Hereditary Homocysteine Remethylation DisorderNCT07757685
Autologous Hematopoietic Stem Cell Transplantation for Neurological Damage Associated With Hereditary Homocysteine Remethylation Disorders
A study testing Autologous Hematopoietic Stem Cell Transplantation in people with Hereditary Homocysteine Remethylation Disorder, run by Institute of Hematology & Blood Diseases Hospital, China at 2 sites in China.
Trial summary
This study aims to evaluate the safety, feasibility, and preliminary efficacy of autologous hematopoietic stem cell transplantation (ASCT) in the treatment of neurological damage associated with hereditary homocysteine remethylation disorders. Read more about this study
- Who is it for?
- Ages 18 to 55 years
- Conditions the study is for
- Hereditary Homocysteine Remethylation Disorder
- What is being tested?
- Autologous Hematopoietic Stem Cell Transplantation
- Type of treatment
- Injection or infusion
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 50 participants
- Where
- 2 sitesChina
- Study dates
- 1 Aug 2026to 31 Jul 2030
- 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 18 to 55 years
- All sexes
- No healthy volunteers
- Adult
Who may be able to join
- Aged 18 to 55 years, regardless of gender.
- Comprehensive clinical, biochemical, and genetic diagnosis of hereditary homocysteine remethylation disorders.
- Evidence of neurological involvement, including but not limited to gait disturbance, balance impairment, cognitive dysfunction, cerebral white matter lesions.
- Prior standardized metabolic therapy (folic acid, vitamin B12, betaine) with suboptimal clinical response.
- Persistent severe metabolic abnormality, i.e., sustained elevated homocysteine (>50 umol/L).
- Multidisciplinary consensus confirming lack of effective alternative therapies and ongoing risk of disease progression.
- Voluntary participation, signed informed consent, adequate treatment adherence, and willingness to complete follow-up assessments.
Who cannot join
- Prior hematopoietic stem cell transplantation or other cell transplantation.
- Severe dysfunction of critical organs (heart, lung, liver, kidney) deemed incompatible with study treatment by investigators.
- Active, uncontrolled infection.
- Active tuberculosis, hepatitis B, hepatitis C, HIV infection, or other infectious diseases judged inappropriate for enrollment by investigators.
- Active malignancy or prior malignant history that may confound safety and efficacy evaluations.
- Severe underlying comorbidities likely to interfere with study treatment or outcome assessment.
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- Severe psychiatric disorder or cognitive impairment with poor adherence precluding completion of treatment and follow-up.
- Pregnant or lactating females, or participants unwilling to use effective contraception throughout the study period.
- Severe hypersensitivity to any study-related medication or intervention.
- Participation in other interventional clinical trials within the past 4 weeks or ongoing observation period of another clinical trial.
- No documented disease progression within the preceding 12 months.
- Minimal neurological symptoms with no meaningful impact on activities of daily living and low short-term progression risk per investigator assessment.
- Established standard therapies proven to alter natural disease history with stable disease and satisfactory therapeutic response.
- End-stage disease with extensive irreversible neurological impairment (severe motor/cognitive failure or multi-organ dysfunction) with minimal expected therapeutic benefit.
- Any other conditions deemed unsuitable for study participation by investigators.
Trial locations and contacts
2 sites in 1 country. Contact the study team or a site near you to ask about taking part.
China2 sites
Institute of Hematology & Blood Diseases Hospital, China
Tianjin, Tianjin Municipality, 300020
Jiang erlie, 15122538106, jiangerlie@ihcams.ac.cn
General Hospital of Tianjin Medical University
Tianjin, Tianjin Municipality, 300070
liu qiang, 15802284809, qliu@tmu.edu.cn
About this study
Official title: Exploratory Clinical Study of Autologous Hematopoietic Stem Cell Transplantation for Neurological Damage Associated With Hereditary Homocysteine Remethylation Disorders
This study aims to evaluate the safety, feasibility, and preliminary efficacy of autologous hematopoietic stem cell transplantation (ASCT) in the treatment of neurological damage associated with hereditary homocysteine remethylation disorders. Meanwhile, peripheral blood, cerebrospinal fluid, and related clinical samples will be prospectively collected before and after transplantation to dynamically monitor changes in immune reconstitution and neuroinflammatory biomarkers. The study intends to explore the impact of immune system resetting on disease progression and central nervous system immune microenvironment, providing evidence for subsequent precise patient stratification and optimized therapeutic strategies.
