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tyrosinemia Clinical Trials

A listing of tyrosinemia medical research trials actively recruiting patient volunteers. Search for closest city to find more detailed information on a research study in your area.

Found 4 clinical trials
A Anita MacDonald

Evaluation of the Express Plus Range

A prospective, open label, acceptability study to evaluate PKU, MSUD, HCU, TYR and GA express plus in the dietary management of 40 patients with IEM. The following parameters will be assessed: adherence to prescribed dietary intakes, palatability, usability, gastrointestinal tolerance, clinically relevant routine biochemical parameters, timeframe to transition and contribution …

3 - 100 years of age Both Phase N/A
Z Zhanna T. Zhusupova, MD

Selective Screening of Children for Hereditary Metabolic Diseases by Tandem Mass Spectrometry in Kazakhstan

Inborn errors of metabolism (IEM) are not have specific clinical signs, they masquerade as other diseases, and are difficult to diagnose using only clinical manifestations or routine laboratory tests. IEM most commonly manifest in early infancy and childhood. Despite the fact that most IEM are rare in the population, they …

1 - 18 years of age Both Phase N/A
L Laurent Servais, MD, PhD

Baby Detect : Genomic Newborn Screening

Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions. With a simple blood test, rare genetic conditions can be easily detected, and the early start of transformative treatment will help avoid severe disabilities and increase the quality of …

- 28 years of age Both Phase N/A

A Non-interventional, Post-Marketing Study to Describe Outcome of Nitisinone Treatment in HT-1 Patients

This is a prospective, non-interventional, non-comparative, multicenter study to collect data on HT-1 patients in China treated with Nitisinone in a routine clinical setting. No tests or examinations are mandated in the study.

- 100 years of age Both Phase N/A

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