ONGOING OBSERVATIONAL TRIALS
Before participating in a study, talk to your health care provider and learn about the risks and potential benefits.
Evaluation of the Diagnostic Performance of Non-Invasive Prenatal Diagnosis for Single Gene Disorders
Enroll-HD is an international study looking at how the disease changes over time in different people. By tracking changes over the years it is hoping to better understand the course of HD. This can then lead to a quicker understanding if a new drug will be helpful leading to new therapies. The study is open to different stages of the disease, premanisfest, at risk or healthy controls. This will also depend on the study site.
The primary objective is to collect a high quality CSF (Cerebrospinal fluid) sample for evaluation of biomarkers and pathways that will enable the development of novel treatments for HD. The secondary objective is to generate a high quality plasma sample collection matching the CSF collections, which will also be used to evaluate biomarkers and pathways of relevance to HD research and development.
Using positron emission tomography (PET) and magnetic resonance imaging(MRI) this study will try to determine the abnormal molecular, functional, and structural changes in participants’ brains, ranging from several years before symptom onset to the advanced symptom stage. The study will be done over a three year period (Baseline, Year-1, and Year-2). This called a longitudinal study
JOIN-HD is a worldwide registry for families affected by Juvenile onset Huntington’s Disease (JoHD), which aims to shed light on this diagnosis, bring together those impacted by JoHD, increase awareness and knowledge about this condition, facilitate research and help advocate for better care.
This study wants to confirm if Brain Derived Neurotropic Factor (BDNF) is a good biomarker for HD. The BDNF will be collected and measured from cerebrospinal fluid (CSF).
Creation of an Italian Network of Biobanks of Rare Diseases
This study will look at the Frequency of Selected Single Nucleotide Polymorphisms in Huntington Disease Gene Expansion Carriers.