- Being tested
- Autologous Hematopoietic Stem Cell Transplantation
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Autologous Hematopoietic Stem Cell TransplantationOther
ASCT Regimen
- Autologous hematopoietic stem cell collection Mobilization with chemotherapy plus cytokines:
- Cyclophosphamide: 30 mg/kg/d, administered intravenously for 2 consecutive days.
- G-CSF: 5-10 μg/kg/d subcutaneous injection for 5 consecutive days. Collection target: CD34+ cells ≥ 2×10⁶/kg; repeat leukapheresis permitted to meet target dose.
- Conditioning Regimen:
- Thiotepa: 5 mg/kg/d Day -7
- Fludarabine: 5 mg/kg/d Days -6 to -2 (5 total days)
- Rituximab: 375 mg/m² Day -1
- Stem cell infusion: Day 0 Infusion dose: ≥ 2×10⁶ CD34+ cells/kg
| Study group | Role | What they receive |
|---|---|---|
| Patients comprehensively diagnosed with hereditary homocysteine remethylation disorders with neurolo | Experimental | Not described Receives: Other: Autologous Hematopoietic Stem Cell Transplantation |
What is being measured
The primary outcome is the main question the study is designed to answer.
Primary Endpoint: Incidence of adverse events within 100 days post ASCT
Measured: 100 days post ASCT
Secondary outcomes (9)
Success rate of autologous hematopoietic stem cell collection
Measured: Within 3 days after initiation of stem cell collection
Time to neutrophil engraftment
Measured: 28 days post ASCT
Time to platelet engraftment
Measured: 1 year post ASCT
1-year overall survival post ASCT
Measured: 1-year post ASCT
Changes in neurological functional scores
Measured: from baseline to 1 year after ASCT
Changes in MRI lesions
Measured: from baseline to 1 year after ASCT
PET-CT findings
Measured: from baseline to 1 year after ASCT
Kinetics of peripheral immune reconstitution
Measured: from baseline to 1 year after ASCT
Changes in inflammatory and neuronal injury biomarkers
Measured: from baseline to 1 year after ASCT
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted11 Aug 2026
- Study start1 Aug 2026 (estimated)
- Primary completion31 Jul 2030 (estimated)
- Study completion31 Jul 2030 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Hereditary Homocysteine Remethylation DisorderStudies of the same condition, open and under way.
- More trials run by Institute of Hematology & Blood Diseases Hospital, ChinaThe 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
- 50 participants (estimated)
Sponsor and investigators
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07757685
- Sponsor's protocol ID
- IIT2026053
- Status last verified
- Aug 2026
- First submitted
- 21 Jul 2026
- Last updated
- 11 Aug 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 11 Aug 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Exploratory Clinical Study of Autologous Hematopoietic Stem Cell Transplantation for Neurological Damage Associated With Hereditary Homocysteine Remethylation Disorders
- ClinicalTrials.gov ID
- NCT07757685
- Acronym / sponsor ID
- IIT2026053
- Study type
- Interventional
- Recruitment status
- Not yet recruiting
- Enrolment
- 50 participants (estimated)
- Lead sponsor
- Institute of Hematology & Blood Diseases Hospital, ChinaUniversity, hospital or other
- Study start
- 1 Aug 2026 (estimated)
- Primary completion
- 31 Jul 2030 (estimated)
- Study completion
- 31 Jul 2030 (estimated)
- First posted
- 11 Aug 2026 (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 study aims to evaluate the safety, feasibility, and preliminary efficacy of autologous hematopoietic stem cell transplantation (ASCT) in the treatment of neurological damage associated with hereditary homocysteine remethylation disorders. Meanwhile, peripheral blood, cerebrospinal fluid, and related clinical samples will be prospectively collected before and after transplantation to dynamically monitor changes in immune reconstitution and neuroinflammatory biomarkers. The study intends to explore the impact of immune system resetting on disease progression and central nervous system immune microenvironment, providing evidence for subsequent precise patient stratification and optimized therapeutic strategies.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Patients comprehensively diagnosed with hereditary homocysteine remethylation disorders with neurolo | Experimental | Other: Autologous Hematopoietic Stem Cell Transplantation |
Who may qualify
- Ages
- 18 to 55 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult
Key inclusion criteria (7 listed)
- Aged 18 to 55 years, regardless of gender.
