CureDRPLA

Upcoming webinars on DRPLA with the National Ataxia Foundation

Silvia Prades — Wed, 15 Apr 2026 13:20:32 +0000

We are co-hosting a couple of webinars on DRPLA with the National Ataxia Foundation (NAF) to reach as many people as possible. We encourage anyone with DRPLA, family members, caregivers and friends to join to learn more.

The “All About DRPLA” webinar is taking place on May 8 at 1pm CDT / 7pm BST. This session will be presented by Dr Yael Shiloh-Malawsky, Professor of Neurology at the University of North Carolina at Chapel Hill.

You can register for this session here: https://www.ataxia.org/event/all-about-drpla/

The “Research and Treatment Development for DRPLA” webinar is taking place on May 21 at 10am CDT / 4pm BST. This session will be presented by Dr Silvia Prades, Research and Business Operations Manager for the DRPLA Research Programme at CureDRPLA and Ataxia UK.

You can register for this session here: https://www.ataxia.org/event/research-and-treatment-development-for-drpla/

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Presenting DRPLA research projects at conferences

Silvia Prades — Mon, 23 Mar 2026 13:30:00 +0000

Updates from conferences in the United States

Prof Melissa Barker-Haliski and Dr Joanna Korecka-Roet, together with their teams and collaborators, who presented a poster entitled “Investigational ASOs for Disease Modification and Seizure Control in DRPLA” at the American Epilepsy Society (AES) meeting in December.

With a grant from AES, they worked with a DRPLA mouse model and showed how early intervention with an antisense oligonucleotide reduced the number of seizures and improved the ataxia symptoms. Their research builds on earlier work and looks more closely at the epilepsy symptoms seen in these mice, which we first reported here.

This group of scientists is presenting further updates to their work at another conference, the 2026 American Society for Pharmacology and Experimental Therapeutics in May.

Updates from conferences in Japan

Junko Shiozawa, Advisory Board Member for CureDRPLA, has played a key role in building a community of Japanese individuals with DRPLA and their families. To formalize her work and expand the impact of such initiatives in Japan, Junko has created the DRPLA Family Network (DFN). CureDRPLA and DFN have strong ties, continue to work together, and will collaborate as needed to fulfill our missions. DFN is off to a great start and is already collaborating with researchers and clinicians based in Japan.

70th Annual Meeting of the Japanese Society of Human Genetics

A poster entitled “A Study of the Natural History of DRPLA in Japan” was presented by Prof Yukitoshi Takahashi, his collaborators and the DRPLA Family Network. In this poster, they looked at the progression of symptoms in 43 people with DRPLA.

A second poster was presented at this conference entitled “DRPLA in Japan: real-world data based on J-CAT” by Prof Yuji Takahashi, Prof Hidetoshi Date, Prof Yuka Hama and Prof Hidehiro Mizusawa. The Japanese Ataxia Consortium (J-CAT) is a nationwide online registry for all types of ataxia. Among the 3,474 people enrolled in J-CAT in May 2025, 82 were diagnosed with DRPLA. Such registries allow clinicians to better characterise DRPLA and identify participants for future studies, including clinical trials.

45th Annual Meeting of the Japanese Society of Nursing Science

Prof Ryoko Okui, Prof Yuko Nagashima and Prof Yukie Takada from Komazawa Women’s University presented a posted entitled “Experiences of Families Living with DRPLA”.

From speaking with families affected by DRPLA, the clinicians were deeply moved by the severity of their experiences and the strength they show in continually rebuilding their lives. Even in the face of uncertainty, many shared that the N-of-1 trials brought a small but meaningful sense of hope. Several also expressed that, while progress may not come in time for their own loved ones, they find purpose in helping future generations and in raising awareness to reduce the stigma surrounding genetic conditions.

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Information on genetic testing

Silvia Prades — Mon, 16 Mar 2026 11:48:37 +0000

DRPLA is diagnosed with a genetic test that checks whether a person has the specific change in their DNA that causes the condition. In DRPLA, this test looks for a section of the ATN1 gene that repeats the letters CAG many times. If someone has 48 or more CAG repeats, it confirms that they have DRPLA.

DRPLA is autosomal dominant, meaning that an affected person has a 50% chance of passing the expanded repeat to each child. Because of anticipation, children may inherit a larger repeat expansion than their parent, leading to earlier or more severe symptoms. This information is especially important for family planning and for relatives considering predictive testing.

Genetic testing can be used in two contexts:

Diagnostic testing for individuals already experiencing symptoms suggestive of DRPLA.
Predictive (presymptomatic) testing may be available to adults with a family history of DRPLA. Predictive testing is not recommended for individuals under 18 unless there is a clear medical benefit.

Undergoing genetic testing is a personal choice and should be discussed with your doctor on an individual basis. As part of the process, you will usually speak with a genetic counsellor. They can help you understand what the test involves and support you in deciding whether it might be right for you.

