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Clinical Studies

Clinical studies can include experimental treatments, such as drug trials, and observational studies. Studies are often conducted under the auspices of the Huntington Study Group or may be sponsored by pharmaceutical and biotechnology companies or the National Institute of Health. The Center also conducts a number of trials on its own.

Currently Enrolling Studies

  • Generation HD1: A Study to Evaluate the Efficacy and Safety of Intrathecally Administered RO7234292 (RG6042) in Patients With Manifest Huntington's Disease
  • HDClarity: A Multi-Site Cerebrospinal Fluid Collection Initiative to Facilitate Therapeutic Development for Huntington's Disease
  • Enroll-HD: A Prospective Registry Study in a Global Huntington Disease (HD) Cohort

Generation HD1: A Study to Evaluate the Efficacy and Safety of Intrathecally Administered RO7234292 (RG6042) in Patients With Manifest Huntington's Disease

The purpose of this study is to compare the effects, good and/or bad, of RO7234292 (also known as RG6042) in study participants with Huntington’s disease (HD). RO7234292 is an investigational drug from a group of drugs known as anti-sense oligonucleotides (ASO), which are man-made stretches of DNA which stop the “messenger” RNA from instructing cells to make proteins.

HD is caused by toxic mutant HTT (called “mHTT”) protein. RO7234292 has shown to lower levels of this toxic protein in the first clinical trial by interfering with its production. It is hoped that by reducing mHTT protein, progression of disease can be slowed or stopped. The current study aims to test this idea.

The use of RO7234292 in this research study is investigational. The word “investigational” means that RO7234292 is not approved by the U.S. Food and Drug Administration (FDA) for the treatment of HD or any other condition. The FDA is allowing the use of RO7234292 in this study.

In this study, participants will receive RO7234292 or placebo (contains no active ingredient) administered into the spinal fluid at each study visit. Some participants will receive alternating doses of RO7234292 and placebo at each study visit.

 Study Director: Jee Bang, MD, MPH
 Lead Coordinator: Kia Ultz
 Sponsor: Genentech / Roche
 Recruiting? Yes
 ClinicalTrials.gov Identifier: NCT03761849
 Conditions Studied: Early Manifest Huntington’s disease (HD)
 Intervention: RG6042 and/or placebo
 Duration of Participation: Approximately 26 months
 Frequency of Visits: Once every other month

 Study Details

Inclusion Criteria:

  • Manifest HD diagnosis, defined as a DCL score of 4
  • Independence Scale (IS) score >= 70
  • Genetically confirmed disease by direct DNA testing with a CAP score >400
  • Clinical assessment to ensure individual has intact functional independence at baseline to maintain self-care and core activities of daily living (ADLs).

Exclusion Criteria:

  • Any serious medical condition or clinically significant laboratory, or vital sign abnormality at screening that, in the investigator's judgment, precludes the patient's safe participation in and completion of the study
  • Pregnant or breastfeeding, or intending to become pregnant during the study or within 5 months after the final dose of study drug, severe chorea

Study Visits includes:

  • Lumbar puncture (also known as spinal tap)
  • Blood draws and urinalysis
  • Neuro, physical, and motor exams
  • MRIs
  • Cognitive assessments
  • Questionnaires
  • Medical and surgical history, and comorbid conditions
  • Vital signs, including EKGs

For information about this study, please contact: Kia Ultz, Research Program Coordinator (kcarte23@jhmi.edu)


HDClarity: A Multi-Site Cerebrospinal Fluid Collection Initiative to Facilitate Therapeutic Development for Huntington's Disease

The main purpose of this observational study is to collect cerebrospinal fluid (CSF), the fluid that surrounds the brain and spinal cord, which is needed to study biomarkers to see which biomarkers influence HD’s pathophysiology and progression, as well as how biomarkers differ between HD and non-HD participants. CSF can be used to provide information about the brain and the nervous system that is impossible to obtain in any other way. CSF is collected by a procedure called a lumbar puncture or spinal tap. This is a commonly performed procedure that takes around 30 minutes. Family members with a positive or negative HD status, or family not related through blood (i.e. spouses and partners) may participate. In addition, biomarkers may help design and guide future research studies and clinical trials as well as help us better understand who will most likely benefit from a particular treatment.

For information about this study, please contact: Kia Ultz, Research Program Coordinator (kcarte23@jhmi.edu)


Enroll-HD: A Prospective Registry Study in a Global Huntington Disease (HD) Cohort

Enroll-HD is a multi-site clinical observational study that assess its participants on an annual basis. There are over 13,000 active participants worldwide, at 148 sites in 15 countries. Types of assessments used includes cognitive, behavioral, motor, and physiological, as well as demographic information and HD family history. You will also have a blood draw. Both people with and without HD can participate – this includes pre-symptomatic and symptomatic patients, those with unknown HD status, and family members. Furthermore, this study leads as a platform for future HD clinical research. 

For information about this study, please contact: Jacqueline V. Bran, M.A., M.H.S., Research Program Coordinator (jbran1@jhmi.edu)

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