X-linked AdrenoleukodystrophyNCT03727555
IT and IV Lentiviral Gene Therapy for X-ALD
A study testing Intrathecal and intravenous LV gene therapy in people with X-linked Adrenoleukodystrophy, run by Shenzhen Geno-Immune Medical Institute at 1 site in China.
Trial summary
This is a Phase I/II clinical trial of gene therapy for treating X-linked adrenoleukodystrophy using a high-safety, high-efficiency, self-inactivating lentiviral vector (LV) TYF-ABCD1 to functionally correct the defective gene. Read more about this study
- Who is it for?
- Ages 1 year to 60 years
- Conditions the study is for
- X-linked Adrenoleukodystrophy
- What is being tested?
- Intrathecal and intravenous LV gene therapy
- Type of treatment
- Injection or infusion
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 30 participants
- Where
- 1 siteChina
- Study dates
- 1 Jun 2027to 31 Dec 2028
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 year to 60 years
- All sexes
- No healthy volunteers
- Child, Adult
Who may be able to join
- X-ALD patients ≥ 1 year of age
- ALD diagnosis of the brain: evaluation of the VLCFA value in plasma
- Central imaging of the MRI to examine the damage on the CNS.
- Neurological function score (NFS) ≥ 1
- Parent / guardian / patient signing informed consent
- Patients and their families have a strong willingness to participate in clinical trials, and are willing to bear all the consequences caused by the failure of the trial, and sign an informed consent form
Who cannot join
- HIV positive patients
- Stablized condition after statins, Lorenzo's oil, or diet to reduce VLCFA levels
- Patients who are experiencing severe viral, bacterial or fungal infections, malignant tumors, heart abnormalities, liver dysfunction, or renal insufficiency
- Cannot perform an MRI
- Infection or dermatosis at pre-injection site
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
China1 site
Shenzhen Geno-immune Medical Institute
Shenzhen, Guangdong, 518000
Lung-Ji Chang, PhD, 86-13671121909, c@mkgimi.com
About this study
Official title: Intrathecal and Intravenous Lentiviral Gene Therapy for X-linked Adrenoleukodystrophy (X-ALD)
This is a Phase I/II clinical trial of gene therapy for treating X-linked adrenoleukodystrophy using a high-safety, high-efficiency, self-inactivating lentiviral vector (LV) TYF-ABCD1 to functionally correct the defective gene. The objectives are to evaluate the safety and efficacy of the intrathecal and intravenous lentiviral gene transfer clinical protocol.
Read the detailed description
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.
X-linked adrenoleukodystrophy (X-ALD) is a devastating neurological disorder caused by mutations in the ABCD1 gene that encodes a peroxisomal ATP-binding cassette transporter (ABCD1). ABCD1 is responsible for transport of CoA-activated very long-chain fatty acids (VLCFA) into the peroxisome for degradation. X-ALD is clinically characterized with two main phenotypes: adrenomyeloneuropathy (AMN) and the inflammatory cerebral ALD. This disease presents most commonly in males. Approximately 50% of heterozygote females show some symptoms later in life. Approximately two-thirds of ALD patients will present with the childhood cerebral form of the disease, which is the most severe form. The disease is characterized by normal development in early childhood, followed by rapid degeneration to a vegetative state. ALD patients are normally treated with hematopoietic stem cell transplantation (HSCT) from a matched healthy donor. However, HSCT must be performed at a very early stage of the disease, which limits the therapeutic opportunities for juvenile or adult forms of ALD. This trial aims to treat ALD using a safety and efficiency improved self-inactivating lentiviral vector carrying a functional ABCD1 gene via intrathecal (IT) and intravenous (IV) injections to directly correct the genetic defect. This protocol targets not only early stage patients but also patients with symptoms. The direct LV injection approach aims to correct the pathologies associated with this genetic defect, and the IT and IV LV injections substantially simplify the treatment process, which reduces the risk associated with myeloablative chemotherapy during the HSCT treatment.
