Recruiting

Observational Study

Sponsor:

Lysosomal and Rare Disorders Research and Treatment Center, Inc.

Code:

NCT04055831

Conditions

Gaucher Disease Type 1

Eligibility Criteria

Sex: All

Age: 16 - 70+

Healthy Volunteers: Accepted

Study Details

Brief summary:

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.

Conditions

Gaucher Disease Type 1

Study ID

NCT04055831

Start date

May 15, 2019

Status verified date

Aug, 2019

Completion date

May 15, 2020

Anticipated

Primary completion date

Apr 15, 2020

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 16 - 70+

Healthy Volunteers: Accepted

Inclusion Criteria:

  • To be enrolled in this study the subject must meet the following criteria

1. Subject is greater than 16 years old but not older than 90 years
2. Signed Informed Consent/Assent
3. Subject is able and willing to sign informed consent or assent
4. 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

Exclusion Criteria:

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

Study Design

Enrollment

40 participants

Anticipated

Interventions and Outcome Measures

Arms

GD1 subjects with no bone complications

1. GD1 subjects with no bone complications (n=10)

GD1 patients with mild bone complication

2. GD1 subjects with mild bone complications

GD1 with severe bone complications

3. GD1 subjects with severe bone complications

No bone disease

Controls with no known bone disease (n=10)

Primary outcome measure

  • Measure biomarkers level in molar/l/h [ Time Frame: 18 months ]
  • Measure biomarkers level: molar/mg/h [ Time Frame: 18 months ]

Central Contacts and Locations

Central contacts

Jacqueline Fikry

571-732-4575jfikry@ldrtc.org

Margarita Ivanova, PhD

5715296724mivanova@ldrtc.org

Locations

LDRTC

Recruiting

Fairfax, Virginia, United States, 22030

Contacts

Ozlem Goker-Alpan, MD

703-261-6220ogokar-alpan@ldrtc.org

Margarita M Ivanova, PhD

7032616220mivanova@ldrtc.org

Principal Investigator:

Ozlem Goker-Alpan, MD

More Information

Sponsor

Lysosomal and Rare Disorders Research and Treatment Center, Inc.

Last update posted

Aug 15, 2019

Last verified

Aug, 2019

Keywords

  • Gaucher disease
  • Osteoporosis

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-29. This information was provided to ClinicalTrials.gov by Lysosomal and Rare Disorders Research and Treatment Center, Inc. on 2019-08-15. Recruitment status is synced daily from ClinicalTrials.gov and may not reflect the sponsor's current status. Confirm during your call.