PIVOT-HD

Rekrutierung

INFORMATIONEN

FÖRDERER

PTC Therapeutics

TEILNEHMER

162

Die PIVOT-HD-Studie ist eine Phase-II-Studie, in der die Sicherheit von PTC518, einem neuen Medikament zur Senkung der Huntington-Krankheit, bei Patienten mit Huntington untersucht wird. PTC518 ist eine Tablette, die täglich eingenommen wird und nicht nur das Huntingtin (mHTT) im Gehirn senkt, sondern auch die Huntington-Krankheit überall im Körper (Gehirn, Muskeln, Immunsystem usw.) behandelt. 

In diese Phase 2 sollen 162 Teilnehmer aufgenommen werden. Es werden zwei Dosen verabreicht, außerdem eine Placebogruppe über 12 Wochen und eine Nachbeobachtungszeit von 12 Monaten.

EHA-Webinar über den aktuellen Stand
der klinischen Studie PTC518

Amy-lee Bredlau präsentiert
Neuigkeiten zum PTC518

Alter für die Studie geeignet

25 Jahre und älter (Erwachsene, Ältere Erwachsene)

Geschlecht für die Studie geeignet

Alle

Nimmt gesunde Freiwillige auf

Nein

  • Genetisch bestätigte HD-Diagnose mit einer Cytosin-Adenin-Guanin (CAG)
  • Wiederholungslänge von 42 bis einschließlich 50
  • Eine Unified Huntington’s Disease Rating Scale (UHDRS)-Independence Scale (IS) mit einem Wert von 100
  • Eine Gesamtfunktionsfähigkeit (TFC) von 13
    eine Punktzahl zwischen 0,18 und 4,93 auf der normierten Version des HD-Prognoseindex (PINHD)
  • Erhalt eines experimentellen Wirkstoffs innerhalb von 90 Tagen oder 5 Halbwertszeiten vor dem Screening oder zu einem beliebigen Zeitpunkt während der Dauer dieser Studie, Ribonukleinsäure (RNA)- oder Desoxyribonukleinsäure (DNA)-gerichtete HD-spezifische Prüfpräparate wie Antisense-Oligonukleotide, Zelltransplantation oder andere experimentelle Gehirnoperationen.
  • Gentherapie zur Behandlung von HD in der Vergangenheit
  • Teilnahme an einer Prüfstudie oder einem Prüfparadigma (wie z. B. Bewegung/physische Aktivität, kognitive Therapie, Hirnstimulation usw.) innerhalb von 90 Tagen vor dem Screening oder zu einem beliebigen Zeitpunkt während der Dauer der Studie
  • Anamnestisch bekannte Erkrankungen des Gehirns oder der Wirbelsäule, die die Sicherheitsbewertung der Lumbalpunktion beeinträchtigen könnten
  • Jegliche medizinische Vorgeschichte oder Erkrankung, die die Durchführung der im Protokoll vorgesehenen Untersuchungen beeinträchtigen würde (z. B. implantierter Shunt, Bedingungen, die Magnetresonanztomographien [MRT] ausschließen)
  • Schwangerschaft, Planung einer Schwangerschaft während der Studie oder innerhalb von 6 Monaten nach Ende der Behandlung, oder Stillen

LÄNDER

Österreich

  • Facility: Medizinische Universität Innsbruck
  • Address: Christoph-Probst-Platz 1, Innrain 52 A, Fritz-Pregl-Straße 3, 6020 Innsbruck, Austria

frankreich

  • 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 

Spanien

  • 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

Deutschland

  • 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 

Italien

  • 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

Niederlande

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

UK

  • 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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Phase

Clinical trial phases are different stages of research that assess the safety and effectiveness of a new medical treatment or intervention in humans.

Each phase has a specific goal and involves a different number of participants. Generally, there are 4 phases (I-IV), with Phase I focusing on safety and dosage, Phase II on efficacy and side effects, Phase III on comparing the new treatment with standard treatments, and Phase IV on long-term safety monitoring. 

 
 
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oxidative seres

an imbalance between unstable molecules called „free radicals“ and protective „antioxidants“ in your body

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Metabolism & bioenergetics

describe how your body turns food into fuel and uses that energy to live. 

