dose interruption, dose reduction and/or drug withdrawn.

Total Muscle Volume (TMV) of the Treated Muscle in Patients With FSHD Administered ACE-083 or Placebo During Part 2 (Randomized, Controlled Portion)

Total Muscle Volume (TMV)of the treated muscle in Patients with FSHD administered ACE-083 or placebo During Part 2 (randomized, controlled portion) from Baseline to Day 190. Total Muscle volume was measured by Magnetic Resonance Imaging (MRI). MRI was performed bilaterally on the tibialis anterior and the biceps brachii on Day 1, Day Day 43, Day 106, and Day 190. Baseline and Day 190 total muscle volume, means and standard deviations are reported.

Percent Change of Total Muscle Volume (TMV) of the Treated Muscle in Patients With FSHD Administered ACE-083 or Placebo During Part 2 (Randomized, Controlled Portion)

Percent Change of Total Muscle Volume (TMV)of the treated muscle in Patients with FSHD administered ACE-083 or placebo During Part 2 (randomized, controlled portion) from Baseline to Day 190. Total Muscle volume was measured by Magnetic Resonance Imaging (MRI). MRI was performed bilaterally on the tibialis anterior and the biceps brachii on Day 1, Day Day 43, Day 106, and Day 190. Percent Change from Baseline to Day 190 total muscle volume, mean and standard deviation is reported.

Secondary Outcome Measures

Percent Change in Total Muscle Volume (TMV) in Muscle in Patients With FSHD Administered ACE-083 During Part 1 (Open-label, Dose-escalation Portion)

Percent Change in Total Muscle Volume (TMV) in muscle in patients with FSHD administered ACE-083 During 1 (open-label, dose-escalation portion) from Baseline to Day 106. Total Muscle volume was measured by Magnetic Resonance Imaging (MRI). MRI was performed bilaterally on the tibialis anterior and the biceps brachii on Day 1, Day Day 43, and Day 106, change from Baseline and Day 106 reported.

Absolute Change in Fat Fraction (FF) of the Muscle in Patients With FSHD Administered ACE-083 or Placebo During Part 2 (Randomized, Controlled Portion)

Absolute change in Fat Fraction (FF) of the muscle in patients with FSHD administered ACE-083 or Placebo During Part 2 (randomized, controlled portion) from Baseline to Day 190. Absolute change in intramuscular fat fraction in the tibialis anterior and biceps brachii were measured by Magnetic Resonance Imaging (MRI). MRI was performed bilaterally on the tibialis anterior and the biceps brachii on Day 1, Day Day 43, Day 106, and Day 190, change from Baseline and Day 190 reported.

Percent Change From Baseline in Function of Tibialis Anterior, Part 2 (Randomized, Controlled Portion)

Percent change from baseline in function of Tibialis Anterior during Part 2 assessed by: 6-minute walk test, 10 meter walk/run and 4-stair climb (ascend)

Percent Change From Baseline in Strength of Biceps Brachii, Part 2, Randomized-controlled

Elbow flexion strength measured by hand-held dynamometry (quantitative muscle testing), maximum voluntary isometric contraction (MVIC).

Percent Change From Baseline in Performance of the Upper Limb (PUL) Mid-Level Elbow Dimension, Part 2, Randomized-controlled

Percent Change from Baseline in Performance of the Upper Limb (PUL) Mid-Level Elbow Dimension, Part 2, Randomized-controlled, PUL from baseline to end of treatment (Day 190). The Performance of the Upper Limb is an assessment specifically designed for patients with Duchenne muscular dystrophy. The measures used in this study was a subset of the assessment. PUL was assessment by measures of high-level of movement (lifting weights of 50g, 200g, 500g and 1000g at shoulder height and above shoulder height) and mid-level movement by performing tasks with and without weights: hand to mouth with and without weights (50, 200g), hand to table, moving weights on table (100g, 200g, 500g and 1000g), lift light and heavy cans, stack light and heavy cans, remove lid from container, tearing paper).