- Comprehensive clinical, biochemical, and genetic diagnosis of hereditary homocysteine remethylation disorders.
- Evidence of neurological involvement, including but not limited to gait disturbance, balance impairment, cognitive dysfunction, cerebral white matter lesions.
- Prior standardized metabolic therapy (folic acid, vitamin B12, betaine) with suboptimal clinical response.
- Persistent severe metabolic abnormality, i.e., sustained elevated homocysteine (>50 umol/L).
Key exclusion criteria (15 listed)
- Prior hematopoietic stem cell transplantation or other cell transplantation.
- Severe dysfunction of critical organs (heart, lung, liver, kidney) deemed incompatible with study treatment by investigators.
- Active, uncontrolled infection.
- Active tuberculosis, hepatitis B, hepatitis C, HIV infection, or other infectious diseases judged inappropriate for enrollment by investigators.
- Active malignancy or prior malignant history that may confound safety and efficacy evaluations.
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 |
|---|---|---|
| Autologous Hematopoietic Stem Cell TransplantationASCT Regimen 1. Autologous hematopoietic stem cell collection Mobilization with chemotherapy plus cytokines: * Cyclophosphamide: 30 mg/kg/d, administered intravenously for 2 consecutive days. * G-CSF: 5-10 μg/kg/d subcutaneous injection for 5 consecutive days. Collection target: CD34+ cells ≥ 2×10⁶/kg; repeat leukapheresis permitted to meet target dose. 2. Conditioning Regimen: * Thiotepa: 5 mg/kg/d Day -7 * Fludarabine: 5 mg/kg/d Days -6 to -2 (5 total days) * Rituximab: 375 mg/m² Day -1 3. Stem cell infusion: Day 0 Infusion dose: ≥ 2×10⁶ CD34+ cells/kg | Other | Patients comprehensively diagnosed with hereditary homocysteine remethylation disorders with neurolo |
Primary outcome
Primary Endpoint: Incidence of adverse events within 100 days post ASCT
Time frame: 100 days post ASCT
9 secondary outcomes
Success rate of autologous hematopoietic stem cell collection
Time frame: Within 3 days after initiation of stem cell collection
Time to neutrophil engraftment
Time frame: 28 days post ASCT
Time to platelet engraftment
Time frame: 1 year post ASCT
1-year overall survival post ASCT
Time frame: 1-year post ASCT
Changes in neurological functional scores
Time frame: from baseline to 1 year after ASCT
Changes in MRI lesions
Time frame: from baseline to 1 year after ASCT
PET-CT findings
Time frame: from baseline to 1 year after ASCT
Kinetics of peripheral immune reconstitution
Time frame: from baseline to 1 year after ASCT
Changes in inflammatory and neuronal injury biomarkers
Time frame: from baseline to 1 year after ASCT
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 11 Aug 2026.
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.
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Autologous Hematopoietic Stem Cell Transplantation in people with Hereditary Homocysteine Remethylation Disorder, run by Institute of Hematology & Blood Diseases Hospital, China at 2 sites 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 7 inclusion and 15 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 11 Aug 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites 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 Jiang erlie (15122538106, jiangerlie@ihcams.ac.cn), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Primary Endpoint: Incidence of adverse events within 100 days post ASCT (time frame: 100 days post ASCT). 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 11 Aug 2026; AzTrials last refreshed its copy on 8 Nov 2026.