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Found 4 clinical trials
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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 …

  • 19 views
  • 12 Sep, 2021
  • 12 locations
None
In Utero Enzyme Replacement Therapy for Lysosomal Storage Diseases

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.

  • 0 views
  • 18 Apr, 2021
  • 1 location
None
Glycerol Phenylbutyrate Corrector Therapy For CF (Cystic Fibrosis)

We propose to test the effectiveness of the combination of CF pancreatic enzyme replacement therapy (PERT) on absorption of Ravicti and subsequent restoration of nasal epithelial cystic fibrosis transmembrane conductance regulator (CFTR)-mediated chloride transport during the nasal potential difference (NPD) test. Funding source FDA Office of Orphan Products Development.

oximetry
pancreatic enzyme replacement therapy
spirometry
antibiotic therapy
bronchodilator
  • 27 views
  • 17 Mar, 2021
  • 4 locations
None
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 …

  • 0 views
  • 28 Apr, 2021
  • 1 location