Update on Research & Clinical Trials

LEXINGTON, Mass. and AMSTERDAM, Feb. 07, 2022 (GLOBE NEWSWIRE) — uniQure N.V. (NASDAQ: QURE), a leading gene therapy company advancing transformative therapies for patients with severe medical needs, today announced the dosing of the first two patients in its European open-label Phase Ib/II clinical trial of AMT-130, a potential one-time gene-therapy approach for the treatment of Huntington’s disease. The clinical trial is taking place at several sites in Poland, the United Kingdom and Germany.   Go here to read the full story  ____________________________________________


January 27, 2022

Community update: Status VIBRANT-HD, the study of branaplam/LMI070 in Huntington’s Disease

Dear Huntington’s Disease Community:

We are sharing this update to make sure you have the latest information about Novartis’ branaplam development program in Huntington’s Disease (HD). Branaplam is being developed as a potential first in class orally administered disease modifying therapy for HD. Novartis is pleased to announce a Phase IIb study (VIBRANT-HD) in adults with early-stage manifest HD is underway and currently enrolling. You will find the latest information regarding trial sites by visiting ClinicalTrials.gov. More sites will be listed as they become active. Novartis has also received notice that the US Food and Drug Administration (FDA) has granted Fast Track designation for branaplam for the treatment of HD.

_To read the full press release click here:   ___________________________________________________________________________________________

SAN DIEGO, Dec. 7, 2021 /PRNewswire

Neurocrine Biosciences Announces Positive Phase 3 Data for KINECT-HD Study Evaluating Valbenazine for Chorea Associated with Huntington’s Disease

Neurocrine Biosciences (Nasdaq: NBIX) today announced positive top-line data from its Phase 3 KINECT-HD study evaluating the efficacy, safety and tolerability of valbenazine, a selective vesicular monoamine transporter 2 (VMAT2) inhibitor being investigated as a once-daily treatment in adults with chorea associated with Huntington disease (HD). The study met the primary endpoint of reduction in severity of chorea, the cardinal motor feature in Huntington disease, as measured by change in the Unified Huntington’s Disease Rating Scale (UHDRS®) Total Maximal Chorea (TMC) score from baseline to the average score at weeks 10 and 12.
Dec 16, 2021

Novartis today announced that the US Food and Drug Administration (FDA) has granted Fast Track designation for branaplam (LMI070) for the treatment of Huntington’s disease (HD). Fast Track designation facilitates the development and expedites the review of drugs to treat serious conditions and fill unmet medical needs. Branaplam is being developed as a potential first in class orally administered disease modifying therapy for HD.

Read the full article here:


17 November |  2021

Prilenia Receives Fast Track Designation for Pridopidine for the Treatment of Huntington’s Disease

Fast Track designation may accelerate the registration process for pridopidine by providing the ability to file a rolling NDA and qualify for priority review

Naarden, NL, 17 November 2021 – Prilenia Therapeutics B.V., a clinical stage biotech company focused on developing novel treatments for neurodegenerative and neurodevelopmental disorders, today announced that the U.S. Food and Drug Administration (FDA) has granted Fast Track designation to pridopidine for development as a potential treatment for Huntington’s Disease (HD).

Read the full press release here


By Dr Rachel Harding December 8 Edited by Dr Jeff Carroll 

“Seeing” the toxic huntingtin protein in people with HD

Scientists have developed a tool which allows us to “see” the toxic clumps of the huntingtin protein using special scanners. People with Huntington’s disease (HD) make a toxic form of the huntingtin protein which forms clumps in cells of their bodies, which accumulate during HD progression. Tracking how these clumps form over time in people with HD, or how they change when people with HD take different treatments, could help us better understand the progression of HD and which medicines help patients most.

To read more about the toxic clumps click here


Prilenia andHuntington Study Group Announce Completion of Patient Enrollment Ahead of Schedule in Global Phase 3 PROOF-HD Huntington’s Disease Clinical Trial

— Pridopidine is the most advanced drug candidate in clinical development for maintenance of functional capacity in Huntington’s Disease —

NAARDEN, Netherlands–(BUSINESS WIRE)–Prilenia Therapeutics B.V., a clinical stage biotech company focused on developing novel treatments for neurodegenerative and neurodevelopmental disorders, today announced the completion of patient enrollment in the Pridopidine Outcome On Function in Huntington’s Disease (PROOF-HD) global Phase 3 clinical trial.

PROOF-HD is a randomized, double-blind, placebo-controlled study evaluating the safety and efficacy of pridopidine in individuals with early stage Huntington’s Disease (HD). The trial is being conducted in the U.S., Canada and nine countries in Europe. This study is being undertaken in collaboration with the Huntington Study Group (HSG), a world leader in clinical research for HD.

Read the full announcement here


New report shows more than 260 medicines in development to fight neurodegenerative diseases

WASHINGTONOct. 12, 2021 /PRNewswire/ — With neurodegenerative diseases affecting millions of individuals in the United States, now is an important time to spotlight the increasing impact these diseases have on our country’s aging population and their families.

