An interventional study of Intrathecal and intravenous LV gene therapy in Metachromatic Leukodystrophy (MLD), sponsored by Shenzhen Geno-Immune Medical Institute. Not yet recruiting at 1 site in China. Open to participants aged 1 Month to 50 Years. Per ClinicalTrials.gov, last updated 2026-11-02.
Sponsored by Shenzhen Geno-Immune Medical Institute · Not applicable, Interventional, and Treatment
This is a Phase I/II clinical trial of gene therapy for treating Metachromatic leukodystrophy (MLD) using a safety and efficacy improved self-inactivating lentiviral vector TYF-ARSA to functionally correct the genetic defect. The primary objectives are to evaluate the safety and efficacy of the direct gene transfer clinical protocol.
Important Regulatory Notice:
This trial record is only for global academic information registration on ClinicalTrials.gov. Neither the sponsor Beijing Meikang Jimian Biotechnology Co., Ltd. nor collaborator Shenzhen Geno-Immune Medical Institute has obtained NMPA clinical trial approval or clinical technology filing permission to carry out interventional cell therapy trials in mainland China.
ClinicalTrials.gov registration alone does not represent legal approval by Chinese health and drug regulatory authorities.
Metachromatic leukodystrophy (MLD) is a rare lysosomal storage disease. This disease is an inherited single gene autosomal recessive defect. MLD is caused by a mutation in the ARSA gene encoding arylsulfatase A which leads to a deficiency in sulfatide degradation, resulting in its accumulation in oligodendrocytes, Schwann cells and neurons. A critical level of sulfatide storage can trigger demyelination, the hallmark of MLD, which results in multiple neurological symptoms. MLD has different onset ages including late infancy (1-2 years), adolescence (4 years-before sexual maturity) and adulthood (after sexual maturity). MLD patients are normally rescued by hematopoietic stem cell transplantation (HSCT) from a matched healthy donor. However, HSCT must be performed at a very early stage of the disease thus restricting its therapeutic opportunies in MLD patients. This trial aims to treat MLD using a safety and efficacy improved self-inactivating lentiviral vector (LV) carrying a functional MLD gene to correct the genetic defect by intrathecal (IT) and intravenous (IV) injections to delivery the lentiviral vector carrying a normal ARSA gene to correct the genetic defect. The primary objectives are to evaluate the safety of the improved LV TYF-ARSA and the direct injection gene transfer clinical protocol, the efficacy of degradative metabolite in patients after treatment, vector integration profile, and finally the long-term correction of the related pathological symptoms.
49 studies on the registry are indexed under Leukodystrophy, Metachromatic; 11 are open to participants now.
This study's planned enrollment of 10 is below the median of 19 across 28 interventional studies indexed under Leukodystrophy, Metachromatic.
Browse Leukodystrophy, Metachromatic studies →Shenzhen Geno-Immune Medical Institute is the lead sponsor of 70 studies on the registry; 44 are open to participants now.
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Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
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HIV
The human immunodeficiency virus, which weakens the immune system.
Many studies now accept people whose HIV is controlled on treatment, judged by the viral load and the CD4 count. Check the limits this study sets.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Intrathecal and intravenous injections with lentiviral TYF-ARSA vector carrying the functional gene
Genetic: Intrathecal and intravenous LV gene therapy
Direct IT and IV LV gene therapy to deliver high levels of LVs at 1-2×10\^9 transduction units/ml which carry a normal ARSA gene
Safety of IT and IV injections of lentiviral TYF-ARSA
Safety of IT and IV injections of lentiviral TYF-ARSA, determined by number of participants with treatment-related adverse events (AEs), according to scheduled assessments, vital signs, \& physical examinations as assessed by CTCAE v4.0. AEs \& clinically significant abnormalities (meeting grade 3, 4, or 5 criteria according to CTCAE) will be summarized by maximum intensity \& relationship to the study drug(s). The grade of AEs will be summarized if related to the treatment.
Time frame: up to 1 year follow up
Altered disease progression
Altered disease progression based on biochemical analysis.
Time frame: up to 3 year follow up after treatment
Altered disease progression
Altered disease progression based on MRI brain imaging analysis
Time frame: up to 3 year follow up after treatment
Plan to share: No
No publications or documents are linked to this record.
Start is estimated for May 2027; primary completion for Jun 2028, 12 months later.
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From the registry record's own update history. This site started tracking changes on Sep 25, 2026; for anything earlier, see the record history on ClinicalTrials.gov ↗
This study is not yet recruiting, as verified in Oct 2026. You cannot join it, but the record below documents what was studied.
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Leukodystrophy, Metachromatic →
Shenzhen Geno-Immune Medical Institute