Identifying blood biomarkers for bone disease in children with Gaucher disease
Pilot Study to Assess Immune Biomarkers and Growth Factors Related to Bone Pathology in Pediatric Patients With Gaucher Disease
Lysosomal and Rare Disorders Research and Treatment Center, Inc. · NCT06116071
This study is trying to find new blood tests that can help doctors understand and manage bone problems in children with Gaucher disease.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 20 (estimated) |
| Ages | 5 Years to 21 Years |
| Sex | All |
| Sponsor | Lysosomal and Rare Disorders Research and Treatment Center, Inc. (other) |
| Locations | 1 site (Fairfax, Virginia) |
| Trial ID | NCT06116071 on ClinicalTrials.gov |
What this trial studies
This observational study aims to establish novel blood-based biomarkers for grading bone disease in pediatric patients diagnosed with Gaucher disease. Eligible participants will include children aged 5-21 with confirmed Gaucher disease type 1 or type 3, and their bone health will be assessed using standard clinical diagnostic tools. The study will compare biomarker levels in these patients to those in age-matched healthy controls, while also considering the impact of growth phases on skeletal development. The findings could lead to better understanding and management of bone-related complications in Gaucher disease.
Who should consider this trial
Good fit: Ideal candidates for this study are pediatric patients aged 5-21 with a confirmed diagnosis of Gaucher disease type 1 or type 3.
Not a fit: Patients with active chronic infections or those who are pregnant or breastfeeding may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could provide new diagnostic tools for monitoring bone health in children with Gaucher disease, potentially improving their treatment outcomes.
How similar studies have performed: While there is ongoing research in Gaucher disease, this specific approach to identifying blood biomarkers for bone disease in pediatric patients is novel and has not been extensively tested.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: 1. The parent or legal guardian and the participant who is eligible to provide assent are able and willing to provide informed consent and assent when applicable. 2. The participant is 5-21 years of age at the initial visit. 3. The participant has a confirmed diagnosis of GD type 1 or type 3 (biochemically and/or genetically). 4. In the investigator's opinion, the subject is capable of understanding and complying with protocol requirements. 5. The subject or, when applicable, the subject's legally acceptable representative signs and dates a written, informed consent form and any required privacy authorization prior to the initiation of any study procedures. Exclusion Criteria: 1. Any subject who does not meet any of the following criteria will not qualify for the study. 2. Any current active chronic infection such as HIV, Hepatitis B or C. 3. Pregnancy or breastfeeding for females.
Where this trial is running
Fairfax, Virginia
- Lysosomal and Rare disorder research and treatment center — Fairfax, Virginia, United States (RECRUITING)
Study contacts
- Principal investigator: Ozlem Goker-Alpan, MD — Lysosomal and Rare Disorders Research and Treatment Center
- Study coordinator: Margarita Ivanova, PhD
- Email: mivanova@ldrtc.org
- Phone: 5714592367
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions: Gaucher Disease, Bone Diseases