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

Conditions

• ATP-Binding Cassette Subfamily C Member 6 Deficiency
• Ectonucleotide Pyrophosphatase/Phosphodiesterase 1 Deficiency

Eligibility Criteria

Sex

ALL

Age

N/A - N/A

Healthy Volunteers

Not accepted

Interventions

• No Intervention for this observational study — OTHER
  No Intervention for this observational study

Study Details

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.

Key Dates

Start date

Jul 25, 2024

Status verified

Dec 2025

Primary completion

May 31, 2034

Completion

May 31, 2034

Study Design

Enrollment

1,000 participants (estimated)

Primary Outcome Measure

Characterization of the natural history of ENPP1 Deficiency and the infantile-onset form of ABCC6 Deficiency longitudinally [ Time Frame: Annually up to 10 years ]

Central Contacts

• Jelena Garafalo, Ph.D
  (857) 330-4340
  [email protected]

Locations (5)

Find similar trials in Chicago, IL

Related Studies

• The ENERGY Study: Evaluation of Safety and Tolerability of INZ-701 in Infants With ENPP1 Deficiency or ABCC6 Deficiency
  PHASE1 · Recruiting · Inozyme Pharma · San Diego, California