Experimental Antisense Oligonucleotide for DRPLA with ATN1 Mutation
This 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.
nL-ATN1-001
Epileptic Syndromes+5
+ Brain Diseases
+ Central Nervous System Diseases
Treatment Study
Summary
Study start date: November 1, 2025
Actual 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.
Protocol
This section provides details of the study plan, including how the study is designed and what the study is measuring.1 patient to be enrolled
Total number of participants that the clinical trial aims to recruit.Treatment Study
Eligibility
Researchers look for people who fit a certain description, called eligibility criteria: person's general health condition or prior treatments.Male
Biological sex of participants that are eligible to enroll.Over 22 Years
Range of ages for which participants are eligible to join.Healthy volunteers not allowed
If individuals who are healthy and do not have the condition being studied can participate.Conditions
Pathology
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 * Genetically confirmed Dentatorubral-pallidoluysian atrophy (DRPLA) due to ATN1 mutation Exclusion Criteria: * 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.One single intervention group is designated in this study
This study does not include a placebo group
Treatment Groups
Group I
ExperimentalStudy Objectives
Primary Objectives
Secondary Objectives
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