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Clinical Studies - Closed

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.

On-Going Studies (Enrollment is Closed)

Natural History Study: A Multi-Site, Prospective, Longitudinal, Cohort Study Measuring Cerebrospinal Fluid Mutant Huntingtin Protein in Patients With Huntington's Disease

This research is being done to explore and examine the relationship between the abnormal mutant huntingtin protein (thought to be the main cause of Huntington's disease) and the progression of your disease over time. This study is measuring a certain protein (called mutant huntingtin [mHTT]) together with other biological markers to better understand HD. This study in patients with early Huntington's disease (HD) will explore the ways in which the spinal fluid biological markers are related to the mHTT and the utility of recording clinical outcome measures via sensors contained in the Roche HD mobile app. This study is being conducted at approximately 17 sites worldwide, and seeks to enroll 100 individuals.  No drug is being tested.

Study Director: Jee Bang, MD, MPH
Lead Coordinator: Jacqueline V. Bran
Sponsor: Genentech / Roche
Recruiting? No Identifier: NCT03664804
Conditions Studied: Early Manifest Huntington’s disease (HD)
Intervention: No drug intervention. However, participants who complete this study may be eligible to join the Open Label study for RG6042.
Duration of Participation: Approximately 18 months
Frequency of Visits: Screening and baseline done within a month of each other; future “visits” (alternating in clinic and via phone) every three months

Study Details

Inclusion Criteria:

  • Age 25-65, Genetically diagnosed HD
  • Manifest HD clinical diagnosis, defined as a DCL score of 4
  • Genetically confirmed disease by direct DNA testing
  • Must meet age, gender, and CAG repeat critera of needed participants.  (All participants “match” a participant who completed the RG6042 Phase I/II study.)

Exclusion Critera:

  • 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 one EKG

Signal: A Phase 2, multi-center, randomized, double-blind, placebo controlled study in subjects with late prodromal and early manifest Huntington’s disease (HD) to assess the safety, tolerability, pharmacokinetics, and efficacy of VX15/2503

The primary objective of Phase 2 is to evaluate the safety, tolerability and efficacy of monthly IV administration of VX15/2503 over 18 months and up to 36 months (subset of subjects) in Cohort B in subjects with late prodromal or early manifest HD. Efficacy assessments for Cohort B will include neuropsychological, clinical, motor, global measurement of change and imaging endpoints in a population of late prodromal and early manifest HD patients over 18 months and up to 36 months.  This trial is being conducted at approximately 30 sites across the US and Canada, and seeks to enroll 240 individuals.

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