BELANGRIJK

Voordat u aan een onderzoek deelneemt, moet u met uw zorgverlener over de risico's en mogelijke voordelen praten.

Het belangrijkste doel van de studie is om de beweging van het medicijn RO7234292 (RG6042) doorheen de cerebrospinale vloeistof (CSF) en het plasma te karakteriseren en hoe ze op het medicijn reageren. De studie zal ook kijken naar het acute tijdsverloop en het herstelprofiel van de cerebrospinale vloeistof en de verlaging van het mutante huntingtine als reactie op de behandeling met  RO7234292 (RG6042) na epidurale  toediening aan patiënten met duidelijke huntingtonsymptomen.

Learn more

Dit is een fase III-studie waarbij huntingtonpatiënten injecties in het ruggenmerg krijgen met het medicijn Tominersen (voorheen RG6042). Het medicijn zou de hoeveelheid huntingtine in hersencellen verminderen. Sommige deelnemers krijgen het actieve medicijn elke 2 maanden geïnjecteerd, een andere groep krijgt het actieve medicijn elke 4 maanden en een derde groep krijgt het placebo geïnjecteerd. Het potentiële effect van het onderzoek zal worden gemeten door het cognitief, motorisch en sociaal functioneren te testen.

Learn more

Het belangrijkste doel van deze studie is om te identificeren of zogenaamde radioliganden (kleine radioactieve deeltjes) mutant huntingtine (mHTT) in de hersenen kunnen detecteren. Deze studie wordt gedaan bij mensen en maakt gebruik van PET-scans (beelden) van de hersenen om te zien of de aanwezigheid van de radioliganden overeenkomt met de expressie van mutant huntingtine in de hersencellen. Het doel van de studie is om PET-scans van radioliganden te gebruiken om de aanwezigheid van mHTT in hersencellen te meten. Als dit een valabele en effectieve manier zou zijn om mHTT te meten, kan deze methode gebruikt worden om na te gaan  of huntingtineverlagende therapieën daadwerkelijk het mHTT-niveau in de hersenen verminderen. Deze studie is belangrijk en heeft vrijwilligers nodig, omdat we nog steeds geen methoden hebben om te meten of de huntingtineverlagende therapieën in het hersenweefsel terechtkomen en daar daadwerkelijk het huntingtineniveau verminderen.

Learn more

PRidopidine Outcome On Function in Huntington Disease (PROOF-HD)

PROOF-HD is a Phase 3 clinical study that evaluates the efficacy and safety of pridopidine in patients with early stage of Huntington Disease. Pridopidine is a small molecule developed by Prilenia for the treatment of neurodegenerative disorders such as HD

Learn more

This interventional study is currently in phase 1b/2a and evaluates the safety and tolerability in adult patients with early-manifest HD patients.

Learn more

new FB feed (19)

dictionary:

oxidative seres

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

new FB feed (19)

dictionary:

Metabolism & bioenergetics

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

new FB feed (19)

dictionary:

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

 

new FB feed (19)

dictionary:

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.

new FB feed (19)

dictionary:

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.

 
new FB feed (19)

dictionary:

at risk

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

 
new FB feed (19)

dictionary:

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. 

 
new FB feed (19)

dictionary:

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.

new FB feed (19)

dictionary:

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.

new FB feed (19)

dictionary:

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.

new FB feed (19)

dictionary:

UHDRS- Unified Huntington Disease Rating Scale

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

new FB feed (19)

dictionary:

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

new FB feed (19)

dictionary:

Wild-type

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

new FB feed (19)

dictionary:

Tolerabilty

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

new FB feed (19)

dictionary:

Striatum

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

new FB feed (19)

dictionary:

Randomized allocation

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

new FB feed (19)

dictionary:

Radioligand

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

new FB feed (19)

dictionary:

Protein

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

new FB feed (19)

dictionary:

Premanifest / Prodromal

Prior to onset or diagnosis of movement symptoms.

new FB feed (19)

dictionary:

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.

new FB feed (19)

dictionary:

PK - Pharmacokinetics

The movement of drugs through the body

new FB feed (19)

dictionary:

PD - Pharmacodynamics

The body’s biological response to drugs

new FB feed (19)

dictionary:

PET scan

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

new FB feed (19)

dictionary:

Neuron

Brain cells that store and transmit information

new FB feed (19)

dictionary:

MRI

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

new FB feed (19)

dictionary:

mHTT

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

new FB feed (19)

dictionary:

Manifest

after HD diagnosis, or when symptoms are already showing

new FB feed (19)

dictionary:

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

new FB feed (19)

dictionary:

HTT

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

new FB feed (19)

dictionary:

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

new FB feed (19)

dictionary:

CSF - cerebrospinal fluid

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

new FB feed (19)

dictionary:

Efficacy

A measure of whether a treatment works or not

new FB feed (19)

dictionary:

ASO(Antisense oligonucleotides)

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

new FB feed (19)

dictionary:

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

new FB feed (19)

dictionary:

BDNF

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

new FB feed (19)

dictionary:

Allele

one of the two copies of a gene

new FB feed (19)

dictionary:

Plasma

Liquid component of the blood.

new FB feed (19)

dictionary:

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.

new FB feed (19)

dictionary:

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.