Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-A successful strategy for clinical research of rare diseases.

ABSTRACT:

Background

To improve our understanding of urea cycle disorders (UCDs) prospectively followed by two North American (NA) and European (EU) patient cohorts.

Aims

Description of the NA and EU patient samples and investigation of the prospects of combined and comparative analyses for individuals with UCDs.

Methods

Retrieval and comparison of the data from 1095 individuals (NA: 620, EU: 475) from two electronic databases.

Results

The proportion of females with ornithine transcarbamylase deficiency (fOTC-D), particularly those being asymptomatic (asfOTC-D), was higher in the NA than in the EU sample. Exclusion of asfOTC-D resulted in similar distributions in both samples. The mean age at first symptoms was higher in NA than in EU patients with late onset (LO), but s

SUBMITTER: Posset R 

PROVIDER: S-EPMC7329920 | biostudies-literature | 2019 Jan

REPOSITORIES: biostudies-literature