Observational study on the natural history and biomarkers of Dentatorubral-Pallidoluysian Atrophy

Dentatorubral-pallidoluysian Atrophy Natural History and Biomarkers Study

This study looks at how Dentatorubral-Pallidoluysian Atrophy affects both kids and adults over time and checks for certain markers in the body that might help understand the disease better.

Quick facts

• Study type: Observational
• Enrollment: 225 (estimated)
• Sex: All
• Sponsor: University College, London (other)
• Locations: 3 sites (New York, New York and 2 other locations)
• Trial ID: NCT06273150 on ClinicalTrials.gov

What this trial studies

This observational study aims to characterize the natural history of Dentatorubral-Pallidoluysian Atrophy (DRPLA) in both juvenile and adult patients while exploring various biomarkers associated with the condition. It includes three participant arms: adults aged 16 and over, pediatric patients under 16, and remote participants who cannot travel. Participants will attend annual visits for three years to monitor disease progression and gather data that may support future clinical trials. The study also seeks to identify genetic factors that could predict disease outcomes.

Who should consider this trial

Good fit: Ideal candidates include individuals diagnosed with DRPLA who are either 16 years or older or under 16 years, as well as those who can participate remotely.

Not a fit: Patients without a genetic diagnosis of DRPLA or those with CAG repeat expansions of 35 or fewer will not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to improved understanding and management of DRPLA, potentially paving the way for targeted therapies.

How similar studies have performed: While this study is focused on DRPLA, similar observational studies have shown success in understanding other neurodegenerative conditions, suggesting potential for valuable insights.

Eligibility criteria

Inclusion criteria for the Adult Protocol:

1. DRPLA adult participants must be 16 years old or over at the time of enrollment, to participate.
2. DRPLA adult participants must have a genetic diagnosis of DRPLA and CAG repeat expansion \>35.
3. Patient is able to read, understand, and provide written informed consent (signed and dated). If the patient is under the age of 18 or is unable to provide consent, the patient must have a parent or caregiver capable of providing informed consent (signed and dated) and able to attend all scheduled study visits, and provide feedback regarding the participant's symptoms and performance as described in the protocol.
4. Adult pre-symptomatic subjects must have a positive genetic test for the DRPLA expansion without symptoms compatible with the disease, and be 16 years old or over at the time of enrollment.
5. Adult Family/Community control participants must be 16 years old or over at the time of enrollment to participate. Blood-relatives must not have a genetic diagnosis of DRPLA or their genetic status is unknown.

Exclusion criteria for the Adult Protocol:

1. Individuals with an ataxia condition other than DRPLA.
2. Failure to sign the consent form will result in study exclusion.
3. Has any condition or circumstance that, in the opinion of the Investigator, makes the participant unsuitable for enrolment. These may include medical conditions which might affect the measurement of biomarkers.
4. Participants will be excluded from the lumbar puncture, and skin biopsy procedures if they have a history of severe allergic or anaphylactic reactions or other adverse reactions to local anesthetics used in the study.
5. For family/community controls: those individuals with neurological conditions (other than primary headache disorders) will be excluded.

Inclusion Criteria for the Pediatric Protocol:

a. DRPLA pediatric participants must be under 16 years old at the time of enrollment, to participate.

f. DRPLA pediatric participants must have a genetic diagnosis of DRPLA and CAG repeat expansion \>35.

g. If the patient is under the age of 18 or is unable to provide consent, the patient must have a parent or caregiver capable of providing informed consent (signed and dated) and able to attend all scheduled study visits, and provide feedback regarding the participant's symptoms and performance as described in the protocol.

h. Pediatric Family/Community control participants must be under 16 years old at the time of enrollment to participate. Blood-relatives must not have a genetic diagnosis of DRPLA or their genetic status is unknown.

Exclusion Criteria for the Pediatric Protocol:

f. Individuals with an ataxia condition other than DRPLA. g. Failure to sign the consent form will result in study exclusion. h. Has any condition or circumstance that, in the opinion of the Investigator, makes the participant unsuitable for enrolment. These may include medical conditions which might affect the measurement of biomarkers.

i. Participants will be excluded from the lumbar puncture, and skin biopsy procedures if they have a history of severe allergic or anaphylactic reactions or other adverse reactions to local anesthetics used in the study.

j. For family/community controls: those individuals with neurological conditions (other than primary headache disorders) will be excluded.

Where this trial is running

New York, New York and 2 other locations

• NYU Grossman School of Medicine — New York, New York, United States (RECRUITING)
• University of North Carolina at Chapel Hill — Chapel Hill, North Carolina, United States (RECRUITING)
• University College London — London, United Kingdom (RECRUITING)

Study contacts

• Principal investigator: Paola Giunti — University College, London
• Study coordinator: Paola Giunti

Conditions: Dentatorubral-Pallidoluysian Atrophy, Ataxia, Epilepsy, Chorea