PTC Therapeutics



The PIVOT-HD study is a Phase II trial looking at how safety is PTC518, a new Huntington-Lowering drug, in patients with HD. PTC518 is an oral tablet (taken by mouth every day) that not only tries to lower huntingtin (mHTT) in the brain but also treat HD everywhere in the body (brain, muscle, immune system…). 

This Phase 2 is hoping to enrol 162 participants. 2 doses will be given and also a placebo group over 12 weeks and a follow-up of 12 months.

EHA Webinar on the PTC518 clinical trial updates

Amy-lee Bredlau presents updates on PTC518

Ages Eligible
for Study:

25 Years and older

(Adult, Older Adult)

Sexes Eligible
for Study:


Accepts Healthy Volunteers:


  • Genetically confirmed HD diagnosis with a cytosine-adenine-guanine (CAG) repeat length from 42 to 50, inclusive
  • A Unified Huntington’s Disease Rating Scale (UHDRS)-Independence Scale (IS) score of 100
  • A Total Functional Capacity (TFC) score of 13
  • A score between 0.18 and 4.93 inclusive on the normed version of the HD prognostic index (PINHD)
  • Receipt of an experimental agent within 90 days or 5 half-lives prior to Screening or anytime over the duration of this study, ribonucleic acid (RNA)- or deoxyribonucleic acid (DNA)-targeted HD-specific investigational agents such as antisense oligonucleotides, cell transplantation, or any other experimental brain surgery
  • Any history of gene therapy exposure for the treatment of HD
  • Participation in an investigational study or investigational paradigm (such as exercise/physical activity, cognitive therapy, brain stimulation, etc) within 90 days prior to Screening or anytime over the duration of this study
  • Any medical history of brain or spinal disease that would interfere with the lumbar puncture process safety assessments
  • Any medical history or condition that would interfere with the ability to complete the protocol-specified assessments (for example, implanted shunt, conditions precluding magnetic resonance imaging [MRI] scans)
  • Pregnancy, planning on becoming pregnant during the course of the study or within 6 months of end of treatment, or currently breastfeeding




  • Facility: Centre Hospitalier Universitaire d’Angers
  • Address: Angers, France, 49100
  • Principal Investigator: Christophe Verny   
  • Facility: Hôpital Universitaire de Marseille Hôpital de la Timone
  • Address: Marseille, France, 13385
  • Principal Investigator: Jean-Philippe Azulay
  • Facility: Brain and Spine Institute Paris
  • Address: Paris, France, 75013
  • Principal Investigator: Alexandra Durr 


  • Facility: Ruhr-Univ. Bochum St. Joseph-Hospital
  • Address: Bochum, Germany, 44791
  • Principal Investigator: Carsten Saft    
  • Facility: George-Huntington-Institut
  • Address: Münster, Germany, 48149
  • Principal Investigator: Ralf Reilmann  
  • Facility: Ulm University, UKU, Dep. of Neurology
  • Address: Ulm, Germany, 89081
  • Principal Investigator: Bernhard Landwehrmeyer 


  • Facility: Leiden University Medical Center
  • Address: Leiden, Netherlands, 2333 ZA
  • Principal Investigator: Susanne de Bot


  • Facility: Cardiff University Schools of Medicine and Biosciences
  • Address: Cardiff, United Kingdom, CF10 3AX
  • Principal Investigator: Anne Rosser
  • Facility: UCL Queen Square Institute of Neurology National Hospital for Neurology and Neurosurgery
  • Address: London, United Kingdom, WC1N 3BG
  • Principal Investigator: Sarah Tabrizi
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The chemical, similar to DNA, that makes up the ‘message’ molecules that cells use as working copies of genes, when manufacturing proteins.

(from HDbuzz.org)

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Inclusion Criteria

A type of eligibility criteria. These are the reasons that a person is allowed to participate in a clinical study.

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Exclusion Criteria

A type of eligibility criteria. These are reasons that a person is not allowed to participate in a clinical study.

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An inactive substance or treatment that looks the same as, and is given in the same way as, an active drug or intervention/treatment being studied.

The placebo effect is a psychological effect that causes people to feel better even if they’re taking a pill that doesn’t work. (from HDbuzz.org)

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Mutant huntingtin protein. The protein produced by the faulty HD gene.

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CAG repeat

The stretch of DNA at the beginning of the HD gene, which contains the sequence CAG repeated many times, and is abnormally long in people who will develop HD. (from HDbuzz.org)

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The stage of a clinical trial studying a drug or biological product, based on definitions developed by the U.S. Food and Drug Administration (FDA). The phase is based on the study’s objective, the number of participants, and other characteristics. There are five phases: Early Phase 1 (formerly listed as Phase 0), Phase 1, Phase 2, Phase 3, and Phase 4. Not Applicable is used to describe trials without FDA-defined phases, including trials of devices or behavioral interventions.