Page last updated: 2024-10-21

urea and Orphan Diseases

urea has been researched along with Orphan Diseases in 4 studies

pseudourea: clinical use; structure
isourea : A carboximidic acid that is the imidic acid tautomer of urea, H2NC(=NH)OH, and its hydrocarbyl derivatives.

Orphan Diseases: Rare diseases that have not been well studied.

Research Excerpts

ExcerptRelevanceReference
" Four Phase 1 studies were conducted to characterize the bioavailability (BA) and/or bioequivalence (BE) of ACER-001 (in healthy volunteers) and taste assessment relative to NaPBA powder (in taste panelists)."1.91Taste-masked formulation of sodium phenylbutyrate (ACER-001) for the treatment of urea cycle disorders. ( Cederbaum, SD; Edwards, J; Kellmeyer, T; Peters, Y; Steiner, RD, 2023)
"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."1.51Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-A successful strategy for clinical research of rare diseases. ( Batshaw, ML; Baumgartner, MR; Boy, N; Burgard, P; Burlina, AB; de Lonlay, P; Dionisi-Vici, C; Dobbelaere, D; Garbade, SF; Garcia-Cazorla, A; Hoffmann, GF; Kölker, S; McCandless, SE; Mew, NA; Posset, R; Seminara, J; Summar, M; Teles, EL; Vara, R, 2019)

Research

Studies (4)

TimeframeStudies, this research(%)All Research%
pre-19901 (25.00)18.7374
1990's0 (0.00)18.2507
2000's1 (25.00)29.6817
2010's1 (25.00)24.3611
2020's1 (25.00)2.80

Authors

AuthorsStudies
Cederbaum, SD2
Edwards, J1
Kellmeyer, T1
Peters, Y1
Steiner, RD1
Posset, R1
Garbade, SF1
Boy, N1
Burlina, AB1
Dionisi-Vici, C1
Dobbelaere, D1
Garcia-Cazorla, A1
de Lonlay, P1
Teles, EL1
Vara, R1
Mew, NA1
Batshaw, ML2
Baumgartner, MR1
McCandless, SE1
Seminara, J1
Summar, M1
Hoffmann, GF1
Kölker, S1
Burgard, P1
Tuchman, M1
Lee, B1
Lichter-Konecki, U1
Summar, ML1
Yudkoff, M1
Kerr, DS1
Diaz, GA1
Seashore, MR1
Lee, HS1
McCarter, RJ1
Krischer, JP1
WITTENHAGEN, G1
MOHNIKE, G1
LANGENBECK, W1

Clinical Trials (1)

Trial Overview

TrialPhaseEnrollmentStudy TypeStart DateStatus
Longitudinal Study of Urea Cycle Disorders[NCT00237315]1,009 participants (Anticipated)Observational2006-02-28Recruiting
[information is prepared from clinicaltrials.gov, extracted Sep-2024]

Other Studies

4 other studies available for urea and Orphan Diseases

ArticleYear
Taste-masked formulation of sodium phenylbutyrate (ACER-001) for the treatment of urea cycle disorders.
    Molecular genetics and metabolism, 2023, Volume: 138, Issue:4

    Topics: Humans; Hyperammonemia; Nitrogen; Phenylbutyrates; Powders; Rare Diseases; Taste; Urea; Urea Cycle D

2023
Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-A successful strategy for clinical research of rare diseases.
    Journal of inherited metabolic disease, 2019, Volume: 42, Issue:1

    Topics: Cohort Studies; Data Analysis; Delayed Diagnosis; Europe; Female; Humans; Infant, Newborn; Male; Neo

2019
Cross-sectional multicenter study of patients with urea cycle disorders in the United States.
    Molecular genetics and metabolism, 2008, Volume: 94, Issue:4

    Topics: Adolescent; Adult; Aged; Aged, 80 and over; Amino Acid Metabolism, Inborn Errors; Amino Acids; Child

2008
[Contributions to the degradation of N-(4-methylbenzenesulfonyl)-N'-butylurea (D-860) and the separation of the products formed].
    Hoppe-Seyler's Zeitschrift fur physiologische Chemie, 1959, Oct-30, Volume: 316

    Topics: Rare Diseases; Retinal Degeneration; Retinal Detachment; Tolbutamide; Urea

1959