Immune Biomarkers Related to Bone Pathology in Patients With Type 1 Gaucher Disease

Status unconfirmed

Conditions studied: Gaucher Disease Type 1

In brief

Bone-related problems represent the principal unmet medical need in Gaucher disease (GD). 75% of GD type 1 patients develop skeletal complications, including bone remodeling defects, osteopenia, osteoporosis, marrow infiltration, avascular necrosis, and osteolysis. However, the underlying cellular/molecular basis of bone involvement and related complications in GD are not fully known. Neither are there any bone-specific markers associated with individual bone pathology. Early diagnosis of bone disease is the key issue for planning individual therapy to prevent and reverse bone disease in GD.

Key facts

Study ID

NCT04055831

Run by

Lysosomal and Rare Disorders Research and Treatment Center, Inc.

People needed

40

Starts

2019-05-15

Expected to finish

2020-05-15

Last updated by the study team

2019-08-15

Who can join

Age: 16 and older, up to 90. Sex: any. Healthy volunteers: accepted.

You may qualify if…

• To be enrolled in this study the subject must meet the following criteria
• Subject is greater than 16 years old but not older than 90 years
• Signed Informed Consent/Assent
• Subject is able and willing to sign informed consent or assent
• If the subject has GD1, the must have a confirmed diagnosis of Gaucher disease by
• GCase enzyme activity
• DNA analysis demonstrating pathogenic variants in the GBA gene

You may not qualify if…

• a) Have evidence of hepatitis B, hepatitis C infection or any other chronic infectious disease b) Be pregnant or breastfeeding

Where it is running

• LDRTC — Fairfax, Virginia, United States (enrolling)

Full record on ClinicalTrials.gov

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