INTERVENTIESTUDIES
The main objective of DIACCIMEX was to develop and validate an analytical and clinical Non-Invasive Prenatal Diagnosis (NIPD) test for triplet repeat diseases by isolated circulating fetal trophoblastic cells (CFTC) analysis from maternal blood, searching for the familial mutation in families at risk of having one of the following triplet repeat diseases: Huntington’s disease, Steinert Myotonic dystrophy, Fragile X syndrome, spinocerebellar ataxia (SCA) 1, 2 and 3.
The main purpose of this study is to investigate whether Deep Brain stimulation has a positive effect on the motor and cognitive symptoms in Huntingtons patients. Deep brain stimulation (DBS) is a surgery to implant a device that sends electrical signals to brain areas responsible for body movement. Electrodes are placed deep in the brain and are connected to a stimulator device. Similar to a heart pacemaker, a neurostimulator uses electric pulses to regulate brain activity. DBS treatment has been used for some people with Parkinsons disease.
Both safety and efficacy will be investigated in this study with 50 participants. 25 participants will be stimulated with the DBS for the first period of 3 months and their performance on a variety of tests, will be compared with the 25 participants who don’t get any stimulation. After the first 3 months, all participants will be treated with DBS for another 3 months.
The main purpose of REVHD was to evaluate the therapeutic potential of Resveratrol on the caudate volume in Huntington’s disease patients, using volumetric MRI.
The purpose of this trial is to evaluate whether the around 60 participants (with early manifest Huntington’s disease) who commit to the physical activity program, manage to follow up and complete the 12 month intervention. The active intervention group will be supervised and encouraged by a trainer/physiotherapist on a regular basis. The results on both motor and cognitive tests, will be compared with a group of around 60 participants who are only monitored doing their physical activities as usual.
The aim of the study is to see if Huntington’s disease (HD) patients, when being followed up and encouraged in a specialized program for physical activity, follow the program and benefit from the training.
This clinical trial is testing a new drug that selectively lowers the mutant Huntington’s disease (HD) protein, whilst leaving the normal huntingtin protein relatively untouched. In order to be able to identify the gene with the mutant Huntingtin, they use a unique method and identify a so-called snip. Wave has identified two different snips that helps locate the mutant Huntingtin and therefore there are two studies (Presicion HD 1 and Presicion HD 2) with the same treatment, where the only difference is the targeted snip.
The primary objective is to understand whether the drug is safe in a small number of volunteers, before testing in a larger population and collecting evidence that the drug may work. The total of 60 participants receive either placebo or different dosages of the active drug every 4 weeks. Both the active drug and the placebo is delivered through a spinal injections.
This clinical trial is testing a new drug that selectively lowers the mutant Huntington’s disease (HD) protein, whilst leaving the normal huntingtin protein relatively untouched. In order to be able to identify the gene with the mutant Huntingtin, they use a unique method and identify a so-called snip. Wave has identified two different snips that helps locate the mutant Huntingtin and therefore there are two studies (Presicion HD 1 and Presicion HD 2) with the same treatment, where the only difference is the targeted snip.
The primary objective is to understand whether the drug is safe in a small number of volunteers, before testing in a larger population and collecting evidence that the drug may work. The total of 60 participants receive either placebo or different dosages of the active drug every 4 weeks. Both the active drug and the placebo is delivered through a spinal injections.
The main purpose of this study is to determine whether a drug called Neflamapimod can improve cognitive functions (planning, memory etc) in patients with early-stage Huntington’s disease (HD). The drug is taken orally. In the study 16 patients will receive the drug for 10 weeks and then be given placebo for 10 weeks or vice versa. Neither the doctor nor the patient knows in which period they get the active drug or the placebo. The effect will be tested with different cognitive tests.
Neflamapimod target an enzyme in the brain called p38 alpha. The aim is to reduce expression of the enzyme in neurons and enable the cells to function better. The drug has proven promising effect in animal tests and it is also currently being tested on patients with Alzheimers Disease.
In dit onderzoek wordt een middel, Triheptanoin genaamd, getest om te zien of er een positieve invloed is op de diverse ziektesymptomen van de huntingtonpatiënten, maar met een speciale nadruk op cognitieve functies. Triheptanoin is een vet maar het is geen natuurlijk producten en wordt kunstmatig geproduceerd. Het is bijna smaakloos en kleurloos en wordt al aangewend als voedingsmiddel voor medisch gebruik bij de behandeling van bepaalde ziekten die verband houden met de energieproductie van het lichaam, de zogenaamde stofwisselingsstoornissen. We weten dat de energieproductie van hersencellen negatief wordt beïnvloed bij de ZvH.
100 deelnemers doen mee aan de proef. 50 krijgen Triheptanoin elke dag gedurende 12 maanden. De overige 50 deelnemers krijgen de eerste 6 maanden een placebo. Maar gedurende de volgende 6 maanden krijgen ze wel het middel.
Het potentieel effect zal met Magnetic Resonance Spectroscopie (MRS) worden getest om een beeld te krijgen of de energieproductie is verbeterd of tenminste niet is afgenomen. Er worden ook MRI-scans gemaakt om een eventueel effect op het hersenvolume te zien. Daarnaast worden de deelnemers getest met een reeks motorische en cognitieve testen en vragenlijsten met betrekking tot het algemeen functioneren en de psychiatrische status.
OBSERVATIONELE STUDIES
The study is designed as a multi-site, prospective, 15-month longitudinal, cohort study measuring mutant huntingtin protein (mHTT) in the cerebrospinal fluid (CSF) in participants at the early stages of Huntington’s disease (HD).
BIOHD is studying ‘biomarkers’ that predicts the progression of Huntington’s disease. The study is therefore trying to find markers in the blood, through imaging, and psychological tests. In doing so, clinicians might be better at predicting how Huntington’s disease will progress in people who carry the mutated gene.