GENERATION HD1

Completado

ACERCA DE

PATROCINADOR

Hoffmann-La Roche

PARTICIPANTES

909

Se trataba de un ensayo de fase 3 en el que se inyectaba a los participantes en la EH en la columna vertebral un fármaco llamado Tominersen, un ASO. Se creía que el fármaco disminuía la cantidad de mHHT en las células del cerebro. La administración del fármaco se detuvo después de que lo aconsejara un comité independiente. Se pidió a los participantes que permanecieran y continuaran con la recogida de datos durante el periodo restante del ensayo. El 85% eligió continuar.

Fecha estimada de finalización del estudio: 17 de marzo de 2022

Edades elegibles para el estudio:

De 25 años a 65 años (adulto, adulto mayor)

Sexos elegibles para el estudio:

Todos

Acepta voluntarios sanos:

No

Criterios de inclusión:

  • Diagnóstico manifiesto de EH, definido como una puntuación DCL de 4
  • Puntuación de la Escala de Independencia (IS) >= 70
  • Enfermedad confirmada genéticamente mediante pruebas directas de ADN con una puntuación CAP >400
  • Evaluación clínica para asegurar que el individuo tiene una independencia funcional intacta en la línea de base para mantener el autocuidado y las actividades básicas de la vida diaria (AVD).

Criterios de exclusión:

  • Cualquier condición médica grave o anormalidad de laboratorio o de signos vitales clínicamente significativa o claustrofobia en el momento de la selección que, a juicio del investigador, impida la participación segura del paciente en el estudio y su finalización
  • Estar embarazada o en periodo de lactancia, o tener la intención de quedarse embarazada durante el estudio o en los 5 meses siguientes a la última dosis del fármaco del estudio

PAÍSES

ACTUALIZACIONES

Roche ofrece información actualizada sobre el programa de tominersén en la enfermedad de Huntington manifiesta

Se detendrá la dosificación en el estudio clínico de fase III de tominersén tras la recomendación de un Comité Independiente de Supervisión de Datos (iDMC)

Más información aquí

AUSTRIA

DINAMARCA

FRANCIA

ALEMANIA

ITALIA

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ESPAÑA

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PAÍSES BAJOS

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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.

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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.