The objectives are to evaluate the safety of the advanced self-inactivating LV TYF-ABCD1, the direct in vivo gene transfer clinical protocol and the efficacy of the treatment, including assessment of vector distribution and the potential long-term correction of the ALD disease phenotype.
- Conditions
- X-linked Adrenoleukodystrophy
- Being tested
- Intrathecal and intravenous LV gene therapy
- Keywords
- X-linked adrenoleukodystrophy, Lentiviral vector, Intrathecal injection, Intravenous injection
- Medical subject headings
- Adrenoleukodystrophy
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Intrathecal and intravenous LV gene therapyGenetic
Direct IT and IV LV gene therapy to deliver high levels of LVs at 1-2×10^9 multiplicity of infection/ml which carry normal ABCD1 gene
| Study group | Role | What they receive |
|---|---|---|
| Lentivirus-mediated delivery of ABCD1 to the CNS and the body | Experimental | Intrathecal and intravenous injections with lentiviral TYF-ABCD1 vector carrying the functional gene Receives: Genetic: Intrathecal and intravenous LV gene therapy |
What is being measured
The primary outcome is the main question the study is designed to answer.
Safety evaluation of IT and IV injections of lentiviral TYF-ABCD1, 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.
Safety of direct IT and IV injections of lentiviral TYF-ABCD1, 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 study drug(s). Grade 1 \& 2 AEs will be summarized if related to study therapy.
Measured: Minimum 1 day, maximum 1 year follow up
Altered disease progression
Altered disease progression based on biochemicaland neurological analysis.
Measured: Minimum 6 months, maximum 3 year follow up
Assess disease progression
Assess disease progression based on MRI brain imaging analysis.
Measured: Minimum 6 months, maximum 3 year follow up
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted1 Nov 2018
- Study start1 Jun 2027 (estimated)
- Primary completion31 May 2028 (estimated)
- Study completion31 Dec 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for X-linked AdrenoleukodystrophyStudies of the same condition, open and under way.
- More trials run by Shenzhen Geno-Immune Medical InstituteThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 30 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Shenzhen Geno-Immune Medical Institute
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03727555
- Sponsor's protocol ID
- GIMI-IRB-18006
- Status last verified
- Oct 2026
- First submitted
- 25 Sep 2018
- Last updated
- 2 Nov 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 2 Nov 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Intrathecal and Intravenous Lentiviral Gene Therapy for X-linked Adrenoleukodystrophy (X-ALD)
- ClinicalTrials.gov ID
- NCT03727555
- Acronym / sponsor ID
- GIMI-IRB-18006
- Conditions
- X-linked Adrenoleukodystrophy
- Keywords
- X-linked adrenoleukodystrophy, Lentiviral vector, Intrathecal injection, Intravenous injection
- Study type
- Interventional
- Recruitment status
- Not yet recruiting
- Enrolment
- 30 participants (estimated)
- Lead sponsor
- Shenzhen Geno-Immune Medical InstituteUniversity, hospital or other
- Study start
- 1 Jun 2027 (estimated)
- Primary completion
- 31 May 2028 (estimated)
- Study completion
- 31 Dec 2028 (estimated)
- First posted
- 1 Nov 2018 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
This is a Phase I/II clinical trial of gene therapy for treating X-linked adrenoleukodystrophy using a high-safety, high-efficiency, self-inactivating lentiviral vector (LV) TYF-ABCD1 to functionally correct the defective gene. The objectives are to evaluate the safety and efficacy of the intrathecal and intravenous lentiviral gene transfer clinical protocol.
Detailed description
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.
