225 Participants Needed

Biomarkers Study for Dentatorubral-Pallidoluysian Atrophy

(DRPLA NHBS Trial)

Recruiting at 2 trial locations
PG
HG
Overseen ByHector Garcia-Moreno
Age: Any Age
Sex: Any
Trial Phase: Academic
Sponsor: University College, London
No Placebo GroupAll trial participants will receive the active study treatment (no placebo)

What You Need to Know Before You Apply

What is the purpose of this trial?

This trial focuses on understanding the rare genetic condition known as dentatorubral-pallidoluysian atrophy (DRPLA). Researchers observe how DRPLA progresses over time and seek biological markers that could help predict its course. The study includes both adults and children with a genetic diagnosis of DRPLA, as well as individuals without the condition for comparison. Those with a confirmed DRPLA diagnosis, or who know someone with the condition, may find that participating in this study contributes to the development of future treatments. As an unphased trial, this study offers a unique opportunity to contribute to foundational research that could lead to breakthroughs in understanding and treating DRPLA.

Do I have to stop taking my current medications for the trial?

The trial information does not specify whether you need to stop taking your current medications. It's best to discuss this with the study team or your doctor.

Why are researchers excited about this trial?

Researchers are excited about this trial because it aims to uncover key insights into dentatorubral-pallidoluysian atrophy (DRPLA) by studying its natural history and identifying important biomarkers. Unlike typical treatment-focused studies, this trial seeks to understand the progression and biological markers of DRPLA, which could lead to earlier diagnosis and more targeted therapies in the future. By comparing individuals with the genetic mutation to those without neurological conditions, researchers hope to discover new pathways for intervention and improve outcomes for those affected by this rare genetic disorder.

Who Is on the Research Team?

PG

Paola Giunti

Principal Investigator

University College, London

Are You a Good Fit for This Trial?

Inclusion Criteria

I have DRPLA with a CAG repeat expansion over 35.
I am 16 years old or older with DRPLA.
I can read, understand, and sign the consent form myself, or have someone who can do it for me.
See 2 more

Timeline for a Trial Participant

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Baseline Assessment

Participants undergo initial assessments to establish baseline measurements for biomarkers and clinical features

1 visit
1 visit (in-person or remote)

Annual Follow-up

Participants have annual visits for follow-up assessments to monitor disease progression and biomarker changes

3 years
3 visits (in-person or remote)

Final Assessment

Participants who complete the protocol are assessed on two consecutive days to reduce patient burden

2 days
2 visits (in-person)

What Are the Treatments Tested in This Trial?

Interventions

  • Positive genetic test for pathological expansion in ATN1

How Is the Trial Designed?

2

Treatment groups

Experimental Treatment

Group I: Volunteer controlExperimental Treatment1 Intervention
Group II: DRPLA-mutation carrierExperimental Treatment1 Intervention

Find a Clinic Near You

Who Is Running the Clinical Trial?

University College, London

Lead Sponsor

Trials
884
Recruited
38,770,000+

NYU Langone Health

Collaborator

Trials
1,431
Recruited
838,000+

NYU Grossman School of Medicine

Collaborator

Trials
5
Recruited
2,400+

University of North Carolina, Chapel Hill

Collaborator

Trials
1,588
Recruited
4,364,000+