Evaluation of Safety, Tolerability, and Efficacy of INZ-701 in Adults With ABCC6 Deficiency Causing PXE

This is an interventional treatment trial for ATP-Binding Cassette Subfamily C Member 6 Deficiency focused on measuring ATP-Binding Cassette Subfamily C Member 6 Deficiency, ABCC6, Pseudoxanthoma elasticum, PXE, Generalized Arterial Calcification of Infancy, GACI, hypopyrophosphatemia Read More

Inclusion Criteria

Individuals eligible to participate must meet all of the following inclusion criteria:

1. Must provide written or electronic consent after the nature of the study has been explained, and prior to any research-related procedures, following International Conference on Harmonisation (ICH) Good Clinical Practice (GCP)
2. Clinical diagnosis of pseudoxanthoma elasticum (PXE) supported by prior genetic identification of biallelic ABCC6 mutations (ie, homozygous or compound heterozygous)
3. Male or female, ages 18 to <70 years of age at Screening
4. PPi <1300 nM at Screening
5. Subjects who are being treated with statins or proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors must have been on treatment for at least 6 months prior to Screening and no new anti-lipid therapy can be introduced within 6 months of Screening
6. Women of child-bearing potential (WOCBP) must have a negative serum pregnancy test at Screening
7. WOCBP and partners of fertile males who are WOCBP must be using or agree to use one highly effective form of contraception (per CTFG 2020) and a barrier method from at least 1 month before the first dose of INZ-701 through 30 days after the last dose of INZ-701 (greater than 5 half-lives of INZ-701). WOCBP and partners of fertile males who are WOCBP must also agree to not donate ova from the period following the first dose of INZ-701 through 30 days after last dose of INZ-701.
8. Males who are sexually active must agree to use condoms from the period following first dose of INZ-701 through 30 days after the last dose of INZ-701. Males must also agree to not donate sperm from the period following the first dose of INZ-701 through 30 days after last dose of INZ-701.
9. In the opinion of the Investigator, must be willing and able to complete all aspects of the study
10. Agree to provide access to relevant medical records

Exclusion Criteria

Individuals who meet any of the following exclusion criteria will not be eligible to participate:

1. In the opinion of the Investigator, presence of any clinically significant disease (outside of those considered associated with the diagnosis of ABCC6 Deficiency) that precludes study participation or may confound interpretation of study results, including known uncontrolled thyroid, or unrelated connective tissue, bone, mineral, lipid, ophthalmologic, or muscle disease
2. Active retinal bleeding in both eyes during Screening
3. Clinically significant abnormal laboratory result at Screening, including but not limited to, eGFR <60 mL/min/1.73m2 (Chronic Kidney Disease-Epidemiology Collaboration equation) and 25-hydroxyvitamin D levels <12 ng/mL
4. Known active fungal, bacterial, and/or viral infection including human immunodeficiency virus (HIV), hepatitis B virus, hepatitis C virus, or COVID-19 virus
5. Malignancy within the last 5 years, except non-melanoma skin cancers or cervical carcinoma in situ
6. Known intolerance to INZ-701 or any of its excipients
7. Unable or unwilling to discontinue the use of any prohibited medication. Discontinuation should be undertaken only if considered not detrimental and indicated by the subject's treating physician.
8. Concurrent participation in another non-Inozyme interventional clinical study and/or receipt of any other investigational new drug within 5 half-lives of the last dose of the other investigational drug or from 4 weeks prior to the first dose of INZ-701, whichever is longer, or use of an investigational device through completion of participation in the study
9. Subjects who are pregnant, trying to become pregnant, or breastfeeding
10. Subjects who are trying to father a child