ATP-Binding Cassette Subfamily C Member 6 Deficiency

2

Review clinical trials related to ATP-Binding Cassette Subfamily C Member 6 Deficiency. Use filters to narrow results by trial status, phase, treatment, biological sex and sponsor.

Condition / disease
Location
Status: Recruiting

The ENERGY Study: Evaluation of Safety and Tolerability of INZ-701 in Infants With ENPP1 Deficiency or ABCC6 Deficiency

The primary purpose of Study INZ701-104 (the ENERGY study) is to assess the safety and tolerability of INZ-701 in infants with ENPP1 Deficiency or with ABCC6 Deficiency.

Participants needed: 16
Trial details
Phase: Phase 1Age: Up to 1Biological sex: AllType: InterventionalSponsor: Inozyme PharmaUpdated: Mar 24, 2026Locations: 7
Eligibility criteria

Infant aged ≤ 1 year at the time of enrollment [+4]

In the opinion of the Investigator, presence of any clinically significant disea... [+4]

Status: Recruiting

PROPEL - A Prospective Observational Patient Registry to Evaluate ENPP1 and ABCC6 Deficiency

The purpose of this prospective registry is to characterize the natural history of ectonucleotide pyrophosphatase/phosphodiesterase1(ENPP1) Deficiency and the infantile-onset form of adenosine triphosphate (ATP) binding cassette transporter protein subfamily C member 6 (ABCC6) Deficiency longitudinally. The registry will prospectively gather information about the genetic, biochemical, physiological, anatomic, radiographic, and functional manifestations (including patient reported outcomes \[PROs\]) of each disease during routine, standard-of-care visits, with the aim of developing a comprehensive understanding of the burden of illness and progressive nature of the disease.

Participants needed: 1,000
Trial details
Biological sex: AllType: ObservationalSponsor: Inozyme PharmaUpdated: Dec 22, 2025Locations: 14Duration: 10 Years
Eligibility criteria

Must provide written or electronic consent after the nature of the registry has... [+3]

Participant or their legally designated representative does not have the cogniti... [+2]