X-linked adrenoleukodystrophy (X-ALD) is a devastating neurological disorder caused by mutations in the ABCD1 gene that encodes a peroxisomal ATP-binding cassette transporter (ABCD1). ABCD1 is responsible for transport of CoA-activated very long-chain fatty acids (VLCFA) into the peroxisome for degradation. X-ALD is clinically characterized with two main phenotypes: adrenomyeloneuropathy (AMN) and the inflammatory cerebral ALD. This disease presents most commonly in males. Approximately 50% of heterozygote females show some symptoms later in life. Approximately two-thirds of ALD patients will present with the childhood cerebral form of the disease, which is the most severe form. The disease is characterized by normal development in early childhood, followed by rapid degeneration to a vegetative state. ALD patients are normally treated with hematopoietic stem cell transplantation (HSCT) from a matched healthy donor. However, HSCT must be performed at a very early stage of the disease, which limits the therapeutic opportunities for juvenile or adult forms of ALD. This trial aims to treat ALD using a safety and efficiency improved self-inactivating lentiviral vector carrying a functional ABCD1 gene via intrathecal (IT) and intravenous (IV) injections to directly correct the genetic defect. This protocol targets not only early stage patients but also patients with symptoms. The direct LV injection approach aims to correct the pathologies associated with this genetic defect, and the IT and IV LV injections substantially simplify the treatment process, which reduces the risk associated with myeloablative chemotherapy during the HSCT treatment.
The objectives are to evaluate the safety of the advanced self-inactivating LV TYF-ABCD1, the direct in vivo gene transfer clinical protocol and the efficacy of the treatment, including assessment of vector distribution and the potential long-term correction of the ALD disease phenotype.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Lentivirus-mediated delivery of ABCD1 to the CNS and the body | Experimental | Genetic: Intrathecal and intravenous LV gene therapyIntrathecal and intravenous injections with lentiviral TYF-ABCD1 vector carrying the functional gene |
Who may qualify
- Ages
- 1 year to 60 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
Key inclusion criteria (6 listed)
- X-ALD patients ≥ 1 year of age
- ALD diagnosis of the brain: evaluation of the VLCFA value in plasma
- Central imaging of the MRI to examine the damage on the CNS.
- Neurological function score (NFS) ≥ 1
- Parent / guardian / patient signing informed consent
Key exclusion criteria (5 listed)
- HIV positive patients
- Stablized condition after statins, Lorenzo's oil, or diet to reduce VLCFA levels
- Patients who are experiencing severe viral, bacterial or fungal infections, malignant tumors, heart abnormalities, liver dysfunction, or renal insufficiency
- Cannot perform an MRI
- Infection or dermatosis at pre-injection site
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Intrathecal and intravenous LV gene therapyDirect IT and IV LV gene therapy to deliver high levels of LVs at 1-2×10^9 multiplicity of infection/ml which carry normal ABCD1 gene | Genetic | Lentivirus-mediated delivery of ABCD1 to the CNS and the body |
Primary outcome
Safety evaluation of IT and IV injections of lentiviral TYF-ABCD1, 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.
Time frame: Minimum 1 day, maximum 1 year follow up
Safety of direct IT and IV injections of lentiviral TYF-ABCD1, 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 study drug(s). Grade 1 \& 2 AEs will be summarized if related to study therapy.
Altered disease progression
Time frame: Minimum 6 months, maximum 3 year follow up
Altered disease progression based on biochemicaland neurological analysis.
Assess disease progression
Time frame: Minimum 6 months, maximum 3 year follow up
Assess disease progression based on MRI brain imaging analysis.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 2 Nov 2026.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Intrathecal and intravenous LV gene therapy in people with X-linked Adrenoleukodystrophy, run by Shenzhen Geno-Immune Medical Institute at 1 site in China.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 6 inclusion and 5 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: opening soon, as of the sponsor's last update on 2 Nov 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in China. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Lung-Ji Chang, Ph.D (86-13671121909, c@mkgimi.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Safety evaluation of IT and IV injections of lentiviral TYF-ABCD1, 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. (time frame: Minimum 1 day, maximum 1 year follow up). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 2 Nov 2026.