A Phase 1/2 interventional study of Bone marrow-derived mesenchymal stromal cells (MSCs) in Osteogenesis Imperfecta and Osteogenesis Imperfecta Type III, sponsored by Emory University. Not yet recruiting. Open to participants aged 3 Years to 10 Years. Per ClinicalTrials.gov, last updated 2026-05-08.
Sponsored by Emory University · Phase 1/2, Interventional, and Treatment
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.
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.
MSCs will be infused through IV every 4 months for 6 total infusions. There will be a baseline visit before MSC therapy is initiated, and there will be a follow up visits every 4 months for 1 year after the final MSC infusion. These infusions will take place in between pamidronate infusions (i.e. 2 months after the last pamidronate infusion, and 2 months before the next one). Pamidronate aids in treatment of bone pain and bone mineral density but does not correct the underlying defect nor does it show substantial improvements in linear growth.
After the MSC infusions, patients will be provided an overnight at Ronald McDonald House, or a hospital affiliated hotel so they can be near to the hospital in case of any unanticipated effects, and for a follow up visit the next morning.
Labs will be collected during every visit to look at bone metabolism. Limb and bone age x-rays, pQCT scans, and dual-energy x-ray absorptiometry (DXA) scans will be completed annually, while spine films will be completed every 18 months. These images will directly examine bone health. Body measurements will be taken every visit as well to assess linear growth. The patients' parents will complete events diaries and submit them each infusion day to evaluate fractures that occurred between visits. Patients and their parents will also complete quality of life surveys once a year.
There will be financial compensation for each study visit. Subjects will also be provided a free lunch on days when radiology visits occur and will be reimbursed for parking.
Subjects will be identified and recruited mainly through Children's endocrinology clinic. There will also be advertisements to the OI foundation, and neighboring pediatric hospitals with OI programs such as University of Alabama at Birmingham, and Vanderbilt. If identified as eligible to participate, the study team will seek approval by the subjects' primary endocrinologist. The consent process will then take place in person during a baseline visit.
There is an optional part of the study that involves donation of a bone fragment that is taken out during a routine surgical rodding procedure. This piece of bone is removed and discarded, if it is not donated, making it minimal risk. Bone sample donation will be available to OI Type 3 subjects receiving MSCs, and to OI Type 3 subjects who are not receiving MSCs but want to participate in research.
Leftover blood samples, and bone fragments may be stored for future research by the sponsor of this study.
The purpose of this study is to help doctors and scientists learn if serial MSC infusions will safely and effectively aid in growth, bone health, and ultimately improve motoric function and quality of life in this population.
84 studies on the registry are indexed under Osteogenesis Imperfecta; 20 are open to participants now.
This study's planned enrollment of 12 is below the median of 28 across 60 interventional studies indexed under Osteogenesis Imperfecta.
Browse Osteogenesis Imperfecta studies →Emory University is the lead sponsor of 1,405 studies on the registry; 225 are open to participants now.
Of its 237 completed or terminated interventional studies of FDA-regulated products, 178 (75%) have results posted.
Counted across the registry records on this site, refreshed daily.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
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:
Exclusion Criteria:
8. PRA screening positive for anti-HLA antibodies 9. Elevated LFT's greater than 2 times the 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
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Anti-inflammatory medicines such as prednisone, prednisolone and dexamethasone — not the anabolic steroids used for muscle.
Studies differ in what they allow: check which steroid medicines, routes (tablets, injections, creams, inhalers, eye drops) and doses this study accepts.
Judged by the study doctor to matter for your health or for the study. It is a doctor’s decision, so ask the study team if you are unsure whether something counts.
Blood cells that help blood clot. Too few raises the risk of bleeding and bruising. A usual adult range is about 150–400 × 10⁹/L (150,000–400,000 per µL); each lab has its own reference range.
The protein in red blood cells that carries oxygen. A low level is anaemia, which can cause tiredness and breathlessness. Measured in g/dL or g/L (9 g/dL is 90 g/L).
The number of neutrophils, white blood cells that help fight infection, in a given amount of blood. Too few raises the risk of infection.
It is a count, not a percentage of the white cells. Limits are written in units that mean the same: ≥ 1.5 × 10⁹/L is ≥ 1,500 per mm³ (µL). Each lab has its own reference range.
