Incidence of IMO is 1/250,000 and if untreated has a fatal outcome1
How is IMO diagnosed?³
IMO can be diagnosed during check-ups in the weeks and months after birth
CLINICAL HISTORY & EVALUATION
- History: difficulty feeding, excessive crying and rhinitis
- Exam: hypertelorism, gum thickening, pallor
- abnormally high bone density
- decreased marrow space
- mask sign on skull film
LAB BLOOD TESTS
- CBC with differential: anemia, erythroblasts & immature WBC
- TCIRG1 gene mutation
Who is eligible to participate in the IMO gene therapy clinical trial?
Pediatric patients ≥1 month of age with documented TCIRG1 mutation
Patients for whom a hematopoietic stem cell transplantation (HSCT) with an HLA-identical sibling donor is either unavailable or unfeasible
Medically fit to undergo transplantation with myeloablative conditioning
What does participation in the IMO gene therapy clinical trial involve?
There are 3 key steps that take place during the trial:
- Blood stem cells are taken from the patient
- This takes ~ 5 days in the hospital
- Therapeutic gene is inserted into the patient’s own cells at a lab
- This takes 1-2 months. Patients will come back to hospital once this process is complete.
- Patients will receive a drug called busulfan to help get body ready to receive the gene therapy (~ 4 days)
- Finally, patients receive gene therapy product and will be kept in the hospital for ~ 1 month to closely monitor disease & treatment effects
How much will it cost to participate in the trial?
Financial support, including travel arrangements and housing accommodations for patients and a family member, both for the treatment and follow-up visits, will be provided.
This will also include assistance with passports, medical visas and translation services for patients and families if these are needed.
- Stark Z, Savarirayan R. Osteopetrosis. Orphanet J Rare Dis. 2009;4:5. Published 2009 Feb 20. doi:10.1186/1750-1172-4-5
- Villa, A., Guerrini, M.M., Cassani, B. et al. Infantile Malignant, Autosomal Recessive Osteopetrosis: The Rich and The Poor. Calcif Tissue Int 84, 1 (2009). https://doi.org/10.1007/s00223-008-9196-4
- Essabar L, Meskini T, Ettair S, Erreimi N, Mouane N. Malignant infantile osteopetrosis: case report with review of literature. Pan Afr Med J. 2014;17:63. Published 2014 Jan 27. doi:10.11604/pamj.2014.17.63.3759