NCT00018694

Brief Summary

The treatment of cerebrotendinous xanthomatosis an in born error of bile acid synthesis with chenodeoxycholic acid. Patients with this disease over produce cholestanol and bile acid precursors because of the block in synthesis. Replacement with chenodeoxycholic acid shut down abnormal pathway and reduces elevated level of cholestanol and improves the clinical syndrome.

Trial Health

30
At Risk

Trial Health Score

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

Trial has exceeded expected completion date
Timeline
Completed

Started Oct 1999

Longer than P75 for not_applicable

Geographic Reach
1 country

1 active site

Status
withdrawn

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 Start

First participant enrolled

October 1, 1999

Completed
1.8 years until next milestone

First Submitted

Initial submission to the registry

July 3, 2001

Completed
2 days until next milestone

First Posted

Study publicly available on registry

July 5, 2001

Completed
8.4 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

December 1, 2009

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

December 1, 2009

Completed
Last Updated

October 14, 2013

Status Verified

October 1, 2013

Enrollment Period

10.2 years

First QC Date

July 3, 2001

Last Update Submit

October 11, 2013

Conditions

Cerebrotendinous Xanthomatosis

Keywords

bile acid synthesischenodeoxycholic acidsterol 27-hydroxylase

Study Arms (1)

Arm 1

OTHER
Drug: Chenodeoxycholic Acid

Interventions

Chenodeoxycholic AcidDRUG
Arm 1

Eligibility Criteria

Age5 Years - 80 Years
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

  • Patients with clinical and biochemical findings of cerebrotendinous xanthomatosis. Elevated levels of serum cholestanol and bile acid precursors.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

VA New Jersey Health Care System, East Orange

East Orange, New Jersey, 07018, United States

Location

MeSH Terms

Conditions

Xanthomatosis, Cerebrotendinous

Interventions

Chenodeoxycholic Acid

Condition Hierarchy (Ancestors)

Lipid Metabolism, Inborn ErrorsMetabolism, Inborn ErrorsGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesLipid Metabolism DisordersMetabolic DiseasesNutritional and Metabolic DiseasesXanthomatosis

Intervention Hierarchy (Ancestors)

Deoxycholic AcidCholic AcidsBile Acids and SaltsSteroidsFused-Ring CompoundsPolycyclic CompoundsCholanes

Study Officials

  • Gerald Salen

    VA New Jersey Health Care System, East Orange

    PRINCIPAL INVESTIGATOR
0

Study Design

Study Type
interventional
Phase
not applicable
Allocation
NON RANDOMIZED
Masking
NONE
Sponsor Type
FED
Responsible Party
SPONSOR

Study Record Dates

First Submitted

July 3, 2001

First Posted

July 5, 2001

Study Start

October 1, 1999

Primary Completion

December 1, 2009

Study Completion

December 1, 2009

Last Updated

October 14, 2013

Record last verified: 2013-10

Locations

US(1)