NCT01439607

Brief Summary

Gaucher disease is an inherited autosomal recessive lysosomal storage disorder caused by the defective activity of the glucocerebrosidase, leading to accumulation of glucocerebroside particularly in cells of the macrophage lineage. Clinical manifestations associate hematological, neurological and bone disorders.

Trial Health

87
On Track

Trial Health Score

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

Enrollment
30

participants targeted

Target at below P25 for not_applicable

Timeline
Completed

Started Dec 2009

Typical duration for not_applicable

Geographic Reach
1 country

1 active site

Status
completed

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

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

December 1, 2009

Completed
1.6 years until next milestone

First Submitted

Initial submission to the registry

June 22, 2011

Completed
3 months until next milestone

First Posted

Study publicly available on registry

September 23, 2011

Completed
4 months until next milestone

Primary Completion

Last participant's last visit for primary outcome

February 1, 2012

Completed
29 days until next milestone

Study Completion

Last participant's last visit for all outcomes

March 1, 2012

Completed
Last Updated

May 23, 2014

Status Verified

April 1, 2014

Enrollment Period

2.2 years

First QC Date

June 22, 2011

Last Update Submit

May 22, 2014

Conditions

Gaucher Disease

Keywords

Gaucher disease

Outcome Measures

Primary Outcomes (1)

  • stem cells

    day 1

Study Arms (1)

Bone marrow and blood sampling

EXPERIMENTAL
Other: Bone marrow and blood sampling

Interventions

Bone marrow and blood samplingOTHER

Bone marrow and blood sampling

Bone marrow and blood sampling

Eligibility Criteria

Age18 Years+
Sexall
Healthy VolunteersNo
Age GroupsAdult (18-64), Older Adult (65+)

You may qualify if:

  • age \> 18 years
  • Gaucher disease
  • clinical examination written consent

You may not qualify if:

  • pregnancy
  • HIV seropositive
  • contraindication to bone marrow sampling

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Bertrand Arnulf

Paris, Paris, 75010, France

Location

MeSH Terms

Conditions

Gaucher Disease

Interventions

Blood Specimen Collection

Condition Hierarchy (Ancestors)

SphingolipidosesLysosomal Storage Diseases, Nervous SystemBrain Diseases, Metabolic, InbornBrain Diseases, MetabolicBrain DiseasesCentral Nervous System DiseasesNervous System DiseasesMetabolism, Inborn ErrorsGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesLipidosesLipid Metabolism, Inborn ErrorsLysosomal Storage DiseasesMetabolic DiseasesNutritional and Metabolic DiseasesLipid Metabolism Disorders

Intervention Hierarchy (Ancestors)

Specimen HandlingClinical Laboratory TechniquesDiagnostic Techniques and ProceduresDiagnosisPuncturesSurgical Procedures, OperativeInvestigative Techniques

Study Officials

  • Bertrabd Arnulf, MD

    Assistance Publique - Hôpitaux de Paris

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
interventional
Phase
not applicable
Allocation
NA
Masking
NONE
Purpose
BASIC SCIENCE
Intervention Model
SINGLE GROUP
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

June 22, 2011

First Posted

September 23, 2011

Study Start

December 1, 2009

Primary Completion

February 1, 2012

Study Completion

March 1, 2012

Last Updated

May 23, 2014

Record last verified: 2014-04

Locations

FR(1)