Change From Baseline in Facioscapulohumeral Muscular Dystrophy-health Index (FSHD-HI), Patient-reported Outcome (PRO) Measures Part 2 (Randomized, Controlled Portion)- Total Score

The facioscapulohumeral muscular dystrophy-health index (FSHD-HI) is a disease-specific patient-reported outcome (PRO) tool assessed by health-related quality of life and disease burden. The FSHD-HI questionnaire was designed to measure both overall FSHD health-related quality-of-life and 14 separate subdomains designed and based on patient interviews to measure total FSHD health-related quality-of-life, including both motor impairment and the social and emotional impact of FSHD. The 116 questions are combined into a total score, the score is transformed onto a percentage scale; with a range of 0-100, with 100 representing maximal disability, and lower scores representing decreasing disability, 0 representing no disability. The mean and standard deviation for baseline and day 190 are reported as is the absolute change from baseline to Day 190 during the randomized controlled portion of Part 2.

ACE-083 Serum Concentration Following Local Intramuscular Administration (200 mg Tibialis Anterior (TA) Bilaterally) Day 2, 24-hours After Dose

Pharmacokinetic assessment included ACE-083 serum concentration collection and on a dosing day had a ±15 minute window for post-dose sample collection, based on the time of the first injection. Timepoints that have data are reported; Day 2, 24-hours after dose is reported.

ACE-083 Serum Concentration Following Local Intramuscular Administration (200 mg Tibialis Anterior (TA) Bilaterally) Day 85, 6-hours After Dose

Pharmacokinetic assessment included ACE-083 serum concentration and on a dosing day had a ±15 minute window for post-dose sample collection, based on the time of the first injection. The timepoints for which data is available are reported. Day 86, 6-hours post-dose is reported.

ACE-083 Serum Concentration Following Local Intramuscular Administration (200 mg Biceps Brachii (BB) Unilateral) Day 1, 6-hours Post-dose

ACE-083 Serum Concentration Following Local Intramuscular Administration (200 mg Biceps Brachii (BB) Unilateral) Day 85, 4-hours Post-dose

ACE-083 Serum Concentration Following Local Intramuscular Administration (240 mg Tibialis Anterior (TA) Bilaterally) Day 2, 24- Hours Post-dose

ACE-083 Serum Concentration Following Local Intramuscular Administration (240 mg Tibialis Anterior (TA) Bilaterally) Day 86, 24- Hours Post-dose

ACE-083 Serum Concentration Following Local Intramuscular Administration (240 mg Biceps Brachii (BB) Bilaterally) Day 2, 24- Hours Post-dose

ACE-083 Serum Concentration Following Local Intramuscular Administration (240 mg Biceps Brachii (BB) Bilaterally) Day 86, 24 Hours Post-dose

Full Information

NCT ID

NCT02927080

First Posted

October 5, 2016

Last Updated

September 14, 2022

Sponsor

Acceleron Pharma, Inc., a wholly-owned subsidiary of Merck & Co., Inc., Rahway, NJ USA

1. Study Identification

Unique Protocol Identification Number

NCT02927080

Brief Title

Study of ACE-083 in Patients With Facioscapulohumeral Muscular Dystrophy (FSHD)

Official Title

A Phase 2 Randomized, Double-Blind, Placebo-Controlled Study of ACE-083 in Patients With Facioscapulohumeral Muscular Dystrophy

Study Type

Interventional

2. Study Status

Record Verification Date

September 2022

Overall Recruitment Status

Terminated

Why Stopped

Study was discontinued as it did not achieve functional secondary endpoints.

Study Start Date

November 2016 (Actual)

Primary Completion Date

September 17, 2019 (Actual)

Study Completion Date

October 9, 2019 (Actual)

3. Sponsor/Collaborators

Responsible Party, by Official Title

Sponsor

Name of the Sponsor

Acceleron Pharma, Inc., a wholly-owned subsidiary of Merck & Co., Inc., Rahway, NJ USA

4. Oversight

Data Monitoring Committee

Yes

5. Study Description

Brief Summary

Study A083-02 is a multi-center, Phase 2 study to evaluate the safety, tolerability, pharmacodynamics (PD), efficacy, and pharmacokinetics (PK) of locally-acting ACE-083 in patients with Facioscapulohumeral muscular dystrophy (FSHD) to be conducted in two parts. Part 1 is open-label, dose-escalation and Part 2 is randomized, double-blind, and placebo-controlled.

