Ongoing Clinical Trials for Huntington’s Disease
This article provides detailed information about 10 ongoing clinical trials investigating various treatments for Huntington’s disease. These studies are taking place across multiple European countries and are testing different approaches, including gene therapies, imaging agents, vitamins, and investigational medications aimed at reducing harmful proteins or improving symptoms in patients at different stages of the disease.
Clinical trial locations
- Austria
- Denmark
- France
- Study on [18F]MNI-659 to Track Huntington’s Disease Progression in Symptomatic and Pre-symptomatic Patients
- Study on the Safety of VO659 for Patients with Spinocerebellar Ataxia Types 1, 3, and Huntington’s Disease
- Safety and Tolerability Study of AB-1001 Brain Injection in Adults with Early Huntington’s Disease
- Study on Long-Term Safety and Effects of PTC518 for Patients with Huntington’s Disease
- Study on the Safety and Effects of PTC518 for Patients with Huntington’s Disease
- Study on the Safety and Efficacy of Tominersen for Patients with Prodromal and Early Manifest Huntington’s Disease
- Germany
- Study on the Safety of VO659 for Patients with Spinocerebellar Ataxia Types 1, 3, and Huntington’s Disease
- Study on Long-Term Safety and Effects of PTC518 for Patients with Huntington’s Disease
- Study on the Safety and Effects of PTC518 for Patients with Huntington’s Disease
- Study on the Safety and Efficacy of Tominersen for Patients with Prodromal and Early Manifest Huntington’s Disease
- Italy
- Netherlands
- Poland
- Portugal
- Spain
- Study on the Use of Thiamine and Biotin for Patients with Huntington’s Disease
- Study on Long-Term Safety and Effects of PTC518 for Patients with Huntington’s Disease
- Study on the Effects of Metformin on Cognitive Function in Patients with Huntington’s Disease
- Study on the Safety and Effects of MBF-015 for Patients with Huntington’s Disease
- Study on the Safety and Effects of PTC518 for Patients with Huntington’s Disease
- Study on the Safety and Efficacy of Tominersen for Patients with Prodromal and Early Manifest Huntington’s Disease
Study on [18F]MNI-659 to Track Huntington’s Disease Progression in Symptomatic and Pre-symptomatic Patients
This trial, conducted in France, aims to identify reliable biomarkers that can measure disease progression from early stages. The study involves both individuals who have symptoms and those who are in the pre-symptomatic stages, meaning they carry the genetic mutation but do not yet show symptoms.
Main inclusion criteria: Participants must be between 18 and 65 years old and provide written consent. For symptomatic patients, a genetic marker count of 40 or more CAG repeats is required, along with specific functional and motor scores on standardized scales. Pre-symptomatic patients also need 40 or more CAG repeats but must not yet display significant movement symptoms. Healthy volunteers serve as a control group.
Main exclusion criteria: Individuals who do not have the disease, those outside the specified age range, and vulnerable populations cannot participate.
Trial focus: The study uses an imaging agent called [18F]MNI-659, administered intravenously, to help visualize specific markers in the body. Participants undergo baseline assessments, imaging procedures, and follow-up visits at 1, 12, and 24 months to track changes over time.
Investigational drug: [18F]MNI-659 is a solution for injection being studied to identify biomarkers that can measure disease progression. While the exact mechanism is still under investigation, this imaging agent targets specific pathways involved in the disease.
Study on the Safety of VO659 for Patients with Spinocerebellar Ataxia Types 1, 3, and Huntington’s Disease
This study, taking place in France, the Netherlands, Germany, and Denmark, evaluates the safety and tolerability of VO659, an antisense oligonucleotide administered as an intrathecal injection into the space around the spinal cord.
Main inclusion criteria: Participants must be between 25 and 60 years old, provide written consent, and have confirmed genetic diagnoses. They must weigh at least 50 kg with a BMI between 18 and 32. For Huntington’s disease specifically, the condition should be in the early stage. Women and men must follow specific birth control guidelines during the study.
Main exclusion criteria: Those without a diagnosis of the targeted conditions, individuals outside the age range, and vulnerable populations are excluded.
Trial focus: The study administers multiple ascending doses of VO659 to observe how bodies respond. Regular monitoring includes physical examinations, neurological assessments, vital signs, laboratory tests, and imaging studies such as MRI scans.
Investigational drug: VO659 is an antisense oligonucleotide that targets specific genetic material to potentially reduce harmful protein production. It aims to address the underlying genetic causes of these neurological conditions.
Study on the Use of Thiamine and Biotin for Patients with Huntington’s Disease
This Spanish trial evaluates the safety and tolerability of combining two vitamins, Thiamine (Vitamin B1) and Biotin (Vitamin H), taken orally in tablet and capsule form.
