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Gene Therapy With Modified Autologous Hematopoietic Stem Cells for the Treatment of Patients With Mucopolysaccharidosis Type I, Hurler Variant
Bu çalışma, Mukopolisakkaridoz Tip I (Mucopolysaccharidosis Type I) Hurler varyantı olan hastalarda, hastanın kendi kök hücrelerinin IDUA genini taşıyan bir lentiviral vektörle genetik olarak değiştirilmesine dayanan bir gen terapisini incelemektedir. Çalışmaya, 28 gün ile 11 yaş arasında, biyokimyasal ve moleküler olarak tanısı doğrulanmış hastalar katılmaktadır. Çalışma Faz 1/Faz 2 aşamasında yürütülmekte; şu an katılımcı almamakta ancak devam etmektedir (active, not recruiting).
Yukarıdaki özet, resmî kaydın sade dile aktarılmış halidir. Orijinal İngilizce başlık referans için gösterilir.
Kriterler ClinicalTrials.gov kaydından orijinal İngilizce haliyle alınmıştır. Uygunluk kararını yalnızca deneyi yürüten ekip verebilir.
Inclusion Criteria: * Written informed consent by parent/legal guardian * Sex: Males and Females * Age: ≥ 28 days and ≤ 11 years old * Biochemically and molecularly proven MPS IH * Lansky index \>80% * Indication to hematopoietic stem cell transplant * 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 10\^7 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) * Severe, active viral, bacterial or fungal infection at eligibility evaluation * Patients affected by 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 * Previous allogeneic hematopoietic stem cells transplantation or gene therapy with a different product * Contraindications to PeIMP (G-CSF, Plerixafor, Busulfan, Fludarabine, Rituximab)