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

October 17th, 2022

Amy-lee Bredlau presents updates on PTC518

September 16th, 2022

Ages Eligible
for Study:

25 Years and older

(Adult, Older Adult)

Sexes Eligible
for Study:


Accepts Healthy Volunteers:


There has been an amendment to the entry criteria:

  • Length of trial from 12 weeks to 12 months
  • CAG repeat length was previously 42-50 and is now 40-50
  • Number of subjects was previously 162 an is now up to 252
  • We are recruiting Stage II AND Stage 3 now (so TFC and/or Independence scale less than 13/100)
  • 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: Medizinische Universität Innsbruck
  • Address: Christoph-Probst-Platz 1, Innrain 52 A, Fritz-Pregl-Straße 3, 6020 Innsbruck, Austria
  • 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: IRCCS Istituto delle Scienze Neurologiche di Bologna
  • Address: Padiglione G, Via Altura, 3, 40139 Bologna BO, Italy
  • Facility: IRCCS Carlo Besta Neurological Institutte
  • Address: Via Giovanni Celoria, 11, 20133 Milano MI, Italy
  • Facility: IRCCS Casa Sollievo della Sofferenza Research Hospital
  • Address: Viale Cappuccini, sn, 71013 San Giovanni Rotondo FG, Italy
  • Facility: Leiden University Medical Center
  • Address: Leiden, Netherlands, 2333 ZA
  • Principal Investigator: Susanne de Bot
  • Facility: Hospital Universitario Cruces
  • Address: Cruces Plaza, s/n, 48903 Barakaldo, Bizkaia
  • Facility: Hospital de la Santa Creu i Sant Pau
  • Address: C/ de Sant Quintí, 89, Horta-Guinardó, 08025 Barcelona
  • Facility: Hospital Universitario de Burgos
  • Address: Av. Islas Baleares, 3, 09006 Burgos
  • Facility: Hospital Universitario Ramón y Cajal
  • Address: M-607, 9, 100, Fuencarral-El Pardo, 28034 Madrid
  • 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
  • Facility: The Barberry National Centre For Mental Health
  • Address: 6 Bullace Croft, Birmingham B15, United Kingdom
  • Facility: Chapel Allerton Hospital
  • Address: Chapel Allerton Hospital Chape, Chapeltown Rd, Leeds LS7 4SA, United Kingdom
  • Facility: Manchester University NHS FT
  • Address: Cobbett House Manchester Royal Infirmary, Oxford Rd, Manchester M13 9WL, United Kingdom
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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.

new FB feed (19)


Exclusion Criteria

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

new FB feed (19)



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.

new FB feed (19)


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)

new FB feed (19)



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.