Single Participant Study of an Experimental ASO Treatment... | NCT06369974

Studies
Single Participant Study of an Experimental ASO Treatment for TUBB4A-related Leukodystrophy

NCT06369974

Sponsor

Massachusetts General Hospital

Status

Enrolling by invitation

Last Update Posted

Mar 2, 2026Actual

Enrollment

1Estimated

Phase

Phase 1Phase 2

Conditions

Genetic Disease

Interventions

Antisense oligonucleotide treatment (ASO)

Countries

United States

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Feb 2026

Overall Recruitment Status or Expanded Access Status

Enrolling by invitation

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Not provided

Start Date

Sep 18, 2024Actual

Primary Completion Date

Jun 2026Estimated

Completion Date

Jun 2026Estimated

First Submitted Date

Mar 11, 2024

First Submission Date that Met QC Criteria

Apr 16, 2024

First Posted Date

Apr 17, 2024Actual

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Feb 26, 2026

Last Update Posted Date

Mar 2, 2026Actual

Name	Class
n-Lorem Foundation	OTHER

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Yes

Is FDA Regulated Device

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

Brief Summary

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)

Design Module

Study Type

Interventional

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Not provided

Target Follow-Up Duration

Not provided

Phases

Phase 1Phase 2

Interventional Study Design

Allocation

Biospecimen

No data available

No data is available for this block.

Enrollment

1Estimated

Arms/Interventions Module

Arm Groups

Label	Type	Description	Intervention Names
Intervention	Experimental	Open Label	Drug: Antisense oligonucleotide treatment (ASO)

Interventions

Name	Type	Description	Arm Group Labels	Other Names
Antisense oligonucleotide treatment (ASO)	Drug	Drug: nL-TUBB4-001; Personalized antisense oligonucleotide	Intervention

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
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	Baseline to 24 months

Secondary Outcomes

Measure	Description	Time Frame
Feeding and swallow evaluation	Change from baseline at 24 months post nL-TUBB4-001 administration in assessment of feeding and swallow evaluation.	Baseline to 24 months
Safety and tolerability

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

Inclusion Criteria:

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

Exclusion Criteria:

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.

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

4 Years

Maximum Age

Not provided

Standard Ages

ChildAdultOlder Adult

Study Population

Not provided

Sampling Method

Not provided

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Name	Affiliation	Role
Florian Eichler, MD	Massachusetts General Hospital	Principal Investigator

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Massachusetts General Hospital		Boston	Massachusetts	02114	United States

Condition Browse Module

MeSH Terms

ID	Term
D030342	Genetic Diseases, Inborn

Ancestor Terms

ID	Term
D009358	Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Browse Leaves

Not provided

Browse Branches

Not provided