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HD Clinical Studies

HD Clinical Studies, Hope

uniQure Announces First Two Patients Treated in Phase I/II Clinical Trial of AMT130 for the Treatment of Huntington’s Disease

In case you missed uniQure announcement regarding AMT-130, I’m posting the great news for the Huntington’s Disease community around the world.  One of the locations for a clinical for AMT-130 is Ohio State.


~ Milestone Marks the First-in-Human AAV Gene Therapy Trial for Huntington’s Disease ~ Lexington, MA and Amsterdam, the Netherlands, June 19, 2020 —

uniQure N.V. (NASDAQ: QURE), a leading gene therapy company advancing transformative therapies for patients with severe medical needs, today announced that the first two patients in the Phase I/II clinical trial of AMT-130 for the treatment of Huntington’s disease have been treated. To read the complete news release, visitAMT-130_Huntingtons_Disease_FINAL.pdf

I’m a Huntington’s disease advocate, the Chair for HDSA San Francisco Bay Area Affiliate, a blogger and the author of the nonfiction book, Watching Their Dance: Three Sisters, a Genetic Disease and Marrying into a Family At Risk for Huntington’s.

John and I have donated 100% of the profit from the book to the nonprofit, Huntington’s Disease Society of America (HDSA).  To date, we’ve gifted over $15,000.00. Review by

My family wants to see the eradication of this horrific disease that has devastated the Marin Family for generations.

We Can Never Lose HOPE……………



HD Clinical Studies

Oct. 14-Update on the Phase III GENERATION Huntington’s Disease1 Study

Great News for the Huntington’s disease from Roche/Genentech:

Dear global HD patient community,

Today we are pleased to announce that we are increasing the total enrolment in the GENERATION HD1 study (NCT03761849) from 660 to 801 participants worldwide. We believe that increasing enrolment now – before study recruitment closes – keeps the study on track to complete within expected timelines. This study change does not impact participants already enrolled in the study, but it allows for additional patients to enrol in each of the three study groups. The GENERATION HD1 study is evaluating the efficacy and safety of the investigational molecule RG6042 in people with manifest HD. The 25-month study is testing two dosing regimens compared to placebo – RG6042 once every two months (eight weeks) or RG6042 every four months (16 weeks). The open-label extension of the Phase I/IIa study is ongoing and supports the exploration of the two dosing groups in the GENERATION HD1 study.

Why are we making this change?

More data: The additional number of participants will provide more data to equally evaluate both dosing groups, as well as increase the statistical power of the study. This is a technical study design term that refers to the study’s ability to detect a treatment effect. In interactions with the HD community, we have learned the importance of testing both doses – while acknowledging that less-frequent dosing would be less demanding for patients, families and the overall healthcare system in the real-world setting.

More confidence: Prior to GENERATION HD1, a study of this size involving an intrathecally administered investigational medicine has never been conducted in HD. Since the study started recruiting this summer, enrolment has been remarkably rapid worldwide. Based on the interest from the HD community, we are confident that a larger study can fully recruit.

More diversity: Expanding recruitment allows for enrolment of more patients in different parts of the world. US recruitment in particular has exceeded expectations and is now complete. Therefore the additional participants will be enrolled from our network of existing trial sites in nearly 20 countries outside of the US to diversify the study population. Achieving broader global representation in clinical trials is important to our company, as well as health authorities around the world.

We are also pleased to announce that the GENERATION HD1 study is being extended to China. This will be the first time a study testing a Huntingtin-lowering therapy will be brought to the country. Information about Chinese study sites will soon be posted on

The community has been a critical partner throughout the development and progress of the GENERATION HD1 study. The speed of recruitment is thanks to the clinical-trial readiness and commitment of the HD medical and patient community to researching treatment options. We appreciate the partnership with the community and we look forward to providing future study updates.


Mai-Lise Nguyen, on behalf of the Roche & Genentech HD team Global Patient Partnership, Rare Diseases

We Can Never Lose HOPE…………..

Author Therese Crutcher-Marin

I’m a Huntington’s disease advocate having lost my three (3) sisters-in-law to the disease.  To read my HD journey, an inspirational Love story while living in the shadow of HD, see my author website


HD Clinical Studies

Good News for the Huntington’s Disease Community

On September 16, the Huntington’s disease community received the news they have been waiting for.  Roche & Genentech: one company, two names, announces its plans to begin the clinical trial on the drug RG6042 (formerly known as IONIS_HTTRx).

The Ionis-HTTRx drug is an antisense therapy. It targets messenger RNA, a molecule that is an intermediary between DNA, the cell’s genetic material, and the huntingtin protein. Cells use the message as a template to produce the protein. It is designed to stick to a faulty HTT gene’s messenger RNA, reducing the amount of abnormal huntingtin protein the gene generates.

Huntington’s disease (HD) is like having Alzheimer’s, Parkinson’s and ALS at the same time.  There is NO CURE and it affects children and adults.

Update on RG6042 (formerly known as IONIS-HTTRx)

Huntington’s disease global development programme: Two clinical studies to begin by end of 2018

Dear Global Huntington’s Community,

Thank you for your ongoing support and interest in the investigational medicine RG6042 for Huntington’s disease (HD).

Over the past months we and our partner Ionis Pharmaceuticals have been heavily engaged with communities around the world (patient groups, medical professionals, Health Authorities and payers) to collaborate and build the RG6042 global development programme and upcoming studies. We are eager for RG6042 to advance into further clinical development. In addition, as announced last month, the European Medicines Agency granted RG6042 PRIME (“PRIority MEdicine”) designation, which provides promising medicines enhanced interactions with the agency and the potential for accelerated evaluation.       Read the full article here

Article from   Roche announces details of its ‘pivotal’ huntingtin lowering study 

Article from


Author Therese Crutcher-Marin

We Can Never Lose Hope……….