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.
- EligibilityCriteria: Inclusion Criteria:  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  Exclusion Criteria:  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 - HealthyVolunteers: No - Gender: All - StdAgeList: Child, Adult, Older Adult - StudyPopulation: Evidence of biallelic ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) variants in ENPP1 Deficiency  or  Evidence of monoallelic ENPP1 variants and disease-related symptoms  or  Infantile onset with biallelic adenosine triphosphate (ATP) binding cassette transporter protein subfamily C member 6 (ABCC6) variants in participants aged <18 years. - SamplingMethod: Non-Probability Sample