Main inclusion criteria: Adult patients with confirmed genetic markers and specific functional and motor scores are eligible. Symptomatic patients must have movement or mental health symptoms, while pre-symptomatic patients carry the genetic mutation without yet showing significant symptoms. Women of childbearing potential must have negative pregnancy tests and use reliable contraception.
Main exclusion criteria: Those without the diagnosis, individuals outside the 18-65 age range, vulnerable populations, patients unable to take oral medications, pregnant or breastfeeding women, and those in other trials are excluded.
Trial focus: Participants take both vitamins orally and undergo regular check-ups with neurologists, including blood tests and brain assessments. The study measures thiamine levels in the body and tracks changes in brain structure and motor function until the end of 2025.
Investigational drugs: Thiamine helps convert food into energy and supports nerve function, while Biotin plays a key role in metabolism and cellular health. The trial examines whether this combination can improve symptoms or slow disease progression.
Safety and Tolerability Study of AB-1001 Brain Injection in Adults with Early Huntington’s Disease
This French study tests AB-1001, a gene therapy administered as a one-time injection directly into specific brain regions (the caudate nucleus and putamen).
Main inclusion criteria: Participants must be between 18 and 65 years old with confirmed CAG expansion of 40 or more in the huntingtin gene. They must be in early stages with specific functional capacity scores and have brain scans showing minimum required sizes of specific regions. Current medications must be stable for at least 30 days before screening.
Main exclusion criteria: History of brain surgery or gene therapy, active psychiatric conditions, pregnancy or breastfeeding, other neurological conditions, participation in other trials within 30 days, severe medical conditions, substance abuse, inability to undergo MRI, blood clotting disorders, known allergies to study components, and recent medication changes are all exclusionary.
Trial focus: The study monitors participants for 52 weeks after the one-time treatment. Assessments include various brain scans (MRI, PET), blood and spinal fluid tests, and evaluations of movement abilities and cognitive function.
Investigational drug: AB-1001 uses a modified virus to deliver a therapeutic gene directly into affected brain regions. Some participants may also receive methylprednisolone to manage potential inflammation.
Study on Long-Term Safety and Effects of PTC518 for Patients with Huntington’s Disease
This trial, conducted across the Netherlands, Germany, Spain, France, Austria, and Italy, evaluates the long-term safety and effectiveness of PTC518, an oral tablet, over a period of up to 24 months.
Main inclusion criteria: Participants must be ambulatory (able to walk), aged 25 or older, and have completed a previous treatment period in study PTC518-CNS-002-HD. They must provide informed consent and follow all study rules. Women of childbearing potential and sexually active men must use effective contraception during treatment and for 6 months afterward.
Main exclusion criteria: Those without confirmed diagnosis, individuals outside the age range, vulnerable populations, those with interfering health conditions or medications, recent participants in other trials, and those unable to comply with procedures are excluded.
Trial focus: The study measures the reduction in blood total huntingtin protein levels, changes in brain structure (caudate volume), and functional scores. Regular monitoring includes vital signs, laboratory tests, physical examinations, and assessments.
Investigational drug: PTC518 is a small molecule therapeutic agent designed to reduce levels of total huntingtin protein in the blood, which is believed to be involved in disease progression.
Study on the Effects of Metformin on Cognitive Function in Patients with Huntington’s Disease
This Spanish trial examines whether metformin, a medication commonly used for type 2 diabetes, can positively impact cognitive functions in patients. The study is double-blind, meaning neither participants nor researchers know who receives the actual medication or placebo.
Main inclusion criteria: Participants must have a positive symptomatic clinical diagnosis, be able to travel to the study site, and have a carer available to provide information during visits. They must be aged 21-65 with symptoms starting at age 18 or older and have 36 or more CAG repeats. Specific scores on movement and daily living scales are required. Women must use contraception for 30 days before and during the study.
Main exclusion criteria: Those without diagnosis, individuals outside the age range, and vulnerable populations cannot participate.
Trial focus: The study uses cognitive tests that are part of the Unified Huntington’s Disease Rating Scale to measure various aspects of brain function, such as information processing and verbal fluency. Regular follow-up visits track progress.
Investigational drug: Metformin works by activating an enzyme called AMPK, which helps regulate energy balance in cells. The trial investigates whether this mechanism can help improve or slow cognitive decline.
Study on the Safety and Effects of AMT-130 for Adults with Early Huntington’s Disease
This Polish study evaluates AMT-130 (ifezuntirgene inilparvovec), a gene therapy delivered directly into the brain through a surgical procedure targeting the striatum region.
Main inclusion criteria: Participants must be 25-65 years old with early-stage disease indicated by specific functional scores and 40 or more CAG repeats in the HTT gene. Brain scans must show minimum required sizes of the putamen and caudate. All medications must be stable for 3 months before starting. Both women and men must use highly effective contraception.
Main exclusion criteria: Those without diagnosis, individuals outside the age range, those not in early stages, and vulnerable populations are excluded.
