Clinical trials: Asymptomatic Carrier State
Ornithine Transcarbamylase Deficiency
Study to Characterize Rate of Ureagenesis in Patients With Ornithine Transcarbamylase (OTC) Deficiency
The objectives of the study are to characterize urea production rates in patients with OTC, characterize the association of rate of ureagenesis and disease severity in OTC patients, characterize the association of rate of…
- Trial name
- NCT04717453
- Testing
- No Intervention
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
Hereditary Amyloidosis, Transthyretin-Related, Asymptomatic Carrier State
Observational Study of Neurofilament Light Chain (NfL) as a Biomarker in Asymptomatic Carriers of the Transthyretin (TTR) Variants and Patients With Hereditary Transthyretin-mediated (hATTR) Amyloidosis With Polyneuropathy
This is a single-center observational study evaluating the potential value of NfL as a biomarker for diagnosis, detection of disease onset, monitoring of disease progression, and treatment response in asymptomatic carriers of TTR…
- Trial name
- NCT06360289
- Testing
- Standard of Care
- Where
- France
- Volunteers
- 346 people, healthy volunteers welcome
- Sponsor
- Alnylam Pharmaceuticals