MedPath

A Study of Belcesiran in Patients With AATLD

Phase 2
Terminated
Conditions
Alpha 1-Antitrypsin Deficiency
Interventions
Other: Placebo
Registration Number
NCT04764448
Lead Sponsor
Dicerna Pharmaceuticals, Inc., a Novo Nordisk company
Brief Summary

This is a multiple dose, randomized, placebo-controlled, double-blind study of belcesiran to evaluate the safety, tolerability, PK, and PD in adult patients with PiZZ AATD-associated liver disease (AATLD).

The study will be conducted in 3 separate cohorts. A total of up to 16 participants may be enrolled in Cohort 1 and 2. A total number of 30 subjects will be enrolled in cohort 3. The 3 cohorts are differentiated by the duration of the treatment period, the number of doses administered, and the timing of the second liver biopsy.

Detailed Description

AATD-associated liver disease is a progressive condition resulting in liver fibrosis, cirrhosis, and in some cases hepatocellular carcinoma. The lack of functional alpha-1 antitrypsin (AAT) in individuals with the PiZZ genotype, in conjunction with other precipitating factors, can lead to unchecked activity of neutrophil elastases in the alveoli; causing emphysema and chronic obstructive pulmonary disease (COPD). This loss-of-function mechanism may be addressed by use of intravenous augmentation therapy, which aims to substitute the missing AAT by infusing alpha-1 proteinase inhibitor (A1PI), purified from pooled human plasma.

While augmentation therapy can address the loss of AAT in the lung, no treatment exists for the associated liver disease.

Given the severity of the disease, with approximately 10% of affected patients developing liver cirrhosis and a subgroup of those patients in need of liver transplantation, and the lack of an effective treatment that addresses the toxic hepatic "gain-of-function" mechanism, there is an urgent unmet medical need to develop a therapy that can help this particular patient population.

Recruitment & Eligibility

Status
TERMINATED
Sex
All
Target Recruitment
16
Inclusion Criteria
  • 18 to 75 years, inclusive, at the time of consent.
  • Documented diagnosis of PiZZ-type alpha-1 antitrypsin deficiency, confirmed by genotyping. Historical genotyping data may be used, if available.
  • AATD-associated liver disease documented by liver biopsy at Screening.
  • Consent to undergo paired liver biopsies.
  • Lung, renal and liver function within acceptable limits
  • Capable of giving signed informed consent, which includes compliance with the requirements and restrictions listed in the ICF and in this protocol.
Exclusion Criteria
  • History of chronic liver disease other than non-alcoholic fatty liver disease from any cause other than PiZZ-type alpha-1 antitrypsin deficiency.
  • Child-Pugh Score B or C.
  • History of one single severe exacerbation of underlying lung disease in the year prior to randomization.
  • History of clinically significant respiratory infections (including pneumonia and lower respiratory tract infections), as determined by the Investigator, in the 3 months prior to screening
  • Use of an RNAi drug at any time.

Study & Design

Study Type
INTERVENTIONAL
Study Design
PARALLEL
Arm && Interventions
GroupInterventionDescription
Placebo Cohort 1Placebo-
Placebo Cohort 3Placebo-
Placebo Cohort 2Placebo-
Belcesiran Cohort 2Belcesiran-
Belcesiran Cohort 1Belcesiran-
Belcesiran Cohort 3Belcesiran-
Primary Outcome Measures
NameTimeMethod
Change From Baseline in Clinical Laboratory Tests: Basophils, Eosinophils, Leucocytes, Lymphocytes, Monocytes, Neutrophils and PlateletsBaseline (Day 1), week 96

Change from baseline (Day 1) to week 96 in basophils, eosinophils, leucocytes, lymphocytes, monocytes, neutrophils and platelets is presented.

Change From Baseline in Clinical Laboratory Tests: Basophils/LeucocytesBaseline (Day 1), week 96

Change from baseline (Day 1) to week 96 in basophils/leucocytes is presented.

Change From Baseline in Clinical Laboratory Tests: Eosinophils/LeucocytesBaseline (Day 1), week 96

Change from baseline (Day 1) to week 96 in eosinophils/leucocytes is presented.

Change From Baseline in Clinical Laboratory Tests: HaematocritBaseline (Day 1), week 96

Change from baseline (Day 1) to week 96 in haematocrit is presented.

Change From Baseline in Clinical Laboratory Tests: Lymphocytes/LeucocytesBaseline (Day 1), week 96

Change from baseline (Day 1) to week 96 in lymphocytes/leucocytes is presented.

Change From Baseline in Clinical Laboratory Tests: Monocytes/LeucocytesBaseline (Day 1), week 96

Change from baseline (Day 1) to week 96 in monocytes/leucocytes is presented.

