Childhood-Onset Neurodegeneration With Brain Atrophy (CONDBA)Phase 1/2NCT07588581
Personalized Antisense Oligonucleotide for A Single Participant With UBTF Gene Mutation
A Phase 1/2 study testing nL-UBTF-001 in people with Childhood-Onset Neurodegeneration With Brain Atrophy (CONDBA), run by n-Lorem Foundation at 1 site in United States.
Trial summary
This research project entails delivery of a personalized antisense oligonucleotide (ASO) drug designed for a single participant with Childhood-Onset Neurodegeneration with Brain Atrophy (CONDBA) due to a heterozygous missense gain-of-function mutation in UBTF Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Childhood-Onset Neurodegeneration With Brain Atrophy (CONDBA)
- What is being tested?
- nL-UBTF-001
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 1 participants
- Where
- 1 siteUnited States
- Study dates
- 5 Feb 2025to Feb 2027
- 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 Any age
- 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
- Genetically confirmed CONDBA due to UBTF gene mutation
Who cannot join
- 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.
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 Childhood-Onset Neurodegeneration With Brain Atrophy (CONDBA) Caused by UBTF Gene Mutation
This research project entails delivery of a personalized antisense oligonucleotide (ASO) drug designed for a single participant with Childhood-Onset Neurodegeneration with Brain Atrophy (CONDBA) due to a heterozygous missense gain-of-function mutation in UBTF
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 participant with CONDBA due to a pathogenic heterozygous missense gain-of-function mutation in UBTF
- Being tested
- nL-UBTF-001
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
nL-UBTF-001Drug
Personalized antisense oligonucleotide
| Study group | Role | What they receive |
|---|---|---|
| Open Label | Experimental | Not described Receives: Drug: nL-UBTF-001 |
What is being measured
The primary outcome is the main question the study is designed to answer.
Gross Motor Function
Change in gross motor function from baseline to 6-, 12-, 18-, and 24-months post nL-UBTF-001 administration as measured by Brief Ataxia Rating Scale (BARS)
Measured: Baseline to 24-months
Gross Motor Function
Change in gross motor function from baseline to 6-, 12-, 18-, and 24-months post nL-UBTF-001 administration as measured by wrist/ankle accelerometers
Measured: Baseline to 24-months
Gross Motor Function
Change in gross motor function from baseline to 6-, 12-, 18-, and 24-months post nL-UBTF-001 administration as measured by Gross Motor Function Measure-88 (GMFM-88)
Measured: Baseline to 24-months
Gross Motor Function
Change in gross motor function from baseline to 6-, 12-, 18-, and 24-months post nL-UBTF-001 administration as measured by Vineland Adaptive Behavior Scales - Third Edition (Vineland-3)
Measured: Baseline to 24-months
Gross Motor Function
Change in gross motor function from baseline to 6-, 12-, 18-, and 24-months post nL-UBTF-001 administration as measured by home gait video assessments
Measured: Baseline to 24-months
Ataxia
Change in ataxia from baseline to 6-, 12-, 18-, and 24-months post nL-UBTF-001 administration as measured by Brief Ataxia Rating Scale (BARS)
Measured: Baseline to 24-months
Ataxia
Change in ataxia from baseline to 6-, 12-, 18-, and 24-months post nL-UBTF-001 administration as measured by wrist/ankle accelerometers
Measured: Baseline to 24-months
Ataxia
Change in ataxia from baseline to 6-, 12-, 18-, and 24-months post nL-UBTF-001 administration as measured by Gross Motor Function Measure-88 (GMFM-88)
Measured: Baseline to 24-months
Ataxia
Change in ataxia from baseline to 6-, 12-, 18-, and 24-months post nL-UBTF-001 administration as measured by Vineland Adaptive Behavior Scales - Version 3 (Vineland-3)
Measured: Baseline to 24-months
Ataxia
Change in ataxia from baseline to 6-, 12-, 18-, and 24-months post nL-UBTF-001 administration as measured by home gait video assessment
Measured: Baseline to 24-months
Quality of Life
Change in quality of life from baseline to 6-, 12-, 18-, and 24-months post nL-UBTF-001 administration as measured by Pediatric Quality of Life Inventory (PedsQL) Family Impact Module
Measured: Baseline to 24-months
Secondary outcomes (2)
Feeding Skills
Change in feeding skills from baseline to 6-, 12-, 18-, and 24-months post nL-UBTF-001 administration as measured by feeding and swallow assessments
Measured: Baseline to 24-months
Safety and Tolerability
Incidence and severity of treatment-emergent adverse events (AEs) post nL-UBTF-001 administration
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 posted15 May 2026
- Study start5 Feb 2025
- Primary completionFeb 2027 (estimated)
- Study completionFeb 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Childhood-Onset Neurodegeneration With Brain Atrophy (CONDBA)Studies of the same condition, open and under way.
