Condition: Ectonucleotide Pyrophosphatase/Phosphodiesterase 1 Deficiency · ATP-Binding Cassette Subfamily C Member 6 Deficiency · Sponsor: Inozyme Pharma
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.
This description comes directly from the study's public registry record.
Jelena Garafalo, Ph.D · (857) 330-4340 · jelena.garafalo@inozyme.com
Always discuss trial participation with your own doctor first.
| Ann and Robert H. Lurie Children's Hospital | Chicago, Illinois, United States | Recruiting |
| Boston Children's Hospital | Boston, Massachusetts, United States | Recruiting |
| Mayo Clinic | Rochester, Minnesota, United States | Recruiting |
| CLINILABS Drug Development Corp | Eatontown, New Jersey, United States | Recruiting |
| The Children's Hospital of Philadelphia (CHOP) | Philadelphia, Pennsylvania, United States | Recruiting |
| CHU Sainte-Justine Research Centre | Montreal, Quebec, Canada | Recruiting |
| Universitätsklinikum Hamburg-Eppendorf | Hamburg, Germany | Recruiting |
| IRCCS San Raffaele Hospital - Main | Milan, Italy | Recruiting |
| The University of Tokyo Hospital | Tokyo, Japan | Recruiting |
| Royal Hospital Muscat | Muscat, Oman | Recruiting |
| EU Hub - VCTC | Barcelona, Spain | Recruiting |
| Hospital Sant Joan de Deu | Barcelona, Spain | Recruiting |
+ 2 more locations — full list on the registry record.
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Source record: clinicaltrials.gov/study/NCT06302439