Mesenchymal Cell Therapy in Osteogenesis Imperfecta (OI)

• Status: Not yet recruiting
• Trial end date: 2026-10-01
• Target enrollment: 0
• Participant gender: All

Summary

This is a Phase 1/2 study to determine the safety and efficacy of allogeneic (third party), bone-marrow derived mesenchymal stromal cells (MSCs) for the treatment of Osteogenesis Imperfecta (OI) Type 3. It will evaluate this by looking at whether there are treatment related infusion reactions, and assessing linear growth rates and bone health, both of which are impaired in patients ages 3-10 with Osteogenesis Imperfecta Type 3. This is a single-site non-randomized clinical trial, that will take place at Children's Healthcare of Atlanta (CHOA) at Egleston and Emory Children's Center.

• Phase: Phase 1/Phase 2
• Accepts Healthy Volunteers?: No

Details

• Lead Sponsor: Emory University

Criteria

Inclusion Criteria:

• 1. Parent/legal guardian must be willing to sign consent forms to participate in this trial 2. Participants must be >3 years of age and <10 years of age at time of enrollment 3. Must carry mutation in either COL1A1 or COL1A2 genes and based on clinical assessment have severe Type 3 OI* 4. Must be pre-pubertal to minimize potential influence of hormonal effects on growth velocity and BMD; for children who may be entering puberty at or near upper end of this age bracket, puberty assessment will be based on clinical and laboratory findings 5. Must have received IV pamidronate therapy for at least one year prior to study initiation.

• Type 3 OI will be confirmed with an Invitae Skeletal Dysplasia test, and clinical assessment including:

• Blue/grey sclerae

• Presence of prenatal fractures (on ultrasound when available)

• Deformities present at birth (confirming prenatal fractures)

• Severity of fractures and progressive deformities although no absolute 'number' of fractures is available

Exclusion Criteria:

1. Lacking confirmation of mutation in either COLA1A1 or COL1A2 genes

2. Other pathological types of OI

3. Any concurrent medical issue(s) known to decrease BMD (e.g., malabsorption conditions, glucocorticoid use)

4. Participation in other clinical trial

5. Vitamin D deficiency (<20 ng/dL) despite treatment

6. Clinically significant thrombocytopenia as defined by a platelet count of < 150,000x103/microliter ; anemia as defined by hemoglobin < 5th percentile for age (<11.5g/dL); neutropenia as defined by absolute neutrophil count < 1.5 x103/microliter; or elevations in the white blood cell count as defined by 3-6 year old-WBC > 15.5WBC x 103/microliter; 6-9 year old WBC >13.5 x103/microliter (Flerlage 2015)

8. PRA screening positive for anti-HLA antibodies 9. Elevated LFT's greater than 2 times the upper limit of normal 10. Other genetic disorders 11. Other skeletal dysplasia disorders 12. Other primary or secondary bone disorders 13. History of acute or chronic infections 14. History of cancer 15. History of thrombosis or prothrombotic disorders 16. History of heart disease 17. History of diabetes 18. History of strokes 19. History of vascular conditions 20. History of lung disease