Filter By
Clear all Advanced
I am/have/had
added new label for I am/have/had
I am looking for
added new label for I am looking for
Advanced Filters
Found 3 clinical trials
Pegtibatinase as an Enzyme Therapy for Patients With Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency (COMPOSE)

Homocystinuria caused by Cystathionine Beta-Synthase (CBS) Deficiency is a rare autosomal-recessive metabolic condition characterized by an excess of homocysteine (Hcy) in the plasma, tissues and urine. It is due to reduced or absent activity of the CBS enzyme, and is also known as classical homocystinuria. The symptoms associated with homocystinuria …

  • 28 Jul, 2022
  • 6 locations
In Utero Enzyme Replacement Therapy for Lysosomal Storage Diseases (IUERT)

The investigators aims to determine the the maternal and fetal safety and feasibility of in utero fetal enzyme replacement therapy in fetuses with Lysosomal Storage Diseases.

replacement therapy
  • 15 May, 2022
  • 1 location
Early Detection and Follow-Up of Patients With Fabry's Disease

This research project will serve on the enhancement of early detection, diagnosis and follow-up of patients with Fabry Disease, through new biomarkers identification. This could have straight clinical impact on: Early diagnosis, follow-up, and prediction of treatment response. Suggestion about the optimal time to start treatment. The data obtained will …

  • 28 Apr, 2021
  • 1 location