Trial focus: The study uses RNA interference to target and reduce production of the harmful huntingtin protein in specific brain areas. Participants are monitored until the end of 2029 with regular health checks including ECG, physical and neurological examinations, blood and urine tests, and MRI scans.
Investigational drug: AMT-130 uses a viral vector to deliver microRNA that reduces huntingtin protein production. Some participants may receive a placebo for comparison.
Study on the Safety and Effects of MBF-015 for Patients with Huntington’s Disease
This Spanish trial evaluates MBF-015, taken orally in hard capsules, over a 28-day period with follow-up until day 43.
Main inclusion criteria: Participants must be 25-60 years old with 39 or more CAG repeats in the HTT gene and specific movement symptoms and scores. They must have mild to moderate thinking difficulties and be able to undergo MRI scans and blood tests. If taking medications for the disease, doses must be stable for at least 3 months. Both women and men must use proper birth control during the study.
Main exclusion criteria: Those without diagnosis, individuals outside the age range, and vulnerable populations cannot participate.
Trial focus: The study monitors how the body processes MBF-015 by checking levels in blood and cerebrospinal fluid. Assessments include changes in biological markers, ability to perform daily activities, and overall mental and physical health. Regular visits involve blood tests, physical examinations, and possibly MRI scans.
Investigational drug: MBF-015 is an experimental medication in the phase IIa stage, administered alongside standard care to evaluate its initial effectiveness and safety profile.
Study on the Safety and Effects of PTC518 for Patients with Huntington’s Disease
This trial, conducted in Germany, France, Spain, Italy, Austria, and the Netherlands, tests PTC518 as an oral tablet over a 12-month period.
Main inclusion criteria: Participants must be ambulatory, aged 25 or older, with confirmed CAG repeat length between 40 and 50. They must have specific scores on independence and daily living scales, and a score on a prognostic index that helps predict disease progression. Women must use very effective birth control during and for 6 months after treatment. Men must use condoms during treatment and for 6 months afterward.
Main exclusion criteria: Those without confirmed diagnosis, individuals outside the age range, vulnerable populations, those with interfering conditions or medications, pregnant or breastfeeding women, those with severe allergies, and recent participants in other trials are excluded.
Trial focus: The study evaluates the safety of PTC518 and its effects on reducing total huntingtin protein in the blood. Regular check-ups include blood tests and various health assessments to track changes in protein levels associated with the disease.
Investigational drug: PTC518 is a small molecule drug designed to reduce huntingtin protein levels in the blood. Participants receive either the active medication or a placebo in this double-blind study.
Study on the Safety and Efficacy of Tominersen for Patients with Prodromal and Early Manifest Huntington’s Disease
This study spans Germany, Poland, Portugal, France, Spain, Italy, Denmark, and Austria, testing tominersen, an antisense oligonucleotide administered as an intrathecal injection over a 16-month period.
Main inclusion criteria: Participants must have confirmed gene expansion with a CAP score between 400 and 500, be in early stages (prodromal or early manifest), have kidney function with glomerular filtration rate of at least 60 mL/min/1.73 m², weigh more than 40 kg with BMI between 18 and 32, and be between 25 and 50 years old. A study companion must be available to provide support.
Main exclusion criteria: Those with other serious medical conditions, recent or planned surgery, current participation in another trial, history of drug or alcohol abuse, pregnancy or breastfeeding, known allergies to the medication, significant mental health disorders, and inability to comply with procedures are excluded.
Trial focus: The study assesses safety by monitoring adverse events and changes in cerebrospinal fluid markers. It evaluates the medication’s effect on mutant huntingtin protein levels and its efficacy in improving symptoms and functional capacity. Throughout the trial, participants undergo clinical laboratory tests, MRI scans, CSF evaluations, and cognitive function tests.
Investigational drug: Tominersen is an antisense oligonucleotide designed to target and reduce mutant huntingtin protein. Regular injections are administered directly into the intrathecal space surrounding the spinal cord.
Summary
These 10 clinical trials represent diverse approaches to treating Huntington’s disease, ranging from gene therapies and antisense oligonucleotides to imaging agents and repurposed medications. Several studies focus on reducing levels of the huntingtin protein, which is believed to be central to disease progression. Notable is the geographic concentration of trials in France, Germany, and Spain, which appear in multiple studies, suggesting these countries have established research centers for this condition.
The trials target different stages of the disease, from pre-symptomatic individuals to those with early manifest symptoms, allowing researchers to understand interventions at various points in disease progression. Some studies, such as those testing PTC518 and tominersen, involve multiple European countries, facilitating larger participant pools and broader data collection.
The variety of administration methods is also noteworthy, including oral tablets, intrathecal injections, and direct brain injections, each with its own potential benefits and challenges. While these trials offer hope for improved treatments, it’s important to remember that all investigational drugs are still being evaluated for safety and effectiveness, and participation in clinical trials should be carefully considered with healthcare providers.