Detailed Description

Part 1 (dose escalation, open-label) Part 1 will consist of up to 6 cohorts of patients and will evaluate multiple ascending dose levels of ACE-083 administered unilaterally or bilaterally to either the tibialis anterior (TA) or biceps brachii (BB) muscle(s). Patients in each cohort will be enrolled in a 4-week screening period before beginning treatment. A Safety Review Team (SRT) will meet to review data for each cohort when at least 4 patients within a cohort have completed their Day 43 visit prior to dose escalation of the next cohort. Study duration for Part 1 for each patient will be approximately 24 weeks, including a 4-week screening period, a 12-week treatment period, and an 8-week follow-up period after the last dose. Part 2 (randomized, double-blind, placebo-controlled, with open-label extension) Prior to the initiation of Part 2, a review of safety and efficacy data from Part 1 will be conducted to determine whether cohorts for one or both muscles will be pursued in Part 2, as well as the recommended dose level for each muscle. A total of up to 56 new patients (28 patients per muscle) may be enrolled and randomized (1:1) to receive either ACE-083 (n=14/muscle) or placebo (n=14/muscle) bilaterally to either the TA or BB muscles (but not both). Patients will receive blinded study drug once every three weeks for approximately 6 months (9 doses). Patients who complete the double-blind treatment period will immediately roll over to open-label treatment with ACE-083, receiving the same dose of active drug, bilaterally in either the TA or BB muscle, once every three weeks for approximately 6 months (8 doses). In Part 2, the SRT will periodically review blinded safety data for each muscle treated. Study duration for Part 2 for each patient will be approximately 15 months, including a 1-month screening period, a 12-month treatment period (6-month double-blind, placebo-controlled and a 6-month open-label extension), and a 2-month follow-up period after the last dose

6. Conditions and Keywords

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

Facioscapulohumeral Muscular Dystrophy

Keywords

FSHD

7. Study Design

Primary Purpose

Treatment

Study Phase

Phase 2

Interventional Study Model

Parallel Assignment

Masking

ParticipantCare ProviderInvestigatorOutcomes Assessor

Allocation

Randomized

Enrollment

95 (Actual)

8. Arms, Groups, and Interventions

Arm Title

ACE-083 (Part 1, Cohort 1a) Tibialis Anterior (TA) 150mg

Arm Type

Experimental

Arm Description

ACE-083 150 mg TA unilaterally, once every 3 weeks for up to 5 doses. Drug: ACE-083 Recombinant fusion protein

Arm Title

ACE-083 (Part 1, Cohort 2a) Tibialis Anterior (TA) 200mg

Arm Type

Experimental

Arm Description

ACE-083 200 mg TA unilaterally, once every 3 weeks for up to 5 doses. Drug: ACE-083 Recombinant fusion protein

Arm Title

ACE-083 (Part 1, Cohort 3a) Tibialis Anterior (TA) 200mg

Arm Type

Experimental

Arm Description

ACE-083 200 mg TA bilaterally, once every 3 weeks for up to 5 doses. Drug: ACE-083 Recombinant fusion protein

Arm Title

ACE-083 (Part 1, Cohort 1b) Biceps Brachii (BB) 150 mg

Arm Type

Experimental

Arm Description

ACE-083 150 mg BB unilaterally, once every 3 weeks for up to 5 doses. Drug: ACE-083 Recombinant fusion protein

Arm Title

ACE-083 (Part 1, Cohort 2b) Biceps Brachii (BB) 200 mg

Arm Type

Experimental

Arm Description

ACE-083 200 mg BB unilaterally, once every 3 weeks for up to 5 doses. Drug: ACE-083 Recombinant fusion protein

Arm Title

ACE-083 (Part 1, Cohort 3b) Biceps Brachii (BB) 240 mg

Arm Type

Experimental

Arm Description

ACE-083 240 mg BB unilaterally, once every 3 weeks for up to 5 doses. Drug: ACE-083 Recombinant fusion protein