Change From Baseline in Clinical Laboratory Tests: Neutrophils/LeucocytesBaseline (Day 1), week 96

Change from baseline (Day 1) to week 96 in neutrophils/leucocytes is presented.

Change From Baseline in Clinical Laboratory Tests: Reticulocytes/ErythrocytesBaseline (Day 1), week 96

Change from baseline (Day 1) to week 96 in reticulocytes/erythrocytes is presented.

Change From Baseline in Clinical Laboratory Tests: Erythrocyte Mean Corpuscular Haemoglobin Concentration and HaemoglobinBaseline (Day 1), week 96

Change from baseline (Day 1) to week 96 in erythrocyte mean corpuscular haemoglobin concentration and haemoglobin is presented.

Change From Baseline in Clinical Laboratory Tests: Erythrocyte Mean Corpuscular HaemoglobinBaseline (Day 1), week 96

Change from baseline (Day 1) to week 96 in erythrocyte mean corpuscular haemoglobin is presented.

Change From Baseline in Clinical Laboratory Tests: Erythrocyte Mean Corpuscular VolumeBaseline (Day 1), week 96

Change from baseline (Day 1) to week 96 in erythrocyte mean corpuscular volume is presented.

Change From Baseline in Clinical Laboratory Tests: ErythrocytesBaseline (Day 1), week 96

Change from baseline (Day 1) to week 96 in erythrocytes is presented.

Change From Baseline in Clinical Laboratory Tests: Specific GravityBaseline (Day 1), week 96

Change from baseline (Day 1) to week 96 in specific gravity is reported.

Change From Baseline in Clinical Laboratory Tests: Urine Erythrocytes and Urine LeucocytesBaseline (Day 1), week 96

Change from baseline (Day 1) to week 96 in urine erythrocytes and urine leucocytes is presented.

Change From Baseline in Clinical Laboratory Tests: Potential of Hydrogen (pH)Baseline (Day 1), week 96

Change from baseline (Day 1) to week 96 in pH is presented.

Change From Baseline in Clinical Laboratory Tests: Activated Partial Thromboplastin Time and Prothrombin TimeBaseline (Day 1), week 96

Change from baseline (Day 1) to week 96 in activated partial thromboplastin time and prothrombin time is presented.

Change From Baseline in Clinical Laboratory Tests: Prothrombin International Normalized RatioBaseline (Day 1), week 96

Change from baseline (Day 1) to week 96 in prothrombin international normalized ratio is presented.

Change in Clinical Laboratory Tests: Alpha Fetoprotein, Biomarker Hyaluronic Acid, Biomarker Matrix Metalloproteinase 9, Biomarker Procollagen 3 N-Terminal Propeptide, Biomarker Tissue Inhibitor of Metalloproteinase 1, Complement C3a and Complement C5aBaseline (Day 1), week 96

Change from baseline (Day 1) to week 96 in alpha fetoprotein, biomarker hyaluronic acid, biomarker matrix metalloproteinase 9, biomarker procollagen 3 N-Terminal propeptide, biomarker tissue inhibitor of metalloproteinase 1, complement C3a and complement C5a is presented.

Change From Baseline in Clinical Laboratory Tests: C-Reactive ProteinBaseline (Day 1), week 96

Change from baseline (Day 1) to week 96 in C-reactive protein is presented.

Change From Baseline in Clinical Laboratory Tests: Complement BbBaseline (Day 1), week 96

Change from baseline (Day 1) to week 96 in complement Bb is presented.

Change From Baseline in Clinical Laboratory Tests: Complement Total (CH50)Baseline (Day 1), week 96

Change from baseline (Day 1) to week 96 in CH50 is presented.

Cohort 1: Change From Baseline in Serum Alpha-1 Antitrypsin (AAT) Protein ConcentrationsBaseline (Day 1), week 24

Change from baseline (Day 1) to week 24 in serum AAT protein concentrations in Cohort 1 is presented.

Cohort 2: Change From Baseline in Serum AAT Protein ConcentrationsBaseline (Day 1), week 48

Change from baseline (Day 1) to week 48 in serum AAT protein concentrations in Cohort 2 is presented.

Number of Treatment Emergent Adverse Events (TEAEs) and Serious Adverse Events (SAEs)Up to 2.6 years

Number of TEAEs and SAEs is presented. An adverse event (AE) was any untoward medical occurrence in a participant or clinical study participant, temporally associated with the use of study intervention, whether or not considered related to the study intervention. AEs were defined as TEAEs if they had a start date on or after the administration of study drug during the treatment period, or if they occurred prior to the administration of study drug and worsened in severity/grade or relationship to the study intervention after the administration of study intervention during the treatment period. A SAE was defined as any untoward medical occurrence that, at any dose: a) resulted in death, b) is life-threatening, c) required inpatient hospitalization or prolongation of existing hospitalization, d) resulted in persistent disability/incapacity, e) was a congenital anomaly/birth defect.

