PROPEL - ENPP1およびABCC6欠損症を評価するための前向き観察患者登録

基本情報

NCT ID

NCT06302439

ステータス

募集中

試験のフェーズ

-

試験タイプ

観察

目標被験者数

1,000

治験依頼者名

Inozyme Pharma

概要

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.

対象疾患

介入

依頼者（Sponsor）

実施施設 (1)