Arm Title

Placebo (Part 2, DB-PC) Tibialis Anterior (TA)

Arm Type

Placebo Comparator

Arm Description

Arm Title

ACE-083 (Part 2, DB-PC) Tibialis Anterior (TA) 240 mg

Arm Type

Experimental

Arm Description

Arm Title

Placebo (Part 2, DB-PC) Biceps Brachii (BB)

Arm Type

Placebo Comparator

Arm Description

Arm Title

ACE-083 (Part 2, DB-PC) Biceps Brachii (BB) 240 mg

Arm Type

Experimental

Arm Description

Intervention Type

Drug

Intervention Name(s)

ACE-083

Intervention Description

Recombinant fusion protein.

Intervention Type

Drug

Intervention Name(s)

ACE-083 or placebo

Intervention Description

Recombinant fusion protein or normal saline.

Primary Outcome Measure Information:

Title

Safety and Tolerability (Incidence of Adverse Events)

Description

The number of participants that had a least one Treatment Emergent Adverse Event for the duration of each of the respective study parts.

Time Frame

From initiation of treatment to Day 106 for Part 1 and Day 190 for Part 2

Title

Safety and Tolerability (Severity of Adverse Events, Grade 3 or Higher).

Description

The number of participants that had a least one Treatment Emergent Adverse Event with CTCAE Grade 3 or Higher for the duration of each of the respective study parts.

Time Frame

From initiation of treatment to Day 106 for Part 1 and Day 190 for Part 2

Title

Safety and Tolerability (Severity of Adverse Events- Dose Interruption, Reduction and/or Drug Withdrawal)

Description

The number of participants that had a least one Treatment Emergent Adverse Event that led to dose interruption, dose reduction and/or drug withdrawn.

Time Frame

From initiation of treatment to Day 106 for Part 1 and Day 190 for Part 2

Title

Total Muscle Volume (TMV) of the Treated Muscle in Patients With FSHD Administered ACE-083 or Placebo During Part 2 (Randomized, Controlled Portion)

Description

Time Frame

Time Frame: From initiation of treatment to Study Visit Day 190

Title

Percent Change of Total Muscle Volume (TMV) of the Treated Muscle in Patients With FSHD Administered ACE-083 or Placebo During Part 2 (Randomized, Controlled Portion)

Description

Time Frame

Time Frame: From initiation of treatment to Study Visit Day 190

Secondary Outcome Measure Information:

Title

Percent Change in Total Muscle Volume (TMV) in Muscle in Patients With FSHD Administered ACE-083 During Part 1 (Open-label, Dose-escalation Portion)

Description

Time Frame

Time Frame: From initiation of treatment to Study Visit Day 106

Title

Absolute Change in Fat Fraction (FF) of the Muscle in Patients With FSHD Administered ACE-083 or Placebo During Part 2 (Randomized, Controlled Portion)

Description

Time Frame

Time Frame: From initiation of treatment to Study Visit Day 190

Title

Percent Change From Baseline in Function of Tibialis Anterior, Part 2 (Randomized, Controlled Portion)

Description

Percent change from baseline in function of Tibialis Anterior during Part 2 assessed by: 6-minute walk test, 10 meter walk/run and 4-stair climb (ascend)

Time Frame

From initiation of treatment (Study Day 1) to Study Visit Day 190

Title

Percent Change From Baseline in Strength of Biceps Brachii, Part 2, Randomized-controlled

Description

Elbow flexion strength measured by hand-held dynamometry (quantitative muscle testing), maximum voluntary isometric contraction (MVIC).

