RecruitingOBSERVATIONAL

Frequency of Selected Single Nucleotide Polymorphisms in Huntington Disease Gene Expansion Carriers

This study is investigating small genetic changes in people who carry the Huntington’s disease gene expansion. Researchers are trying to understand if certain genetic variations are more common. If you take part, you'll have one clinic visit where you'll answer questions about your health, medical history, and personal details like your age and background. A blood sample will also be taken to look at your genetic information. This research doesn't involve new medicines or treatments; it's an 'observational' study. By gathering this information, scientists hope to learn more about Huntington’s disease, which could help in developing new ways to understand and support people with the condition in the future.

At a glance

Status

Recruiting

Sponsor

Hoffmann-La Roche

Enrolment target

600

Start

02 Sep 2024

Estimated completion

28 Feb 2027

Huntington Disease

What is this study about?

This study is all about understanding more about Huntington's disease at a very detailed level. Researchers are looking at tiny differences in people's genes, called 'single nucleotide polymorphisms' (SNPs), specifically in the genes linked to Huntington's. Think of these SNPs as very small variations in the genetic code, like a single letter change in a long sentence. Scientists want to see how often certain SNPs appear in people who carry the gene for Huntington's disease.

This kind of research is important because it helps us build a clearer picture of how Huntington's disease develops and progresses in different people. It’s an 'observational' study, meaning you won't be given any new treatments or medicines. Instead, the study is about collecting information to deepen our knowledge. By finding out more about these genetic variations, it could eventually help researchers understand why Huntington's disease affects people differently and potentially lead to new ways to support patients in the future.

The information gathered from studies like this contributes to the global effort to combat Huntington's disease. Every piece of genetic information helps scientists connect the dots, offering hope for better understanding and, ultimately, for developing new strategies to help those living with the condition.

Key takeaways

This study is about understanding genetic differences in Huntington's disease.
It requires only one visit to a clinic.
You'll answer questions about your health and give a blood sample.
No new medicines or treatments are involved.
Your participation helps advance knowledge about Huntington's disease.
You must be 25-60 years old and confirmed to carry the Huntington's gene.

Who may be eligible?

To join this study, you need to be between 25 and 60 years old and have been told by a doctor that you carry the gene for Huntington's disease. You'll also need to be able to give an informed consent, meaning you understand the study and agree to take part.

The research team will also check your medical records to make sure your Huntington's disease symptoms meet certain criteria. Specifically, they'll look for recent scores that show your ability to do daily activities (your 'Total Functional Capacity' must be 9 or higher) and your movement symptoms (your 'Total Motor Score' must be more than 6). These checks help ensure that the study includes people who are at a similar stage of the condition.

Finally, you must be comfortable with having blood samples taken, as this is a key part of the study. There are no other reasons why you couldn't join this particular study.

Quick self-check

I am aged between 25 and 60 years old.
I have been told by a doctor that I carry the gene for Huntington's disease.
I am comfortable with having blood samples taken.
My recent medical records show specific scores for my functional abilities and movement.
I am willing and able to sign an informed consent form.

This is a guide only — the research team will confirm whether you can take part.

What does participation involve?

If you decide to take part in this study, it involves just one visit to a research clinic. During this visit, you'll be asked some questions about yourself, including your age, sex, and ethnic background. The researchers will also ask about your overall health, any medical conditions you have, and the medications you are currently taking.

At the end of this single visit, a blood sample will be taken. This blood sample will be used to look at your genes in detail. The entire process, including answering questions and giving the blood sample, will happen during this one visit. There are no follow-up visits, additional medications, or treatments involved in this study.

Potential risks and benefits

Taking part in this study could help scientists learn more about Huntington's disease, which may benefit others in the future by improving our understanding of the condition. You will not receive personal medical recommendations or direct benefits from participating. The main risk involved is the minor discomfort and very small chance of bruising or infection from the blood draw, similar to any routine blood test. You have the right to withdraw from the study at any time, even once you've started, without giving a reason, and it won't affect your medical care.

Locations (45)

Uab Medicine
Birmingham, United States· Completed
Barrow Neurological Institute
Phoenix, United States· Completed
University of California San Diego
La Jolla, United States· Completed
University of California Davis Medical System
Sacramento, United States· Completed
CenExel Rocky Mountain Clinical Research, LLC
Englewood, United States· Completed
University of South Florida
Tampa, United States· Recruiting
Northwestern University
Chicago, United States· Completed
University of Iowa Hospitals and Clinics
Iowa City, United States· Completed
John Hopkins University School of Medicine
Baltimore, United States· Completed
Beth Israel Deaconess Medical Center
Boston, United States· Completed
University of Pittsburgh
Pittsburgh, United States· Recruiting
Vanderbilt University Medical Center
Nashville, United States· Recruiting

+33 more sites — see the official record for the full list.

Common questions

What is the study actually looking for?

It's looking at tiny genetic differences in people with the Huntington's gene to understand more about the disease.

Do I have to take new medicine?

No, this study doesn't involve any new medicines or treatments; it's about collecting information.

How long will I be involved in the study?

You'll only need to attend one visit to the clinic.

Will I get my test results back?

The study focuses on research, and individual genetic results will not be shared with participants.

What if I change my mind after joining?

You can withdraw from the study at any time without needing to give a reason.

How to find out more

Reference Study ID Number: WE45491 https://forpatients.roche.com/

global-roche-genentech-trials@gene.com 888-662-6728 (U.S. Only) Official trial record

Always speak to your GP or specialist before deciding to take part in a study.