Page last updated: 2024-10-20

pyridoxine and Orphan Diseases

pyridoxine has been researched along with Orphan Diseases in 2 studies

4,5-bis(hydroxymethyl)-2-methylpyridin-3-ol: structure in first source
vitamin B6 : Any member of the group of pyridines that exhibit biological activity against vitamin B6 deficiency. Vitamin B6 deficiency is associated with microcytic anemia, electroencephalographic abnormalities, dermatitis with cheilosis (scaling on the lips and cracks at the corners of the mouth) and glossitis (swollen tongue), depression and confusion, and weakened immune function. Vitamin B6 consists of the vitamers pyridoxine, pyridoxal, and pyridoxamine and their respective 5'-phosphate esters (and includes their corresponding ionized and salt forms).

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

Research Excerpts

ExcerptRelevanceReference
"To facilitate clinical research on pyridoxine-dependent seizures (PDS), a rare disease registry was established for affected patients in the United States and Canada."7.75Clinical features and the management of pyridoxine-dependent and pyridoxine-responsive seizures: review of 63 North American cases submitted to a patient registry. ( Basura, GJ; Gospe, SM; Hagland, SP; Wiltse, AM, 2009)
"To facilitate clinical research on pyridoxine-dependent seizures (PDS), a rare disease registry was established for affected patients in the United States and Canada."3.75Clinical features and the management of pyridoxine-dependent and pyridoxine-responsive seizures: review of 63 North American cases submitted to a patient registry. ( Basura, GJ; Gospe, SM; Hagland, SP; Wiltse, AM, 2009)

Research

Studies (2)

TimeframeStudies, this research(%)All Research%
pre-19901 (50.00)18.7374
1990's0 (0.00)18.2507
2000's1 (50.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Basura, GJ1
Hagland, SP1
Wiltse, AM1
Gospe, SM1
DERITIS, GC1
CATTANEO, C1
FANTOLI, U1

Clinical Trials (1)

Trial Overview

TrialPhaseEnrollmentStudy TypeStart DateStatus
Standardized Evaluation of Long-term Neurocognitive Development of Children From Age 3 With Pyridoxine Dependent Epilepsy by Antiquitine Deficiency[NCT06054347]30 participants (Anticipated)Observational2023-11-01Not yet recruiting
[information is prepared from clinicaltrials.gov, extracted Sep-2024]

Other Studies

2 other studies available for pyridoxine and Orphan Diseases

ArticleYear
Clinical features and the management of pyridoxine-dependent and pyridoxine-responsive seizures: review of 63 North American cases submitted to a patient registry.
    European journal of pediatrics, 2009, Volume: 168, Issue:6

    Topics: Canada; Humans; Metabolism, Inborn Errors; Pyridoxine; Rare Diseases; Registries; Seizures; United S

2009
[METABOLISM OF ISONICOTINIC ACID HYDRAZIDE. IV. IDENTIFICATION, SEPARATION AND DETERMINATION, USING PAPER CHROMATOGRAPHY, OF VARIOUS METABOLIC PRODUCTS OF ISONIAZID AND VARIOUS PYRIDOXINE DERIVATIVES PRESENT IN THE URINE].
    Annali dell'Istituto "Carlo Forlanini", 1963, Volume: 23

    Topics: Biomedical Research; Chromatography; Chromatography, Paper; Isoniazid; Metabolism; Pyridoxal Phospha

1963