Number of Participants With TEAEs and SAEsUp to 2.6 years

Number of participants with TEAEs and SAEs is presented. An AE was any untoward medical occurrence in a participant or clinical study participant, temporally associated with the use of study intervention, whether or not considered related to the study intervention. AEs were defined as TEAEs if they had a start date on or after the administration of study drug during the treatment period, or if they occurred prior to the administration of study drug and worsened in severity/grade or relationship to the study intervention after the administration of study intervention during the treatment period. A SAE was defined as any untoward medical occurrence that, at any dose: a) resulted in death, b) is life-threatening, c) required inpatient hospitalization or prolongation of existing hospitalization, d) resulted in persistent disability/incapacity, e) was a congenital anomaly/birth defect.

Change From Baseline in Pulmonary Function Tests (PFTs): Forced Vital Capacity (FVC)Baseline (Day 1), week 96

Change in FVC from baseline (Day 1) to week 96 is presented. FVC is the maximal volume of air exhaled with maximally forced effort from a maximal inspiration, that is, VC performed with a maximally forced expiratory effort.

Change From Baseline in PFT: Forced Expiratory Volume in One Second (FEV1)Baseline (Day 1), week 96

Change in FEV1 from baseline (Day 1) to week 96 is presented. FEV1 is the maximal volume of air exhaled in the first second of a forced expiration from a position of full inspiration.

Change From Baseline in PFT: FEV1/FVC RatioBaseline (Day 1), week 96

Change in FEV1/FVC ratio from baseline (Day 1) to week 96 is presented. FEV1 is the maximal volume of air exhaled in the first second of a forced expiration from a position of full inspiration. FVC is the maximal volume of air exhaled with maximally forced effort from a maximal inspiration, that is, VC performed with a maximally forced expiratory effort.

Change From Baseline in PFT: Diffusing Capacity of the Lungs for Carbon Monoxide (DLCO)Baseline (Day 1), week 96

Change in DLCO from baseline (Day 1) to week 96 is presented. DLCO is a measure of the quantity of carbon monoxide (CO) transferred per minute from alveolar gas to red blood cells (specifically hemoglobin) in pulmonary capillaries. It is expressed as millimoles per minute per kilopascal (mmol/min/kPa).

Change From Baseline in 12 -Lead Electrochardiograms (ECGs): Mean Heart RateBaseline (Day 1), week 96

Change from baseline (Day 1) to week 96 in mean heart rate is presented.

Change From Baseline in 12 -Lead ECGs: Mean Ventricular RateBaseline (Day 1), week 96

Change from baseline (Day 1) to week 96 in mean ventricular rate is presented.

Change From Baseline in 12 -Lead ECGs: PR Interval, QRS Interval, QT Interval, QTcF Interval and RR IntervalBaseline (Day 1), week 96

Change from baseline (Day 1) to week 96 in PR interval, QRS interval, QT interval, QTcF interval and RR interval is presented.

Number of Participants With Physical Examination FindingsAt week 96

Number of participants with physical examination findings at week 96 is presented. The data is presented under categories:a) Normal, b) Abnormal, not clinically significant, c) Abnormal, clinically significant.

Change From Baseline in Vital Signs: Diastolic Blood Pressure and Systolic Blood PressureBaseline (Day 1), week 96

Change from baseline (Day 1) to week 96 in diastolic blood pressure and systolic blood pressure is presented.

Change From Baseline in Vital Signs: Heart RateBaseline (Day 1), week 96

Change from baseline (Day 1) to week 96 in heart rate is presented.

Vital Signs: Height at BaselineBaseline (Day 1)

Height at baseline is presented.

Change From Baseline in Vital Signs: Respiratory RateBaseline (Day 1), week 96

Change from baseline (Day 1) to week 96 in respiratory rate is presented.

Change From Baseline in Vital Signs: TemperatureBaseline (Day 1), week 96

Change from baseline (Day 1) to week 96 in temperature is presented.

Change From Baseline in Vital Signs: WeightBaseline (Day 1), week 96

Change from baseline (Day 1) to week 96 in weight is presented.

