Genetic DiseasePhase 1/2NCT06369974
Single Participant Study of an Experimental ASO Treatment for TUBB4A-related Leukodystrophy
A Phase 1/2 study testing Antisense oligonucleotide treatment (ASO) in people with Genetic Disease, run by Massachusetts General Hospital at 1 site in United States.
Trial summary
This research project entails delivery of a personalized antisense oligonucleotide (ASO) drug designed for a single pediatric participant with TUBB4A associated leukodystrophy. Read more about this study
- Who is it for?
- Ages 4 years and older
- Conditions the study is for
- Genetic Disease
- What is being tested?
- Antisense oligonucleotide treatment (ASO)
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 1 participants
- Where
- 1 siteUnited States
- Study dates
- 18 Sep 2024to Jun 2026
- Phase
- Phase 1/2
- 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 4 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- Informed consent/assent provided by the participant (when appropriate), and/or participant's parent(s) or legally authorized representative(s).
- Ability to travel to the study site and adhere to study-related follow-up examinations and/or procedures and provide access to participant's medical records.
- Clinical phenotype and neuroimaging consistent with a diagnosis of TUBB4A-related leukodystrophy/Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum (H-ABC)
- Documented genetic mutation in TUBB4A
Who cannot join
- Participant has any known contraindication to or unwillingness to undergo lumbar puncture
- Use of investigational medication within 5 half-lives of the drug at enrolment
- Participant has any condition that in the opinion of the Site Investigator, would ultimately prevent the completion of study procedures.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site
Massachusetts General Hospital
Boston, Massachusetts, 02114
About this study
Official title: An Open-label Single Center, Single Participant Study of an Experimental Antisense Oligonucleotide Treatment for TUBB4A-related Leukodystrophy
This research project entails delivery of a personalized antisense oligonucleotide (ASO) drug designed for a single pediatric participant with TUBB4A associated leukodystrophy.
Read the detailed description
This is an interventional study to evaluate the safety and efficacy of treatment with an individualized antisense oligonucleotide (ASO) treatment in a single pediatric participant with a de novo pathogenic gain of function TUBB4A mutation associated with severe leukodystrophy with hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC)
- Conditions
- Genetic Disease
- Being tested
- Antisense oligonucleotide treatment (ASO)
- Keywords
- leukodystrophy, antisense oligonucleotide, TUBB4A-related leukodystrophy, Hypomyelination, ASO
- Medical subject headings
- Genetic Diseases, Inborn
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Antisense oligonucleotide treatment (ASO)Drug
Also called nL-TUBB4-001
Drug: nL-TUBB4-001; Personalized antisense oligonucleotide
| Study group | Role | What they receive |
|---|---|---|
| Intervention | Experimental | Open Label Receives: Drug: Antisense oligonucleotide treatment (ASO) |
What is being measured
The primary outcome is the main question the study is designed to answer.
Neurological assessments
Change from baseline at 24 months post nL-TUBB4-001 administration in scores on the GMFM88, HINE-1, HINE-2, Bayley-4, and Vineland-3 developmental assessment scales, as well as the Tardieu Spasticity Scale and PedsQL Family Impact Module
Measured: Baseline to 24 months
Secondary outcomes (2)
Feeding and swallow evaluation
Change from baseline at 24 months post nL-TUBB4-001 administration in assessment of feeding and swallow evaluation.
Measured: Baseline to 24 months
Safety and tolerability
Safety and tolerability
Measured: Baseline to 24 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted17 Apr 2024
- Study start18 Sep 2024
- Primary completionJun 2026 (estimated)
- Study completionJun 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Genetic DiseaseStudies of the same condition, open and under way.
