A Prospective Observational Patient Registry to Evaluate Disease Progression in Patients With ENPP1 Deficiency and Infantile-Onset ABCC6 Deficiency (GACI Type 2)
Inozyme Pharma
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.
Description
ENPP1 Deficiency is a rare, genetic disorder caused by inactivating mutations in the ENPP1 gene that encodes the ENPP1 enzyme. Infantile-onset ENPP1 Deficiency has a high mortality (approximately 50%) in the first 0 to 6 months of life, a result of downstream cardiopulmonary complications. Pediatric patients with ENPP1 Deficiency typically experience rickets, a condition also known as autosomal-recessive hypophosphatemic rickets type 2 (ARHR2), while adults experience osteomalacia (softened bones), and they can exhibit a range of signs and symptoms that include hearing loss, arterial calcifica…
Eligibility
- Age range
- Not specified
- Sex
- All
- Healthy volunteers
- No
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) perfor…
Interventions
- OtherNo Intervention for this observational study
No Intervention for this observational study
Locations (14)
- Ann and Robert H. Lurie Children's HospitalChicago, Illinois
- Boston Children's HospitalBoston, Massachusetts
- Mayo ClinicRochester, Minnesota
- CLINILABS Drug Development CorpEatontown, New Jersey
- The Children's Hospital of Philadelphia (CHOP)Philadelphia, Pennsylvania
- CHU Sainte-Justine Research CentreMontreal, Quebec