The top of the normal range for a blood test, as set by the laboratory that runs it. Each lab prints its own range next to your result.
“≤ 2.5 × ULN” means the result can be up to two and a half times that top value.
Corticosteroids (steroids)
Anti-inflammatory medicines such as prednisone, prednisolone and dexamethasone — not the anabolic steroids used for muscle.
Studies differ in what they allow: check which steroid medicines, routes (tablets, injections, creams, inhalers, eye drops) and doses this study accepts.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Clinically significant
Judged by the study doctor to matter for your health or for the study. It is a doctor’s decision, so ask the study team if you are unsure whether something counts.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Platelets
Blood cells that help blood clot. Too few raises the risk of bleeding and bruising. A usual adult range is about 150–400 × 10⁹/L (150,000–400,000 per µL); each lab has its own reference range.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Hemoglobin (Hb)
The protein in red blood cells that carries oxygen. A low level is anaemia, which can cause tiredness and breathlessness. Measured in g/dL or g/L (9 g/dL is 90 g/L).
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Absolute neutrophil count (ANC)
The number of neutrophils, white blood cells that help fight infection, in a given amount of blood. Too few raises the risk of infection.
It is a count, not a percentage of the white cells. Limits are written in units that mean the same: ≥ 1.5 × 10⁹/L is ≥ 1,500 per mm³ (µL). Each lab has its own reference range.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
ULN (upper limit of normal)
The top of the normal range for a blood test, as set by the laboratory that runs it. Each lab prints its own range next to your result.
“≤ 2.5 × ULN” means the result can be up to two and a half times that top value.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Intravenously-infused allogeneic, bone marrow-derived mesenchymal stromal cells (MSCs) in children with Osteogenesis Imperfecta Type III that will be infused at 0 months, 4 months, 8 months, 12 months, 16 months, and 20 months, after enrollment.
Drug: Bone marrow-derived mesenchymal stromal cells (MSCs)
Mesenchymal stromal cells (MSCs) are cells of non-hematopoietic stromal origin that reside in bone marrow and a variety of tissues. MSCs will be prepared in a GMP Cell Production facility and administered to children age 3-10 years (at time of enrollment) with Osteogenesis Imperfecta Type III.
Also known as: MSC infusions
Recruitment rate of participants
Number of participants consented at the end of the trial
Time frame: Up to 24 months post-intervention
Number of participants with correctly collected data for the study outcomes
Number of participants with data correctly collected for the study outcomes
Time frame: Up to 24 months post-intervention
Total number of visits with protocol deviation
Total number of visits with protocol deviations at the end of the trial
Time frame: Up to 24 months post-intervention
Visit attendance by participants
Percentage of visits completed by participants
Time frame: Up to 1 year post last infusion intervention
Patient retention rate
Percentage of patients that complete the study intervention and all follow up study visits
Time frame: Up to 1 year post last infusion intervention
Patient Primary Clinical Outcome Retention Rate
Percentage of participants that completed the primary clinical outcome measurements
Time frame: Up to 1 year post last infusion intervention
Change in acceptability from baseline
Acceptability will be evaluated with an end of study structured, verbal interview. This interview will consist of a mix of closed ended (scaled questions from 1\[worst\]-5 \[best\]) and open-ended questions giving subjective measurements. Open-ended questions will address overall experience during the study and prompt expression of thoughts or perspectives after completing the study. The total possible score range is 18 to 90. Higher score correlates with better outcome.
Time frame: Baseline, Up to 36 months post-intervention
Number of unexpected adverse events
Unexpected adverse events that occur from first study intervention to one year after last infusion.
Time frame: Up to 1 year post last infusion intervention
Number of participants with change in vital signs from baseline
Number of participants with blood pressure, oxygen saturation, heart rate, respiratory rate, and temperature below or above each participants accepted mean reference range.
Time frame: Baseline, 10 minutes pre-intervention, 15 minutes post-intervention, 30 minutes post-intervention, 1 hour post-intervention, 1 hour post completion of the infusion
Number of participants with changes in laboratory panels from baseline (CBC, CMP)
Number of patients with changes in CBC or CMP values from baseline CBC or CMP values. Any evidence of thrombocytopenia, anemia, neutropenia, or elevations in white blood counts will require consideration of stopping or pausing infusions by the PI. Slight changes in the ALT, AST, and calcium values are expected due to standard medication uses and will be monitored by PI.