- More trials run by Massachusetts General HospitalThe 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 1/2
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Model description
- Single participant interventional study
- Masking
- None (open label)
- Enrolment
- 1 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Massachusetts General Hospital
- Sponsor type
- University, hospital or other
- Collaborators
- n-Lorem Foundation
- Responsible party
- Principal investigator, Florian Eichler, Massachusetts General Hospital
- Investigators
- Florian Eichler, MD, Principal investigator, Massachusetts General Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06369974
- Sponsor's protocol ID
- 2024P000386
- Status last verified
- Feb 2026
- First submitted
- 11 Mar 2024
- Last updated
- 2 Mar 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 2 Mar 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- An Open-label Single Center, Single Participant Study of an Experimental Antisense Oligonucleotide Treatment for TUBB4A-related Leukodystrophy
- ClinicalTrials.gov ID
- NCT06369974
- Acronym / sponsor ID
- 2024P000386
- Conditions
- Genetic Disease
- Keywords
- leukodystrophy, antisense oligonucleotide, TUBB4A-related leukodystrophy, Hypomyelination, ASO
- Phase
- Phase 1/2
- Study type
- Interventional
- Recruitment status
- Enrolling by invitation
- Enrolment
- 1 participants (estimated)
- Lead sponsor
- Massachusetts General HospitalUniversity, hospital or other
- Collaborators
- n-Lorem Foundation
- Study start
- 18 Sep 2024 (actual)
- Primary completion
- Jun 2026 (estimated)
- Study completion
- Jun 2026 (estimated)
- First posted
- 17 Apr 2024 (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 research project entails delivery of a personalized antisense oligonucleotide (ASO) drug designed for a single pediatric participant with TUBB4A associated leukodystrophy.
Detailed description
This is an interventional study to evaluate the safety and efficacy of treatment with an individualized antisense oligonucleotide (ASO) treatment in a single pediatric participant with a de novo pathogenic gain of function TUBB4A mutation associated with severe leukodystrophy with hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC)
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
- Model description
- Single participant interventional study
| Arm | Type | Receives |
|---|---|---|
| Intervention | Experimental | Drug: Antisense oligonucleotide treatment (ASO)Open Label |
Who may qualify
- Ages
- 4 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (4 listed)
- Informed consent/assent provided by the participant (when appropriate), and/or participant's parent(s) or legally authorized representative(s).
- Ability to travel to the study site and adhere to study-related follow-up examinations and/or procedures and provide access to participant's medical records.
- Clinical phenotype and neuroimaging consistent with a diagnosis of TUBB4A-related leukodystrophy/Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum (H-ABC)
- Documented genetic mutation in TUBB4A
Key exclusion criteria (3 listed)
- Participant has any known contraindication to or unwillingness to undergo lumbar puncture
- Use of investigational medication within 5 half-lives of the drug at enrolment
- Participant has any condition that in the opinion of the Site Investigator, would ultimately prevent the completion of study procedures.
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 |
|---|---|---|
| Antisense oligonucleotide treatment (ASO)Also: nL-TUBB4-001Drug: nL-TUBB4-001; Personalized antisense oligonucleotide | Drug | Intervention |
Primary outcome
Neurological assessments
Time frame: Baseline to 24 months
Change from baseline at 24 months post nL-TUBB4-001 administration in scores on the GMFM88, HINE-1, HINE-2, Bayley-4, and Vineland-3 developmental assessment scales, as well as the Tardieu Spasticity Scale and PedsQL Family Impact Module
2 secondary outcomes
Feeding and swallow evaluation
Time frame: Baseline to 24 months
Safety and tolerability
Time frame: Baseline to 24 months
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 Mar 2026.
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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.
Florian Eichler, MD principal investigator
Massachusetts General Hospital
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 1/2 study testing Antisense oligonucleotide treatment (ASO) in people with Genetic Disease, run by Massachusetts General Hospital at 1 site in United States.
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 4 inclusion and 3 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: enrolling by invitation, as of the sponsor's last update on 2 Mar 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 United States. 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.
What does this combined phase mean?
Phase 1 studies test a treatment in a small group of people for the first time or in a new way, mainly to check safety and find the right dose.
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
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?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Neurological assessments (time frame: Baseline to 24 months). 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 Mar 2026.