Change in Clinical Laboratory Tests: Alanine Aminotransferase, Alkaline Phosphatase, Aspartate Aminotransferase, Creatine Kinase, Glutamate Dehydrogenase, Lactate Dehydrogenase, Biomarker Creatine Kinase (M30) and Biomarker Creatine Kinase (M65)Baseline (Day 1), week 96

Change from baseline (Day 1) to week 96 in alanine aminotransferase, alkaline phosphatase, aspartate aminotransferase, creatine kinase, glutamate dehydrogenase, lactate dehydrogenase, biomarker creatine kinase (M30) and biomarker creatine kinase (M65) is presented.

Change From Baseline in Clinical Laboratory Tests: Albumin, Apolipoprotein A1, Protein, Biomarker HaptoglobinBaseline (Day 1), week 96

Change from baseline (Day 1) to week 96 in albumin, apolipoprotein A1, protein and biomarker haptoglobin is presented.

Change From Baseline in Clinical Laboratory Tests: Bilirubin, Creatinine and Direct BilirubinBaseline (Day 1), week 96

Change from baseline (Day 1) to week 96 in bilirubin, creatinine and direct bilirubin is presented.

Change From Baseline in Clinical Laboratory Tests: Chloride, Cholesterol, Glucose, Potassium, Sodium, Triglycerides and Urea NitrogenBaseline (Day 1), week 96

Change from baseline (Day 1) to week 96 in chloride, cholesterol, glucose, potassium, sodium, triglycerides and urea nitrogen is presented.

Change From Baseline in Clinical Laboratory Tests: Gamma Glutamyl TransferaseBaseline (Day 1), week 96

Change from baseline (Day 1) to week 96 in gamma glutamyl transferase is presented.

Secondary Outcome Measures
NameTimeMethod
Change From Baseline in Liver Fibrosis Ishak ScoreBaseline (Day 1), week 48

Change from Baseline up until week 48 in liver fibrosis based on Ishak score is presented. The Ishak staging system for liver fibrosis is a 1995 update to the algorithm initially developed by De Groote et al. Ishak scores range from 0 (no fibrosis) to 6 (cirrhosis) which are as follows: 0-no fibrosis, 1-fibrous expansion of some portal areas, with or without short fibrous septa, 2-Fibrous expansion of most portal areas, with or without short fibrous septa, 3-Fibrous expansion of most portal areas with occasional portal-to-portal bridging, 4-Fibrous expansion of portal areas with marked bridging (portal to portal as well as portal to central), 5-Marked bridging (portal-portal and/or portal-central) with occasional nodules (incomplete cirrhosis), 6-Cirrhosis, probable or definite.

Trial Locations

Locations (23)

Beaumont Hospital

🇮🇪

Dublin, Ireland

Auckland Clinical Studies

🇳🇿

Grafton, Auckland, New Zealand

Centro Hospitalar de Trás-os-Montes e Alto Douro, EPE

🇵🇹

Vila Real, Portugal

Hospital Universitario Marques de Valdecilla Santander

🇪🇸

Santander, Cantabria, Spain

CHU Bordeaux - Hopital Haut-Leveque - Centre François Magendie

🇫🇷

Pessac, France

University of Florida

🇺🇸

Gainesville, Florida, United States

Centre Hospitalier de l'Universite de Montreal (CHUM)

🇨🇦

Montreal, Quebec, Canada

Leiden University Medical Center

🇳🇱

Leiden, Netherlands

Universitaetsklinikum Aachen, AoeR

🇩🇪

Aachen, Germany

Waikato Hospital

🇳🇿

Hamilton, New Zealand

Leeds Teaching Hospitals NHS Trust

🇬🇧

Leeds, United Kingdom

Addenbrooke's Hospital, Cambridge University

🇬🇧

Cambridge, United Kingdom

Medizinische Universitaet Innsbruck

🇦🇹

Innsbruck, Austria

Centro Hospitalar Universitario de Sao Joao

🇵🇹

Porto, Portugal

Hospital Universitario La Paz

🇪🇸

Madrid, Spain

Royal Free London NHS Foundation Trust, Royal Free Hospital

🇬🇧

London, United Kingdom

University of California - San Diego

🇺🇸

La Jolla, California, United States

Medical University of South Carolina

🇺🇸

Charleston, South Carolina, United States

St Vincent's Hospital Melbourne

🇦🇺

Melbourne, Australia

Universitaire Ziekenhuizen Leuven

🇧🇪

Leuven, Belgium

CTC Clinical Trial Consultants AB Uppsala

🇸🇪

Uppsala, Sweden

Hospital da Senhora da Oliveira - Guimaraes

🇵🇹

Creixomil, Portugal

Universitaetsklinikum Schleswig-Holstein Campus Kiel

🇩🇪

Kiel, Germany

© Copyright 2025. All Rights Reserved by MedPath