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

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Trial Status Recruiting

Trial Identifier

NCT06302439

Condition

ENPP1 Deficiency, ABCC6 Deficiency, Ectonucleotide Pyrophosphatase/Phosphodiesterase 1 Deficiency, ATP-Binding Cassette Subfamily C Member 6 Deficiency

The below information is taken directly from public registry websites such as ClinicalTrials.gov, EuClinicalTrials.eu, ISRCTN.com, etc. and has not been edited.

Trial Summary

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.

Eligibility Criteria

Birth Sex

All

Age

Any

Healthy Volunteers

No

Drug/Treatment:

No Intervention for this observational study

Study Type:

Observational

Number of Participants:

1000

Study Started:

2024-07-25

Study Updated:

2025-12-22

Trial Locations

Inclusion Criteria

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

1. 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)
2. Agree to provide access to relevant medical records
3. One of the following genetic or clinical criteria

1. 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
2. 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

Exclusion Criteria

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

1. Participant or their legally designated representative does not have the cognitive capacity to provide informed consent
2. 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

1. 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

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