Own stem cells Gene-Hacked to fight rare hurler syndrome
NCT ID NCT03488394
First seen Jun 27, 2026 · Last updated Jul 17, 2026 · Updated 2 times
Summary
This study tests a one-time gene therapy for children with Hurler syndrome, a severe genetic disorder. Doctors take the child's own blood stem cells, add a working copy of the missing gene, and put them back. The goal is to help the body produce the enzyme it lacks, potentially stopping disease damage. The trial checks safety and whether the treatment works in up to 8 children aged 28 days to 11 years.
This is an AI summary of the original study and may miss details. Read our disclaimer.
Study facts
What this study's own registry entry says, in plain language.
- Phase
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Phase 1/2
Runs two stages together: safety and dose first, then whether the treatment works.
- Participants
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8 people
The number who actually took part.
- Started
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May 2018
- Expected to finish
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Mar 2035
An estimate. End dates often move.
- Lead sponsor
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A company
The lead sponsor is a pharmaceutical, biotech, or medical-device company.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
- Ages
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28 days to 11 years
- Sex
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Anyone
- Healthy volunteers
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Not accepted
This study is not open to healthy volunteers. The entry requirements below say who it is open to.
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
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)
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
Locations
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Ospedale San Raffaele
Milan, 20132, Italy