Carbamoyl phosphate synthetase I deficiency disease

Clinical trials for Carbamoyl phosphate synthetase I deficiency disease explained in plain language.

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Newborn screening study aims to catch rare diseases at birth

Diagnosis Ongoing

This study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

Matched conditions: CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY DISEASE

Sponsor: RTI International • Aim: Diagnosis

Last updated Jul 03, 2026 00:00 UTC

Carbamoyl phosphate synthetase I deficiency disease

Get alerted when new Carbamoyl phosphate synthetase I deficiency disease trials appear

Newborn screening study aims to catch rare diseases at birth