Facioscapulohumeral muscular dystrophy MedDRA version: 17.1 Level: PT Classification code 10064087 Term: Facioscapulohumeral muscular dystrophy System Organ Class: 10010331 - Congenital, familial and genetic disorders
Conditions
Interventions
Product Name: ATYR1940
Product Code: ATYR1940
Pharmaceutical Form: Concentrate for solution for infusion
INN or Proposed INN: N/A
Current Sponsor code: ATYR1940
Concentration unit: mg/ml milligram(s)/
Sponsors
aTyr Pharma, Inc.
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1. Patient is a male or female aged 18 to 65 years, inclusive. 2. Patient has an established, genetically-confirmed, diagnosis of FSHD with clinical findings meeting existing criteria. 3. Patient has provided written informed consent after the nature of the study has been explained and prior to the performance of any research-related procedures. 4. Cohorts =2 only: Patient has imaging findings meeting defined criteria for muscle inflammation in at least 1 skeletal muscle (as per MRI Procedural Manual). Are the trial subjects under 18? no Number of subjects for this age range: F.1.2 Adults (18-64 years) yes F.1.2.1 Number of subjects for this age range 44 F.1.3 Elderly (>=65 years) no F.1.3.1 Number of subjects for this age range
Exclusion criteria
Exclusion criteria: 1. Patient is currently receiving treatment with an immunomodulatory agent or has a history of such treatment, including targeted biological therapies (e.g., etanercept, omalizumab) within the 3 months before Baseline; corticosteroids within 4 weeks before Baseline; or high-dose non-steroidal anti-inflammatory agents (NSAIDs) (either chronic or intermittent) within 2 weeks before Baseline. 2. Patient has evidence of an alternative diagnosis other than FSHD, based on prior muscle biopsy or genetic test findings. 3. Patient has a presumptive diagnosis of FSHD, based on clinical assessment, but does not yet have genetic confirmation of the diagnosis. 4. Patient has a history of obstructive or restrictive lung disease (including interstitial lung disease, pulmonary fibrosis, or asthma), or evidence for interstitial lung disease on Screening chest radiograph. 5. Patient has a history of anti-synthetase syndrome, prior Jo-1 antibody (Ab)-positivity, or has a positive or equivocally positive Jo-1 Ab test result during Screening. 6. Patient has symptomatic cardiomyopathy or severe cardiac arrhythmia that may, in the Investigator’s opinion, limit the patient’s ability to complete the study protocol. 7. Patient has evidence of clinically significant cardiovascular, pulmonary, hepatic, renal, hematological, metabolic, dermatological, or gastrointestinal disease, or has a condition that requires immediate surgical intervention or other treatment or may not allow safe participation. 8. Patient has used any investigational product or device (other than a mobility assistance device) within 30 days before Baseline. 9. Patient underwent muscle biopsy within 30 days before Baseline. 10. If female and of childbearing potential (premenopausal and not surgically sterile), patient has a positive pregnancy test at Screening or is unwilling to use contraception.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Secondary Objective: Explore pharmacodynamic (PD) changes in the following biological parameters: • FSHD-related inflammatory immune responses in skeletal muscle, as assessed by quantitative magnetic resonance imaging (MRI). • FSHD-related inflammatory immune state in peripheral blood, as assessed by: • Circulating immune proteins such as cytokines. • Ex vivo inflammatory immune protein (including cytokines) release from peripheral blood mononuclear cells (PBMCs). • Immunophenotyping (general and FSHD-related) of circulating PBMCs. Explore PD changes in the following clinical parameters: • Manual muscle testing (MMT), as determined by the Investigator. • Individualized Neuromuscular Quality of Life (INQoL) instrument, as determined by the patient.;Primary end point(s): Safety and Tolerability endpoints: • Change from Baseline of physical examination. • Incidence of AEs. • Change from Baseline in safety laboratory test results. • Change from Baseline in ECG findings. • Change from Baseline in vital sign measurements and pulmonary evaluations. • Antibody test results. • Incidence of infusion reactions and infusion site examination findings. PK Endpoints: • Standard PK parameters (Cmax, tmax, t1/2, etc).;Timepoint(s) of evaluation of this end point: Cohorts 1 and 2 AEs: visits 1 to 9 Sampling for safety lab tests & vital signs: Screening, visits 1 to 9 ECG: Screening, visits 2, 4, 6, 8 and 9 Pulmonary function tests: Screening, visits 3, 5, 8 and 9 Pulse oximetry: visits 1, 2, 3, 4 and 6 ADA & Jo-1 Ab: Screening, visits 3 to 9 PK: Cohort 1 & Cohort =2 = visits 2 to 7 =Cohort 3 AEs: visits 1 to 16 Sampling for safety lab tests: Screening, visits 1 to 6, 8, 10, 12 and 14 to 16 Vital signs: Screening, visits 1 to 16 ECG: Screening, visits 2, 4, 6, 9, 14 and 15 Pulmonary function tests: Screening, visits 3, 8/9/10 and 15 Pulse oximetry: visits 1 to 13 Jo-1 Ab: Screening, visits 3 to 16 ADA: Screening, visits 3 to 6, 10 and 14 | — |
Secondary
| Measure | Time frame |
|---|---|
| Secondary end point(s): PD Endpoints: • Changes in FSHD-related inflammatory immune state in peripheral blood and muscle. • Changes in the clinical parameters.;Timepoint(s) of evaluation of this end point: Cohorts 1 and 2 MRI: Screening/visit 1 and visit 7 INQoL: Screening and visit 7 MMT: Sceening and visits 3, 5 and 7 Serum/plasma for biomarkers: visits 1, 2, 5, 6 and 7 Immunophenotyping & protein release: visits 1, 5 and 7 =Cohort 3 MRI: Screening and visits 6, 14 and 15 INQoL: Screening and visits 6 and 14 MMT: Screening and visits 6, 10 and 14 Serum/plasma for biomarkers: visits 1, 2, 5, 9, 13 to 15 Immunophenotyping and protein release: Screening, visits 1, 5, 14 and 15 | — |
Countries
France, Italy, Netherlands, United States
Contacts
Public ContactClinical Trial Operations
Voisin Consulting
Outcome results
None listed