Inozyme Pharma Inc.

Address: 321 Summer Street

Sponsor Overview

assignment

Specializations

ENPP1 deficiency and ABCC6 deficiency

Inozyme Pharma Inc. focuses on inherited disorders linked to disrupted pyrophosphate metabolism, with research centered on ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) deficiency and ATP-binding cassette sub-family C member 6 (ABCC6) deficiency. Its clinical program addresses both isolated and overlapping forms of these rare mineralization disorders.

ENPP1 deficiency
ABCC6 deficiency
Combined ENPP1 or ABCC6 deficiency

The research activity in this area is directed toward conditions associated with abnormal tissue calcification and impaired regulation of inorganic pyrophosphate (PPi).

Generalized arterial calcification of infancy

Clinical research includes generalized arterial calcification of infancy (GACI), a severe pediatric calcification disorder linked to early vascular involvement. The sponsor’s trials examine disease manifestations in infants affected by ENPP1-related pathology.

Infantile arterial calcification
Vascular mineralization
Cardiovascular calcification disorders

This area reflects a therapeutic interest in rare childhood conditions with progressive arterial and cardiac complications.

Pseudoxanthoma elasticum

Another major focus is pseudoxanthoma elasticum (PXE), a hereditary disorder characterized by abnormal mineralization of elastic tissues. The sponsor’s studies extend to the cutaneous, ocular, and vascular consequences of this condition.

Pseudoxanthoma elasticum (PXE)
Elastic tissue calcification
Hereditary mineralization disorders

Research in PXE aligns with a broader interest in diseases involving ectopic calcification and connective tissue involvement.

Bone and skeletal abnormalities

The sponsor also studies skeletal manifestations associated with ENPP1 deficiency, including abnormalities of bone development and mineralization. Trial activity includes assessment of skeletal abnormalities and related structural outcomes in pediatric patients.

Skeletal mineralization defects
Bone development abnormalities
Pediatric skeletal disease

This therapeutic domain connects rare genetic calcification disorders with musculoskeletal involvement.

Cardiovascular and survival outcomes

Several studies address the cardiovascular consequences of ENPP1 deficiency, including heart dysfunction, arterial calcification, and survival-related outcomes in infants and children. The research portfolio includes monitoring of overall survival alongside measures of cardiovascular disease burden.

Heart dysfunction
Arterial calcification
Survival in pediatric rare disease

These investigations place emphasis on severe early-onset complications of mineralization disorders affecting the cardiovascular system.

Trial Name	Country	Status
Evaluation of INZ-701 Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics in Infants with ENPP1 or ABCC6 Deficiency	Spain	Not Recruiting
Long-term Safety Evaluation of INZ-701 in Patients with ENPP1 and ABCC6 Deficiencies: A Follow-up Study	France Germany	Not Recruiting
Phase 3 Evaluation of INZ-701 Efficacy and Safety in Pediatric Ectonucleotide Pyrophosphatase/Phosphodiesterase 1 Deficiency	France Spain	Not Recruiting
Phase 3 Evaluation of INZ-701 for Efficacy and Safety in Infants with Ectonucleotide Pyrophosphatase/Phosphodiesterase 1 Deficiency	France Hungary Italy Spain Sweden	Not Recruiting