Metabolic Clinical Studies & Trials
ALXN1101 in Neonates with Molybdenum Cofactor Deficiency Type A
ASCEND– Olipudase alfa in Niemann Pick B
COMPASS – Ataluren in Mucopolysaccharidosis Type I
Database Development for Newborn Screening Disorders.
Executive and social functioning in patients with Tyrosinemia Type 1
High Dose Genistein in Sanfilippo Syndrome
Immune Tolerance Induction in Hurler Syndrome (ITIMHS)
LAL-CL08: Sebelipase alfa in rapidly progressive lysosomal acid lipase deficiency
Morquio A Registry Study\ (MARS)
Neurological Disease Severity Assessment Study
SHP-609-302 – Intrathecal idursulfase in Hunter Syndrome
VITAL (SurVival of Lysosomal Acid Lipase Deficiency (LAL-D) Infants Treated With SebelipAse aLfa)
Wearable technology to monitor paediatric diseases