Autosomal Recessive Hypophosphatemic Rickets, Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency, Generalized Arterial Calcification of Infancy 1
Conditions
Keywords
Generalized Arterial Calcification of Infancy, GACI, Autosomal Recessive Hypophosphatemic Rickets Type 2, ARHR2
Brief summary
The primary purpose of ENERGY 2 (Study INZ701-105) is to assess the efficacy and safety of INZ-701 in infants with ENPP1 Deficiency.
Detailed description
ENPP1 Deficiency is an ultra-rare genetic disorder in which inactivating mutations in the ENPP1 gene lead to a deficiency in the ENPP1 enzyme. ENERGY 2 (Study INZ701-105) is a multicenter, single-arm, open-label Phase 3 study to assess the efficacy and safety of INZ-701 in infants with ENPP1 Deficiency. The study will consist of a Screening Period of up to 60 days, a Treatment Period of 52 weeks, a 52-week Extension Period, and an End of Treatment (EOT) Visit 30 days after the last dose of INZ-701.
Interventions
DRUGINZ-701
Recombinant fusion protein that contains the extracellular domains of human ENPP1 coupled with an Fc fragment from an immunoglobulin gamma-1 (IgG1) antibody.
Sponsors
Inozyme Pharma
BioMarin Pharmaceutical
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
NONE
Intervention model description
ENERGY 2 (Study INZ701-105) is a multicenter, single-arm, open-label Phase 3 study to assess the efficacy and safety of INZ-701 in infants with ENPP1 Deficiency.
Eligibility
Sex/Gender
ALL
Age
0 Years to 1 Years
Healthy volunteers
No
Inclusion criteria
Participants must meet all of the following: Inclusion Criteria: 1. Infant aged ≤ 1 year at the time of enrollment. 2. Confirmed diagnosis of ENPP1 deficiency, based on genetic testing. 3. Clinical features consistent with generalized arterial calcification of infancy (GACI) (e.g., vascular calcification or cardiac involvement). 4. Medically stable to participate in a 52-week treatment study. 5. Written informed consent provided by a parent or legal guardian.
Exclusion criteria
Participants will not be eligible if any of the following apply: 1. Receiving end-of-life or hospice care. 2. Prior treatment with INZ-701, unless received through an approved expanded access program. 3. Concurrent participation in another interventional clinical trial. 4. Planned major surgery during the study period that would interfere with study participation.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| To determine if INZ-701 increases inorganic pyrophosphate (PPi) levels | 52 weeks (Baseline through Week 52) | For each subject, their change from baseline in Plasma Inorganic Pyrophosphate (PPi) concentration will be assessed. |
| To determine if INZ-701 increases overall survival | 52 weeks (Baseline through Week 52) | For each subject, their change in overall survival based on time from date of birth to event of all-cause mortality will be assessed. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| To determine if INZ-701 prevents decline in cardiac ejection fraction | 52 weeks (Baseline through Week 52) | For each subject, their change from baseline in left ventricular ejection fraction will be assessed via echocardiography. |
| To determine if INZ-701 prevents heart failure | 52 weeks (Baseline through Week 52) | For each subject, their incidence of heart failure will be assessed. |
| To determine if INZ-701 attenuates progression of arterial calcification | 52 weeks (Baseline through Week 52) | For each subject, their change from baseline in vascular calcification in the coronary arteries and aorta will be examined via CT scan. |
Countries
Brazil, France, Hungary, Italy, Saudi Arabia, Spain, Turkey (Türkiye), United Kingdom
Contacts
STUDY_DIRECTORMedical Director, MD
BioMarin Pharmaceutical
Outcome results
None listed