Frequency of Genetic Variations (Selected Single Nucleotide Polymorphisms) in Huntington Disease Gene Expansion Carriers

1. Why is this study needed?

Huntington’s disease (HD) is a genetic disease caused by a mutated version of the huntingtin gene. HD leads to progressive damage of nerve cells in the brain, which may affect a person’s ability to think, talk, and move. There is a high medical need to develop therapies that treat HD. Understanding more about genetic variations involved in HD may help drug developers direct research efforts.

This epidemiological study aims to find out what types of genetic differences, called single nucleotide polymorphisms (SNPs), are present in the abnormal huntingtin gene and if these genetic differences are more common in some parts of the world. It is common for people to have genetic differences such as SNPs. SNPs do not directly determine the severity or progression of HD. They can be used as a targeting mechanism to guide a selective investigational medicine. This study will help us to better understand HD and how common a certain SNP exists around the world, which will help determine if future clinical trials targeting the SNP may be possible.

2. Who can take part in the study?

People (males / females) of 25 to 60 years of age can take part in the study if they carry the HD gene expansion. Additionally, they have subtle or early symptoms of HD, or are experiencing mild functional impairment.

3. How does this study work?

People will be screened to check if they are able to participate in the study. If eligible, they will be asked to answer a few questions about themselves and their health and to provide a blood sample. The total time of participation in this study will be less than 1 day.

4. What are the main results measured in this study?

The main results obtained in the study are how common it is for people in different parts of the world to have a specific SNP linked to HD.

5. Are there any risks or benefits in taking part in this study?

There is no treatment in this study. Taking part in the study will not make participants feel better. But the information collected in the study can help other people with similar health conditions in the future. Participants in this study may be told of future HD clinical trials that may be of interest to them.

Risks associated with the study procedure

Participants will have their blood drawn one time in this study. They may have unwanted effects of the blood sample collection. Drawing blood may cause pain, bruising, or infection where the needle is inserted. Some people may experience dizziness, fainting, or upset stomach when their blood is drawn. These unwanted effects can vary from person to person.