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

Recruiting now

Conditions studied: Ectonucleotide Pyrophosphatase/Phosphodiesterase 1 Deficiency, ATP-Binding Cassette Subfamily C Member 6 Deficiency

In brief

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 facts

Study ID

NCT06302439

Run by

Inozyme Pharma

People needed

1000

Starts

2024-07-25

Expected to finish

2034-05-01

Last updated by the study team

2025-12-22

Who can join

Age: any. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• Individuals eligible to participate must meet all the following inclusion criteria:
• Must provide written or electronic consent after the nature of the registry has been explained, and prior to any research-related procedures, per International Council for Harmonisation (ICH) Good Clinical Practice (GCP)
• Agree to provide access to relevant medical records
• One of the following genetic or clinical criteria
• A confirmed prenatal or postnatal molecular genetic diagnosis of ENPP1 Deficiency with biallelic mutations (ie, homozygous or compound heterozygous) performed by a College of American Pathologists/Clinical Laboratory Improvement Amendments (CAP/CLIA) certified laboratory or regional equivalent
• OR
• Monoallelic ENPP1 mutation confirmed by a certified CAP/CLIA laboratory or regional equivalent and any of the following clinical symptoms:
• i. ≥ 1 traumatic vertebral fracture
• ii. ≥ 2 fractures as an adult (eg, long-bones, digits, vertebrae)
• iii. Low bone mineral density (dual-energy X-ray absorptiometry [DXA] Z-score <1.5) and <55 years of age
• iv. Bone or joint pain interfering with movement or daily activities
• v. History of myocardial infarction (MI), unstable angina, transient ischemic attack (TIA) or low cardiac output before the age of 40 yrs.
• vi. History of rickets or bone deformity
• vii. Diagnosis of ossification of the posterior longitudinal ligament (OPLL)
• viii. Other clinical symptoms, with approval by Inozyme
• OR
• c. A confirmed prenatal or postnatal molecular genetic diagnosis of ABCC6 Deficiency with biallelic mutations confirmed by a certified CAP/CLIA laboratory or regional equivalent, and <18 years of age

You may not qualify if…

• Individuals who meet the following exclusion criteria will not be eligible to participate:
• Participant or their legally designated representative does not have the cognitive capacity to provide informed consent
• Patients who are currently participating in an INZ-701 interventional clinical study, with the exception of expanded access programs and long-term safety follow-up studies
• Participants in interventional studies may be approached for inclusion in the registry once their involvement in the treatment period of the clinical study has been completed

Where it is running

• Ann and Robert H. Lurie Children's Hospital — Chicago, Illinois, United States (enrolling)
• Boston Children's Hospital — Boston, Massachusetts, United States (enrolling)
• Mayo Clinic — Rochester, Minnesota, United States (enrolling)
• CLINILABS Drug Development Corp — Eatontown, New Jersey, United States (enrolling)
• The Children's Hospital of Philadelphia (CHOP) — Philadelphia, Pennsylvania, United States (enrolling)
• CHU Sainte-Justine Research Centre — Montreal, Quebec, Canada (enrolling)
• Universitätsklinikum Hamburg-Eppendorf — Hamburg, Germany (enrolling)
• IRCCS San Raffaele Hospital - Main — Milan, Italy (enrolling)
• The University of Tokyo Hospital — Tokyo, Japan (enrolling)
• Royal Hospital Muscat — Muscat, Oman (enrolling)
• EU Hub - VCTC — Barcelona, Spain (enrolling)
• Hospital Sant Joan de Deu — Barcelona, Spain (enrolling)
• Umraniye Training and Research Hospital — Istanbul, Turkey (Türkiye) (enrolling)
• VCTC — Derby, United Kingdom (enrolling)

Full record on ClinicalTrials.gov

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