Mesenchymal stem cell based therapy for the treatment of osteogenesis imperfecta

Conditions: Osteogenesis imperfecta (OI) is a rare genetic disorder with increased bone fragility of varying severity. In the majority of patients the disease is caused by mutations in collagen type I. Severe OI is characterized by osteopenia, frequent fractures, progressive deformity, short stature, loss of mobility, chronic pain and can lead to premature death. At present a cure does not exist.
Therapeutic area: Body processes [G] - Cell Physiological Phenomena [G04]

Registration Number: EUCTR2012-002553-38-ES

Lead Sponsor: Itziar Astigarraga Aguirre

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Authorised-recruitment may be ongoing or finished

Sex: All

Target Recruitment: Not specified

Inclusion Criteria

1.-Patient age: older than 6 months and younger than 12 years old.
2.-Patients with molecular confirmation of mutation in either COL1A1 or COL1A2 genes associated with severe deforming OI (type III).
3.-Patiens with HLA identical (that shared at least 5/6 antigens) siblings willing to donate bone marrow-MSCs.
4.-All patients that fulfil the inclusion criteria regardless of whether or not they are undergoing biphosphonate treatment
5.-Patients whose parents or the legal guardians are willing to sign the consent forms to participate in this clinical trial.
Are the trial subjects under 18? yes
Number of subjects for this age range: 3
F.1.2 Adults (18-64 years) no
F.1.2.1 Number of subjects for this age range
F.1.3 Elderly (>=65 years) no
F.1.3.1 Number of subjects for this age range

Exclusion Criteria

1.-Patient age: older than 12 years old
2.-Patients lacking confirmation of mutation in either COL1A1 or COL1A2 genes associated with severe deforming OI (type III).
3.-Other pathological subtypes of OI.
4.-Patiens lacking of HLA identical (that shared at least 5/6 antigens) siblings willing to donate bone marrow-MSCs.
5.-Immunodeficiencies and any other malignancies
6.-Participation in other clinical trial
7.-Any medical or psychiatric condition that in the researcher?s opinion could affect the patient´s ability to complete the trial or hamper the participation in the trial.
8.-Patients whose parents or the legal guardians do not sign the consent forms