Gene therapy study with autologous hemapoietic stem cells for patients affected by MPSIH

Phase 1

Conditions: Mucopolysaccharidosis type I Hurler
Therapeutic area: Phenomena and Processes [G] - Genetic Phenomena [G05]

Registration Number: CTIS2024-514870-29-00

Lead Sponsor: Ospedale San Raffaele S.r.l.

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: ot Recruiting

Sex: All

Target Recruitment: 8

Inclusion Criteria

Written informed consent by parent/legal guardian, Sex: Males or Females, Age: = 28 days and = 11 years old, Biochemically and molecularly proven MPS IH, Lansky Index > 80 %, Indication to HSCT, Lack of a non-heterozygous (for mutated IDUA) HLA-matched sibling donor or a =7/8 (4 digits high-resolution typing) HLA-matched cord blood donor with a cellularity =5 x 107 Total Nucleated Cells (TNC)/Kg after 1-month search. This criterion will not apply to patients whose country of origin does not offer unrelated donor cord blood transplantation., Adequate cardiac, renal, hepatic and pulmonary functions

Exclusion Criteria

Use of other investigational agents within 4 weeks prior to study enrolment (within 6 weeks if use of long-acting agents), Controindications to PeIMP (G-CSF, Plerixafor, Busulfan, Fludarabine, Rituximab), Severe, active viral, bacterial, or fungal infection at eligibility evaluation, Patients affected by malignant neoplasia or family history of familial cancer syndromes, Cytogenetic alterations associated with high risk of developing hematological malignancies, History of uncontrolled seizures, Patients with end-organ damage or any other severe disease which, in the judgment of the investigator, would make the patient inappropriate for entry into this study, Positivity for HIV (serology or RNA), and/or HbsAg and/or HBV DNA and/or HCV RNA and/or Treponema Pallidum or Mycoplasma active infection, Patients with DQ/IQ <70 (Cognitive Scale for Bayley Scale of Infant Development and Performance IQ for wppsi and wisc), Previous allogeneic HSCT or gene therapy with a different product