NCT00004442

Brief Summary

OBJECTIVES: I. Determine the effectiveness of oral bile acid therapy with cholic acid, chenodeoxycholic acid, and ursodeoxycholic acid in patients with peroxisomal disorders involving impaired primary bile acid synthesis. II. Determine whether suppression of synthesis of atypical bile acids and enrichment of bile acid pool with this regimen is effective in treating this patient population and improving quality of life.

Trial Health

10
At Risk

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
25

participants targeted

Target at below P25 for not_applicable

Status
terminated

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

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Study Timeline

Key milestones and dates

Study Completion

Last participant's last visit for all outcomes

April 1, 1999

Completed
7 months until next milestone

First Submitted

Initial submission to the registry

October 18, 1999

Completed
1 day until next milestone

First Posted

Study publicly available on registry

October 19, 1999

Completed
Last Updated

March 25, 2015

Status Verified

November 1, 2000

First QC Date

October 18, 1999

Last Update Submit

March 24, 2015

Conditions

Infantile Refsum's DiseaseZellweger SyndromeBifunctional Enzyme DeficiencyAdrenoleukodystrophy

Keywords

Zellweger syndromeadrenoleukodystrophybifunctional enzyme deficiencyinborn errors of metabolisminfantile Refsum's diseaseperoxisomal disorderspseudo-Zellweger syndromerare diseasesphingolipidoses

Interventions

chenodeoxycholic acidDRUG
cholic acidDRUG
ursodiolDRUG

Eligibility Criteria

AgeUp to 5 Years
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17)
Biochemically proven peroxisomal disorder, including: * Zellweger syndrome * Pseudo-Zellweger syndrome * Neonatal adrenoleukodystrophy * Bifunctional enzyme deficiency * Infantile Refsum's disease

Contact the study team to discuss eligibility requirements. They can help determine if this study is right for you.

Sponsors & Collaborators

MeSH Terms

Conditions

Refsum Disease, InfantileZellweger SyndromePseudo-Zellweger syndromeAdrenoleukodystrophyMetabolism, Inborn ErrorsPeroxisomal DisordersRare DiseasesSphingolipidoses

Interventions

Chenodeoxycholic AcidCholic AcidUrsodeoxycholic Acid

Condition Hierarchy (Ancestors)

Brain Diseases, Metabolic, InbornBrain Diseases, MetabolicBrain DiseasesCentral Nervous System DiseasesNervous System DiseasesGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesMetabolic DiseasesNutritional and Metabolic DiseasesLiver DiseasesDigestive System DiseasesKidney DiseasesUrologic DiseasesFemale Urogenital DiseasesFemale Urogenital Diseases and Pregnancy ComplicationsUrogenital DiseasesMale Urogenital DiseasesAbnormalities, MultipleCongenital AbnormalitiesHereditary Central Nervous System Demyelinating DiseasesLeukoencephalopathiesDemyelinating DiseasesX-Linked Intellectual DisabilityIntellectual DisabilityNeurobehavioral ManifestationsNeurologic ManifestationsGenetic Diseases, X-LinkedHeredodegenerative Disorders, Nervous SystemAdrenal InsufficiencyAdrenal Gland DiseasesEndocrine System DiseasesDisease AttributesPathologic ProcessesPathological Conditions, Signs and SymptomsLysosomal Storage Diseases, Nervous SystemLipidosesLipid Metabolism, Inborn ErrorsLysosomal Storage DiseasesLipid Metabolism Disorders

Intervention Hierarchy (Ancestors)

Deoxycholic AcidCholic AcidsBile Acids and SaltsSteroidsFused-Ring CompoundsPolycyclic CompoundsCholanes

Study Officials

  • Kenneth Setchell

    Children's Hospital Medical Center, Cincinnati

    STUDY CHAIR

Study Design

Study Type
interventional
Phase
not applicable
Purpose
TREATMENT
Sponsor Type
OTHER

Study Record Dates

First Submitted

October 18, 1999

First Posted

October 19, 1999

Study Completion

April 1, 1999

Last Updated

March 25, 2015

Record last verified: 2000-11