Time frame: Baseline, every 4 months post-intervention
Change in number of participants with changes in radiological parameters
Number of participants with changes in radiological parameters (xrays and DXA scan) from baseline will be monitored during the study follow up time. DXA scans and x-rays used to assess for any semi-triggers that may require considerations of stopping or pausing infusions.
Time frame: Baseline, 8, 20 and 32 months post-intervention
Change in annualized linear growth velocity
This study will assess the annualized linear growth velocity at baseline and during cell therapy protocol in children with Type 3 OI (3-10 years of age and pre-pubertal at time of enrollment). Growth charts will be generated using growth measurements obtained every 4 months. Growth charts will be referenced against sex- and age-specific Centers for Disease Control and Prevention (CDC) childhood OI growth reference charts.
Time frame: Baseline, every 4 months until 1 year after last infusion intervention
Change in fracture rate from baseline
Overt and covert fracture rate will be measured in each child at baseline and at regular intervals during MSC therapy by using a caretaker events diary, limb films, and spine films to tally more objectively new and healing fractures.
Time frame: Baseline, every 4 months post-intervention until 1 year after last infusion intervention
Change in bone mineral density from baseline
Bone mineral density will be determined by DXA (dual-energy absorptiometry) analysis for TBLH (total body less head), spine and distal radius sites.
Time frame: Baseline, yearly until 1 year after last infusion intervention
Change in bone age
A bone age assessment is done using left hand radiograph. Bone age will be followed yearly in children of 8 years of age and older at time of enrollment in conjunction with exam and laboratory assessments to determine potential effects of puberty on bone density.
Time frame: Baseline, yearly until 1 year after last infusion intervention
Change in Vertebral Compression Fractures (VCFs)
Due to abnormal collagen and the associated decrease in BMD, VCFs are common in Type 3 OI. These can be 'silent' and/or associated with back pain. PA TL film and LAT TL film will be obtained to assess VCF's that cannot be assessed by DXA in children. Spine radiographs are within standard of care for treatment of OI.
Time frame: Baseline, every 18 months until one year after last infusion intervention
Number of participants with changes in bone metabolism markers
Markers including osteocalcin, BAP, CTX, PICP, Calcium/Creatinine Ratio (urine), and NTX/Creatinine Ratio (urine) will be assessed for both bone health as well as bone formation/resorption.
Time frame: Baseline, every 12 months post-intervention, and at the conclusion of the study (up to 36 months post-intervention)
Change in Limb Deformity Modified EOS Questionnaire (LD-EOSQ-22) from baseline
This is a validated survey that will serve as a patient-reported outcome measure evaluating health status for these patients and the burden of their caregivers. The scores can range from 0-100 with a higher score correlating with a better outcome.
Time frame: Baseline, annually until 1 year after last infusion
Change in BAMF (Brief Assessment of Motor Function) from baseline
This validated survey contains 10 point ordinal scales that outline rapid descriptions for gross and fine motor performance. The higher you score on the BAMF survey, the more developed your gross and fine motor skills are.
Time frame: Baseline, annually until 1 year after last infusion
Change in Pediatric Orthopedic Data Collection Instrument (PODCI) from baseline
The PODCI questionnaire will used to quantify function abilities in our studied population. The scores can range from 0-100, with higher scores indicating higher levels of disability, and lower scores indicating better functioning.
Time frame: Baseline, annually until 1 year after last intervention
No study locations are listed for this record.
Plan to share: Yes — All of the individual participant data collected during the trial, after de-identification and publication.
Supporting information: Study protocol, Statistical analysis plan
Time frame: Immediately following publication and then for a minimum of 5 years
Access criteria: Investigators whose proposed use of the data has been approved by an independent review committee ("learned intermediary") identified for this purpose, to achieve aims in the approved proposal. Proposals should be directed to edwin.horwitz@emory.edu. To gain access, data requestor will need to sign a data access agreement.
No publications or documents are linked to this record.
This study is not yet recruiting, as verified in May 2026. You cannot join it, but the record below documents what was studied.
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