Time Frame

From initiation of treatment (Study Day 1) to Study Visit Day 190

Title

Percent Change From Baseline in Performance of the Upper Limb (PUL) Mid-Level Elbow Dimension, Part 2, Randomized-controlled

Description

Time Frame

From initiation of treatment (Study Day 1) to Study Visit Day 190

Title

Change From Baseline in Facioscapulohumeral Muscular Dystrophy-health Index (FSHD-HI), Patient-reported Outcome (PRO) Measures Part 2 (Randomized, Controlled Portion)- Total Score

Description

Time Frame

Time Frame: From initiation of treatment (Study Day 1) to Study Visit Day 190

Title

ACE-083 Serum Concentration Following Local Intramuscular Administration (200 mg Tibialis Anterior (TA) Bilaterally) Day 2, 24-hours After Dose

Description

Time Frame

Day 2, 24-hours after dose

Title

ACE-083 Serum Concentration Following Local Intramuscular Administration (200 mg Tibialis Anterior (TA) Bilaterally) Day 85, 6-hours After Dose

Description

Time Frame

Study Day 85 (6 hours post-dose)

Title

ACE-083 Serum Concentration Following Local Intramuscular Administration (200 mg Biceps Brachii (BB) Unilateral) Day 1, 6-hours Post-dose

Description

Time Frame

Study Day 1, 6-hours post-dose

Title

ACE-083 Serum Concentration Following Local Intramuscular Administration (200 mg Biceps Brachii (BB) Unilateral) Day 85, 4-hours Post-dose

Description

Time Frame

Study Day 85, 4-hours post-dose

Title

ACE-083 Serum Concentration Following Local Intramuscular Administration (240 mg Tibialis Anterior (TA) Bilaterally) Day 2, 24- Hours Post-dose

Description

Time Frame

Day 2, 24-hours post-dose

Title

ACE-083 Serum Concentration Following Local Intramuscular Administration (240 mg Tibialis Anterior (TA) Bilaterally) Day 86, 24- Hours Post-dose

Description

Time Frame

Day 86, 24-hours post-dose

Title

ACE-083 Serum Concentration Following Local Intramuscular Administration (240 mg Biceps Brachii (BB) Bilaterally) Day 2, 24- Hours Post-dose

Description

Time Frame

Day 2, 24-hours post-dose

Title

ACE-083 Serum Concentration Following Local Intramuscular Administration (240 mg Biceps Brachii (BB) Bilaterally) Day 86, 24 Hours Post-dose

Description

Time Frame

Day 86, 24- hours post-dose

10. Eligibility

Sex

All

Minimum Age & Unit of Time

18 Years

Accepts Healthy Volunteers

Eligibility Criteria

Key Inclusion Criteria: Age ≥ 18 years Genetically confirmed Facioscapulohumeral muscular dystrophy type 1 (FSHD1) or FSHD2 (or a first-degree relative with genetically confirmed FSHD1 or FSHD2) and clinical findings meeting FSHD criteria Part 1 TA cohorts: 6-minute walk distance (6MWD) ≥ 150 meters (without a brace) Mild to moderate weakness in left and/or right ankle dorsiflexion Part 1 BB cohorts: a. Mild to moderate weakness in left and/or right elbow flexion Part 2 TA cohorts: 6MWD ≥ 150 and ≤ 500 meters (without a brace) Mild to moderate weakness in left and right ankle dorsiflexion Part 2 BB cohorts: a. Mild to moderate weakness in left and/or right elbow flexion Females of childbearing potential must have negative urine pregnancy test prior to enrollment and use highly effective birth control methods during study participation. Hormonal birth control use must be stable for at least 14 days prior to Day 1. Males must agree to use a condom during any sexual contact with females of childbearing potential while participating in the study even if he has undergone a successful vasectomy. Key Exclusion Criteria: Current/ active malignancy (e.g., remission less than 5 years duration), with the exception of fully excised or treated basal cell carcinoma, cervical carcinoma in-situ, or ≤ 2 squamous cell carcinomas of the skin Symptomatic cardiopulmonary disease, significant functional impairment, or other co morbidities that in the opinion of the investigator would limit a patient's ability to complete strength and/or functional assessments on study Renal impairment (serum creatinine ≥ 2 times the upper limit of normal,(ULN)) Aspartate transaminase (AST) and/or alanine transaminase (ALT) ≥ 3 times ULN Increased risk of bleeding (i.e., due to hemophilia, platelet disorders, or use of any anti-coagulation/platelet modifying therapies up to 2 weeks prior to Study Day 1; low dose aspirin [≤ 100 mg daily] is permitted) Major surgery within 4 weeks prior to Study Day 1 Chronic systemic corticosteroids (≥ 2 weeks) within 4 weeks before Study Day 1 and for duration of study; intra-articular/topical/inhaled therapeutic or physiologic doses of corticosteroids are permitted Androgens or growth hormone within 6 months before Study Day 1 and for duration of study; topical physiologic androgen replacement is permitted Any condition that would prevent MRI scanning or compromise the ability to obtain a clear and interpretable scan of the TA or BB muscles, as applicable (e.g., pacemaker, knee/hip replacement, or metallic implants)