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Small Molecule

a tiny chemical compound, much smaller than big biological structures like proteins, that can easily travel inside our cells to act as medicine (like aspirin or ibuprofen), a building block (like glucose), or a signaling tool in the body, often taken as pills because they’re easy to absorb and distribute

 

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Nucleic acid

(DNA and RNA) are the essential information-carrying molecules in all life, acting like blueprints that store and transmit genetic instructions for building and operating cells, directing everything from growth to protein production, and passing traits from parents to offspring.

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SNP-single nucleotide polymorphisms

a single-letter spelling difference in a gene. SNPs, pronounced ‘snips’, are common and most don’t change the function of the gene.

 
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at risk

You do not know if you carry the genetic mutation for HD gene 

 
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TFC-total functional capacity

A standardized rating scale for function in HD, used to assess capacity to work, handle finances, perform domestic chores and self-care tasks.
Scores range from 0 to 13, with higher scores indicating better functional capacity. 

 
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Double-blinded

 means that neither the participant nor the clinical trial doctor can choose or know the group the participant is in until the trial is over. This approach helps to prevent bias.

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Open label

A trial in which the patient and doctor know what drug is being used. Open label trials are susceptible to bias through placebo effects.

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Gene therapy

a technique that aims to treat or prevent diseases by modifying a person’s genes. It involves introducing, removing, or changing genetic material (DNA or RNA) within a patient’s cells.

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UHDRS- Unified Huntington Disease Rating Scale

A standardized neurological examination that aims to provide a uniform assessment of the clinical features of HD

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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

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Wild-type

the opposite of ‘mutant’. Wild-type huntingtin, for example, is the ‘normal’, ‘healthy’ protein

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Tolerabilty

How well a person can handle a treatment without having serious or uncomfortable side effects.

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Striatum

Part of the brain that  coordinates multiple aspects of cognition, including both motor and action planning, decision-making, motivation, reinforcement, and reward system.

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Randomized allocation

A type of allocation strategy in which participants are assigned to the arms of a clinical trial by chance.

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Radioligand

a radioactive substance that binds to a specific target in the body, allowing visualization of that target’s distribution and activity

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Protein

Protein builds, maintains, and replaces the tissues in your body. The building blocks of life.

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Premanifest / Prodromal

Prior to onset or diagnosis of movement symptoms.

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Placebo

A placebo is a dummy medicine containing no active ingredients. The placebo effect is a psychological effect that causes people to feel better even if they’re taking a pill that doesn’t work.

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PK - Pharmacokinetics

The movement of drugs through the body

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PD - Pharmacodynamics

The body’s biological response to drugs

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PET scan

Positron emission tomography which produces detailed 3-dimensional images of the inside of the body.

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Neuron

Brain cells that store and transmit information

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MRI

Magentic resonance imaging: A technique using powerful magnetic fields to produce detailed images and visualizes the structure of organs, tissues, and bones 

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mHTT

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

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Manifest

after HD diagnosis, or when symptoms are already showing

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Longitudinal study

A study where each participant is looked at several times over a time period – unlike a cross-sectional study, where each participant is looked at only once

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HTT

one abbreviation for the gene that causes Huntington’s disease. The same gene is also called HD and IT-15

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fMRI

functional MRI:As with MRI, a technique using powerful magnetic fields  but focusing on brain function by measuring and mapping changes in blood flow, revealing which areas of the brain are active during specific tasks or cognitive processes

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CSF - cerebrospinal fluid

A clear fluid produced by the brain, which surrounds and supports the brain and spinal cord.

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Efficacy

A measure of whether a treatment works or not

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ASO(Antisense oligonucleotides)

A type of gene silencing treatment in which specially designed DNA molecules are used to switch off a gene

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Biomarker

a test of any kind – including blood tests, thinking tests and brain scans – that can measure or predict the progression of a disease like HD. Biomarkers may make clinical trials of new drugs quicker and more reliable

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BDNF

Brain-derived neurotrophic factor: a growth factor that may be able to protect neurons in HD.

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Allele

one of the two copies of a gene

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Plasma

Liquid component of the blood.

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Gene

The basic unit of heredity passed from parent to child. Genes are made up of sequences of DNA and are arranged, one after another, at specific locations on chromosomes in the nucleus of cells.