- 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
- Masking
- None (open label)
- Enrolment
- 1 participants (actual)
Sponsor and investigators
- Lead sponsor
- n-Lorem Foundation
- Sponsor type
- University, hospital or other
- Collaborators
- Massachusetts General Hospital
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07588581
- Sponsor's protocol ID
- 2024P002134
- Status last verified
- May 2026
- First submitted
- 6 May 2026
- Last updated
- 15 May 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 15 May 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 Childhood-Onset Neurodegeneration With Brain Atrophy (CONDBA) Caused by UBTF Gene Mutation
- ClinicalTrials.gov ID
- NCT07588581
- Acronym / sponsor ID
- 2024P002134
- Phase
- Phase 1/2
- Study type
- Interventional
- Recruitment status
- Active, not recruiting
- Enrolment
- 1 participants (actual)
- Lead sponsor
- n-Lorem FoundationUniversity, hospital or other
- Collaborators
- Massachusetts General Hospital
- Study start
- 5 Feb 2025 (actual)
- Primary completion
- Feb 2027 (estimated)
- Study completion
- Feb 2027 (estimated)
- First posted
- 15 May 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 research project entails delivery of a personalized antisense oligonucleotide (ASO) drug designed for a single participant with Childhood-Onset Neurodegeneration with Brain Atrophy (CONDBA) due to a heterozygous missense gain-of-function mutation in UBTF
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 participant with CONDBA due to a pathogenic heterozygous missense gain-of-function mutation in UBTF
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Open Label | Experimental | Drug: nL-UBTF-001 |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (3 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
- Genetically confirmed CONDBA due to UBTF gene mutation
Key exclusion criteria (1 listed)
- 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 |
|---|---|---|
| nL-UBTF-001Personalized antisense oligonucleotide | Drug | Open Label |
Primary outcome
Gross Motor Function
Time frame: Baseline to 24-months
Change in gross motor function from baseline to 6-, 12-, 18-, and 24-months post nL-UBTF-001 administration as measured by Brief Ataxia Rating Scale (BARS)
Gross Motor Function
Time frame: Baseline to 24-months
Change in gross motor function from baseline to 6-, 12-, 18-, and 24-months post nL-UBTF-001 administration as measured by wrist/ankle accelerometers
Gross Motor Function
Time frame: Baseline to 24-months
Change in gross motor function from baseline to 6-, 12-, 18-, and 24-months post nL-UBTF-001 administration as measured by Gross Motor Function Measure-88 (GMFM-88)
Gross Motor Function
Time frame: Baseline to 24-months
Change in gross motor function from baseline to 6-, 12-, 18-, and 24-months post nL-UBTF-001 administration as measured by Vineland Adaptive Behavior Scales - Third Edition (Vineland-3)
Gross Motor Function
Time frame: Baseline to 24-months
Change in gross motor function from baseline to 6-, 12-, 18-, and 24-months post nL-UBTF-001 administration as measured by home gait video assessments
Ataxia
Time frame: Baseline to 24-months
Change in ataxia from baseline to 6-, 12-, 18-, and 24-months post nL-UBTF-001 administration as measured by Brief Ataxia Rating Scale (BARS)
Ataxia
Time frame: Baseline to 24-months
Change in ataxia from baseline to 6-, 12-, 18-, and 24-months post nL-UBTF-001 administration as measured by wrist/ankle accelerometers
Ataxia
Time frame: Baseline to 24-months
Change in ataxia from baseline to 6-, 12-, 18-, and 24-months post nL-UBTF-001 administration as measured by Gross Motor Function Measure-88 (GMFM-88)
Ataxia
Time frame: Baseline to 24-months
Change in ataxia from baseline to 6-, 12-, 18-, and 24-months post nL-UBTF-001 administration as measured by Vineland Adaptive Behavior Scales - Version 3 (Vineland-3)
Ataxia
Time frame: Baseline to 24-months
Change in ataxia from baseline to 6-, 12-, 18-, and 24-months post nL-UBTF-001 administration as measured by home gait video assessment
Quality of Life
Time frame: Baseline to 24-months
Change in quality of life from baseline to 6-, 12-, 18-, and 24-months post nL-UBTF-001 administration as measured by Pediatric Quality of Life Inventory (PedsQL) Family Impact Module
2 secondary outcomes
Feeding Skills
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 15 May 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. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
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 nL-UBTF-001 in people with Childhood-Onset Neurodegeneration With Brain Atrophy (CONDBA), run by n-Lorem Foundation 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 3 inclusion and 1 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: under way, not looking for participants, as of the sponsor's last update on 15 May 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?
Gross Motor Function (time frame: Baseline to 24-months). The study lists 11 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 15 May 2026.