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Experimental Antisense Oligonucleotide for DRPLA with ATN1 Mutation

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Study AimThis study aims to evaluate the safety and tolerability of an experimental antisense oligonucleotide treatment in individuals with Dentatorubral-Pallidoluysian Atrophy who have the ATN1 mutation.
What is being tested

nL-ATN1-001

Drug
Who is being recruted

Dentatorubral-Pallidoluysian Atrophy

Over 22 Years
+5 Eligibility Criteria

See all eligibility criteria

How is the trial designed

Treatment Study

Phase 1
Interventional
Study Start: November 2025

See protocol details

Summary

Principal Sponsorn-Lorem Foundation
Last updated: October 28, 2025
Sourced from a government-validated database.Claim as a partner
Study start date: November 1, 2025Actual date on which the first participant was enrolled.

This clinical trial focuses on evaluating a new treatment approach for a rare genetic disorder called Dentatorubral-pallidoluysian Atrophy (DRPLA), which is caused by a specific mutation in the ATN1 gene. The study is designed to test the safety and effectiveness of a new drug called antisense oligonucleotide (ASO) in a single participant. DRPLA is a serious condition that affects movement and mental functions due to genetic changes, and finding effective treatments is crucial as current options are limited. In this study, the participant receives the experimental ASO treatment, which is customized for their specific genetic mutation. The treatment is administered, and researchers closely monitor the participant to assess how safe the treatment is and how well it works. Although no specific outcomes are listed, the study likely involves regular check-ups and tests to observe any changes in symptoms or side effects, helping researchers understand the potential benefits and risks of this new approach for DRPLA.

Official TitleAn Open-label Single Center, Single Participant Study of an Experimental Antisense Oligonucleotide Treatment for Dentatorubral-pallidoluysian Atrophy (DRPLA) Due to ATN1 Mutation 
Principal Sponsorn-Lorem Foundation
Last updated: October 28, 2025
Sourced from a government-validated database.Claim as a partner

Protocol

This section provides details of the study plan, including how the study is designed and what the study is measuring.
Design Details
1 patient to be enrolledTotal number of participants that the clinical trial aims to recruit.
Treatment Study
These studies test new ways to treat a disease, condition, or health issue. The goal is to see if a new drug, therapy, or approach works better or has fewer side effects than existing options.

How participants are assigned to different groups/arms
In this clinical study, all participants receive the same treatment. Since there is only one group, there is no need for randomization or assignment to different arms. This type of study is often used to test a new treatment without comparing it to another.

Other Ways to Assign Participants
Randomized allocation: Participants are assigned randomly, like flipping a coin, to ensure fairness and reduce bias.
Non-randomized allocation: Participants are assigned based on specific factors, such as their medical condition or a doctor's decision.

How treatments are given to participants
In this study, all participants receive the same treatment. This approach is often used to evaluate the effects of a single intervention without comparing it to another.

Other Ways to Assign Treatments
Parallel assignment: Participants are split into separate groups, each receiving a different treatment.
Cross-over assignment: Participants switch between treatments during the study.
Factorial assignment: Participants receive different combinations of treatments.
Sequential assignment: Participants receive treatments one after another in a specific order, possibly based on individual responses.
Other assignment: Treatment assignment does not follow a standard or predefined design.

How the effectiveness of the treatment is controlled
In a non placebo-controlled study, no participants receive an inert substance (placebo) to compare outcomes. Instead, all participants receive either the experimental treatment or an alternative treatment (often the Standard of Care). This method allows researchers to compare the effects of the experimental treatment with those of a different active intervention, rather than a placebo.

Other Options
Placebo-Controlled: A placebo is used to compare the effects of the experimental treatment with those of an inert substance, isolating the true treatment effect.

How the interventions assigned to participants is kept confidential
Everyone involved in the study knows which treatment is being given. This is typically used when it's not possible or necessary to hide the treatment details from participants or researchers.

Other Ways to Mask Information
Single-blind: Participants do not know which treatment they are receiving, but researchers do.
Double-blind: Neither participants nor researchers know which treatment is given.
Triple-blind: Participants, researchers, and outcome assessors do not know which treatment is given.
Quadruple-blind: Participants, researchers, outcome assessors, and care providers all do not know which treatment is given.

Eligibility

Researchers look for people who fit a certain description, called eligibility criteria: person's general health condition or prior treatments.
Conditions
Criteria
MaleBiological sex of participants that are eligible to enroll.
Over 22 YearsRange of ages for which participants are eligible to join.
Healthy volunteers not allowedIf individuals who are healthy and do not have the condition being studied can participate.
Conditions
Pathology
Dentatorubral-Pallidoluysian Atrophy
Criteria
3 inclusion criteria required to participate
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 Dentatorubral-pallidoluysian atrophy (DRPLA) due to ATN1 mutation
2 exclusion criteria prevent from participating
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

Study Plan

Find out more about all the medication administered in this study, their detailed description and what they involve.
Treatment Groups
Study Objectives
One single intervention group 

is designated in this study

This study does not include a placebo group 

Treatment Groups
Group I
Experimental
Study Objectives
Primary Objectives

Change in seizure length from baseline to every 3 months post nL-ATN1-002 administration as measured by routine electroencephalography (EEG) (changes in frequency of ictal and interictal discharges, evoked potentials, and changes in EEG background)

Change in seizure length from baseline to every 3 months post nL-ATN1-002 administration as measured by seizure tracking (changes in number and length of seizures)

Change in seizure frequency and seizure medication use from baseline to every 3 months post nL-ATN1-002 administration as measured by seizure tracking (reported with seizure dates and use of seizure medication)
Secondary Objectives

Change in quality of life and caregiver burden from baseline to 6-, 12-, 18-, and 24- months post nL-ATN1-002 administration as measured by the Caregiver Priorities and Child Health Index of Life with Disabilities (CPCHILD)

Change in quality of life and caregiver burden from baseline to 6-, 12-, 18-, and 24- months post nL-ATN1-002 administration as measured by Caregiver Global Impression of Change Questionnaire (CaGL-C)

Change in comorbities from baseline to 6-, 12-, 18-, and 24-months post nL-ARN1-002 administration as measured by the Caregiver Priorities - Comorbidities and Health Evaluation Checklist (CPCHECKlist)

Change in swallow function and number of aspiration pneumonias (PNAs) from baseline to 12- and 24-months post nL-ATN1-002 administration as measured by Modified Barium Swallow Study (MBSS)

Change in swallow function and number of aspiration pneumonias (PNAs) from baseline to 12- and 24-months post nL-ATN1-002 administration as measured by adverse events of aspiration PNAs

Study Centers

These are the hospitals, clinics, or research facilities where the trial is being conducted. You can find the location closest to you and its status.
This study has 1 location
Suspended
Dell Children'sAustin, United StatesSee the location
Recruiting soonOne Study Center