The 261 medicines in development include:

  • 85 medicines in development for Alzheimer’s disease, which affects more than 6 million Americans and, along with other dementias, will cost the American economy an estimated $355 billion in 2021.
  • 64 medicines for Parkinson’s disease, which affects nearly one million Americans. Incidence of the disease is expected to rise to 1.2 million by 2030.
  • 38 medicines for amyotrophic lateral sclerosis (ALS). About 5,000 people are diagnosed with ALS each year in the United States.
  • 33 medicines for multiple sclerosis (MS), a chronic neurological disease that affects nearly one million Americans, a number that is substantially higher than previously reported based on a new 2017 study.
  • 25 medicines for neurodegenerative genetic diseases, including Rett syndrome and spinal muscular atrophy (SMA). Both disorders are caused by a gene defect and affect about one in 10,000 children.
  • 14 medicines for Huntington’s disease. There are more than 40,000 symptomatic Americans and another 200,000 at-risk of inheriting the disease with currently no cure for the disease.      

Read the full article here


Sage Therapeutics Receives Fast Track Designation for SAGE-718 for the Treatment of Huntington’s Disease

CAMBRIDGE, Mass.–(BUSINESS WIRE)–Sage Therapeutics, Inc. (Nasdaq:SAGE), a biopharmaceutical company committed to developing novel therapies with the potential to transform the lives of people with debilitating disorders of the brain, today announced that the U.S. Food and Drug Administration (FDA) has granted Fast Track Designation to SAGE-718 for development as a potential treatment for Huntington’s disease (HD). Fast Track is a process designed to facilitate the development and review of new treatments for serious conditions with unmet medical need such as HD.

“HD is an autosomal dominant genetic disorder that impacts the brain and by nature numerous generations of a family. Cognitive decline is often one of the earliest signs of the disease and this decline, in addition to other symptoms, results in a devastating impact on independence, general functioning, and quality of life. We believe that improving cognitive function is one of the core paths to maintaining quality of life in HD and remains an area of significant unmet medical need,” said Jim Doherty, Ph.D., chief research officer at Sage Therapeutics. “In studies to date, treatment with SAGE-718 has been associated with improved cognitive performance, particularly in the domain of executive functioning. The FDA Fast Track Designation is an important milestone in the development of SAGE-718, as it provides opportunities to engage collaboratively with the FDA to further clinical development and future regulatory review of SAGE-718 for the treatment of HD.”


Wave Life Sciences Announces Initiation of Dosing in Phase 1b/2a SELECT-HD Clinical Trial of WVE-003 in Huntington’s Disease

CAMBRIDGE, Mass., Sept. 09, 2021 (GLOBE NEWSWIRE) — Wave Life Sciences Ltd. (Nasdaq: WVE), a clinical-stage genetic medicines company committed to delivering life-changing treatments for people battling devastating diseases, today announced the initiation of dosing in the company’s Phase 1b/2a SELECT-HD clinical trial evaluating investigational WVE-003 as a treatment for Huntington’s disease (HD). WVE-003 is a stereopure antisense oligonucleotide designed to target SNP3, a single nucleotide polymorphism on the mutant huntingtin (mHTT) allele, thereby selectively lowering mHTT protein and sparing healthy, wild-type huntingtin (wtHTT) protein.   

To read the full article, click here.                   



To read full page, visit https://hdsa.org/hd-research/therapies-in-pipeline/

A research “pipeline” is the process of creating, testing, and ultimately approving a new drug for use in humans. HDSA funds researchers and doctors doing HD research at different stages along the pipeline, and collaborates with industry partners to bring information about clinical trials to the public. We also fund human-centric research through the HD Human Biology Project and support young scientists through the Donald King Fellowships and Berman-Topper Career Development Fellowships.  

Preclinical research 

Basic research into what goes wrong in the brain in Huntington’s disease continues to provide insights into how the disease might be treated. As targets are identified, existing drugs and supplements known to address that target are reviewed and drug development efforts are instituted. 

Promising drugs are tested in animal models such as drosophila (fruit flies) and mice engineered to get Huntington’s Disease.  If the results are positive, a drug will be rigorously tested in one or more of the mouse models of HD. If a drug is effective and side effects are tolerable, toxicology studies are done and the drug can proceed to clinical trials. 

Clinical Trials of Drugs

Once a drug is ready for testing in human patients, it must proceed through three phases of clinical trials. Phase 1 is a small trial (20-50 people with HD) testing safety. Phase 2 is a medium sized trial (50-200 people with HD) testing safety and effects of the drug on the body. Phase 3 is a large trial (200-1000 people) testing whether the drug helps with symptoms. A drug must be shown to be safe, well-tolerated, and effective before the FDA will approve it for human use.  

Observational trials

Observational trials do not involve testing a drug – they simply look at human behavior and biology to learn more about HD, through neurological exams, cognitive tests, and blood or biosample donations. By observing and testing people with the HD gene over time and at different disease stages, researchers can discover what is changing inside the brain and body before and after the onset of HD symptoms. This is particularly important for the design of future trials that will need to measure the effectiveness of drugs before symptoms even appear.  

HD family members – gene positive, at risk, gene negative, and caregivers — can volunteer to participate in an observational trial like Enroll-HD 

A Dynamic Process

Although the research pipeline appears to proceed smoothly from pre-clinical research to clinical trials, in practice it is much more dynamic.  Translational researchers may need to go back to basic researchers to have questions answered.  A drug may show clear signs of efficacy in preclinical testing but have serious side effects or require overly large doses to work.  Depending on its potential, there may be further efforts at developing the drug.  A drug that is successfully treating similar symptoms in another neurological disorder may move directly into clinical trials for HD patients. It is important for the HD community to know that Huntington’s research is going on in parallel. Basic research, translational research, and clinical trials are all in progress. There are more than two dozen drugs and supplements actively moving through the pipeline with dozens of others nominated for consideration. When one critical question is answered, efforts turn to other questions.  When one drug fails, resources are quickly redirected to researching more promising ones.