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OTC Deficiency clinical trials

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NCT ID: NCT05526066 Recruiting - Clinical trials for Ornithine Transcarbamylase Deficiency

Study for Adolescent and Adult Participants With Ornithine Transcarbamylase Deficiency to Evaluate Safety and Tolerability of ARCT-810

Start date: July 6, 2022
Phase: Phase 2
Study type: Interventional

The primary objective is to evaluate the safety and tolerability of repeated doses of intravenously administered ARCT-810.

NCT ID: NCT05345171 Recruiting - OTC Deficiency Clinical Trials

Clinical Study of DTX301 AAV- Mediated Gene Transfer for Ornithine Transcarbamylase(OTC) Deficiency

Start date: October 18, 2022
Phase: Phase 3
Study type: Interventional

The primary objective is to evaluate the efficacy of DTX301 on the improvement of ornithine transcarbamylase (OTC) function by maintaining safe plasma ammonia levels with removal of dietary protein restriction and alternative pathway medication.

NCT ID: NCT04248062 Completed - Phenylketonurias Clinical Trials

Patient and Observer Reported Outcome Measurements in Inborn Errors of Metabolism

MetaPROM
Start date: August 1, 2019
Phase:
Study type: Observational

lnborn errors of metabolism (IEM) are a heterogeneous group of rare, sometimes debilitating or even fatal diseases . In IEM, both definition and assessment of meaningful outcome parameters is often extremely difficult resulting in a limited body of evidence. Limited evidence results in weak recommendations which are perceived as unbinding and thus sustains heterogeneous study designs, choice of outcomes and interventions again producing non-uniform data. The goal of the current study is to identify and select reliable instruments, that measure patients' and their parents' perception about relevant (social, emotional, cognitive and physical) aspects in their lives. This set of instruments will secure the comparability of future research findings. Furthermore this instruments will improve the screening of paediatric IEM patients regarding their need for additional (psychosocial or consultative) support in daily hospital routine.