Facility Information:

Facility Name

University of California Los Angeles Medical Center

City

Los Angeles

State/Province

California

ZIP/Postal Code

90095

Country

United States

Facility Name

University of California Davis Medical Center

City

Sacramento

State/Province

California

ZIP/Postal Code

95817

Country

United States

Facility Name

University of Colorado

City

Aurora

State/Province

Colorado

ZIP/Postal Code

80045

Country

United States

Facility Name

Indiana University School of Medicine

City

Indianapolis

State/Province

Indiana

ZIP/Postal Code

46202

Country

United States

Facility Name

University of Iowa

City

Iowa City

State/Province

Iowa

ZIP/Postal Code

52242

Country

United States

Facility Name

University of Kansas Medical Center

City

Kansas City

State/Province

Kansas

ZIP/Postal Code

66160

Country

United States

Facility Name

Johns Hopkins Hugo W. Moser Research Inst. at Kennedy Krieger Inc.

City

Baltimore

State/Province

Maryland

ZIP/Postal Code

21205

Country

United States

Facility Name

Brigham & Women's Hospital

City

Boston

State/Province

Massachusetts

ZIP/Postal Code

02115

Country

United States

Facility Name

University of Minnesota

City

Minneapolis

State/Province

Minnesota

ZIP/Postal Code

55455

Country

United States

Facility Name

Washington University School of Medicine

City

Saint Louis

State/Province

Missouri

ZIP/Postal Code

63110

Country

United States

Facility Name

University of Rochester School of Medicine

City

Rochester

State/Province

New York

ZIP/Postal Code

14642

Country

United States

Facility Name

Carolinas Healthcare System Neurosciences Institute

City

Charlotte

State/Province

North Carolina

ZIP/Postal Code

28203

Country

United States

Facility Name

Duke University Medical Center

City

Durham

State/Province

North Carolina

ZIP/Postal Code

27710

Country

United States

Facility Name

The Ohio State University

City

Columbus

State/Province

Ohio

ZIP/Postal Code

43210

Country

United States

Facility Name

Oregon Health & Science University

City

Portland

State/Province

Oregon

ZIP/Postal Code

97239

Country

United States

Facility Name

University of Pennsylvania

City

Philadelphia

State/Province

Pennsylvania

ZIP/Postal Code

19104

Country

United States

Facility Name

University of Utah

City

Salt Lake City

State/Province

Utah

ZIP/Postal Code

84112

Country

United States

Facility Name

Virginia Commonwealth University

City

Richmond

State/Province

Virginia

ZIP/Postal Code

23298

Country

United States

Facility Name

University of Calgary

City

Calgary

State/Province

Alberta

ZIP/Postal Code

T2N4Z6

Country

Canada

Facility Name

London Health Sciences Centre

City

London

State/Province

Ontario

ZIP/Postal Code

N6A5W9

Country

Canada

Facility Name

Montreal Neurological Institute & Hospital

City

Montréal

State/Province

Quebec

ZIP/Postal Code

H3A 2B4

Country

Canada

Facility Name

Hospital Universitario Vall d'Hebrón

City

Barcelona

ZIP/Postal Code

08035

Country

Spain

Facility Name

Hospital de la Santa Creu i Sant Pau

City

Barcelona

ZIP/Postal Code

08041

Country

Spain

Facility Name

Hospital Universitario y Politécnico La Fe

City

Valencia

ZIP/Postal Code

46026

Country

Spain

12. IPD Sharing Statement

Learn more about this trial

Study of ACE-083 in Patients With Facioscapulohumeral Muscular Dystrophy (FSHD)

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