PROPEL - A Prospective Observational Patient Registry to Evaluate ENPP1 and ABCC6 Deficiency
A Prospective Observational Patient Registry to Evaluate Disease Progression in Patients With ENPP1 Deficiency and Infantile-Onset ABCC6 Deficiency (GACI Type 2)
Inozyme Pharma
1,000 participants
Jul 25, 2024
OBSERVATIONAL
Conditions
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
Inclusion Criteria16
- 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
Exclusion Criteria3
- 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
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Interventions
No Intervention for this observational study
Locations(14)
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NCT06302439