Eligibility, costs, and availability vary significantly by country and healthcare system. Some regions offer testing through national health services or research programs, while others require specialist referral or insurance approval. We recommend starting with your local healthcare provider or genetics clinic to understand your options. You can also reach out to us, and we may be able to direct you to resources tailored to your needs and local regulations.

To read more about how ataxia is diagnosed, refer to this page.

If you are based in the United States and would like more information, visit this page about genetic counseling and testing by CDC.

If you are based in the United Kingdom and would like more information, visit this page about genetic services and testing by Genetic Alliance UK.

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Wishing Prof Jeff Carroll every success on his next chapter

Silvia Prades — Wed, 11 Mar 2026 14:36:50 +0000

Prof Jeff Carroll has been our longstanding Scientific Advisor since CureDRPLA was founded and after seven years in the role he has resigned to pursue new opportunities. While we will miss Jeff on our team, we are grateful for the time he spent with us and for the scientific expertise he brought to the role.

Jeff was instrumental in setting the direction of CureDRPLA and shaped our strategy for which therapeutic modalities to prioritize. A key milestone driven by Jeff was the development of mouse models of DRPLA to test possible treatments.

We thank Jeff for his many contributions and wish him every success in his next chapter. He leaves big shoes to fill; however, we are exploring our options and hope to appoint a replacement soon.

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The Ataxia UK Helpline services are available for people with DRPLA

Silvia Prades — Mon, 09 Feb 2026 10:19:55 +0000

If you live in the UK and you or someone in your family has DRPLA, you can use the Ataxia UK Helpline services to access information, advice and support.

The Helpline is a resource and support hub for people who are affected by ataxias. As well as providing support and information around diagnosis, treatment and living with ataxia, there is a range of other issues they can help with, including:

Benefits
Housing
Finances
Care needs
Health needs
Mental health
End of life care
Aid and adaptations
Transport and travel
Employment
Education
Accessing Grants

While the people on the Helpline are not experts on DRPLA, they are well placed to provide advice on the topics listed above. They also have an advocacy service for anyone that needs a little extra support with any of these issues. However, if your questions are very specific to DRPLA symptoms or management, you may prefer to reach out to CureDRPLA directly.

If you would like to find out more about the Helpline, or talk to a member of the team, please get in touch by calling 0800 995 6037 or by emailing help@ataxia.org.uk.

The Helpline is open Monday to Thursday 10.30am until 2.30pm UK time.

For those outside the UK:

If you do not live in the UK and would like support in these areas, please contact CureDRPLA at info@curedrpla.org. We might be able to signpost you to other organizations or resources that are tailored to your country and needs.

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Watch the recording of the 2025 DRPLA Research Update

Silvia Prades — Thu, 22 Jan 2026 15:46:44 +0000

We recorded our annual update so you can watch it at your own pace. It includes updates on our organization, N-of-1 trials, DRPLA Natural History and Biomarkers Study, Patient Registry and other relevant news and projects.

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Updates from the DRPLA Centers of Excellence

Silvia Prades — Thu, 22 Jan 2026 15:01:28 +0000

CureDRPLA awards DRPLA Centers of Excellence accreditations to those neurologists who have experience in DRPLA care and commit to supporting our work. In addition to providing expert clinical care and identifying the various needs of those diagnosed with DRPLA, this initiative also aims to help families more easily identify clinical experts in DRPLA for their healthcare needs.

Once a center has been accredited, we reach out each year to gather an update on how their clinic is progressing and whether the accreditation has had an impact. It was encouraging to see that our accreditations may already be making a difference:

Eight more people with DRPLA were diagnosed over the last year by Dr Gan at The First Affiliated Hospital in China.
Two additional families with DRPLA visited Dr Jee-Young Lee’s and Dr Ryul Kim’s clinic at the SMG-SNU Boramae Medical Center in South Korea. They are also seeing an increase in contacts from physicians at other hospitals who want to refer people with DRPLA to this center.

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Ataxia UK and CureDRPLA provided feedback regarding the scope of a framework under development for individualized treatments in the UK

Silvia Prades — Tue, 13 Jan 2026 17:22:00 +0000

In the past, we have reported that the US is further ahead with individualized genetic therapies and N-of-1 trials for ultra rare conditions such as DRPLA because established systems and frameworks enable this work. It is encouraging to see other countries, such as the UK, develop new frameworks for these purposes. While it is still early days, we welcome these developments and are actively engaging in efforts to support system change.

NHS England opened a consultation to seek feedback on an operational framework they are developing to support the future use of individualised genetic therapies in the NHS in England. They invited stakeholders to comment on what we thought should and should not be included in this framework.

Ataxia UK and CureDRPLA were well positioned to participate in this consultation. We have experience from the N-of-1 trials for people with DRPLA that are ongoing in the US. And we understand the strong desire from some families to access individualised genetic therapies in their home country and the current lack of access to such therapies outside the US.

This initial document outlined that the NHS does not have allocated funding for the delivery of individualised genetic therapies, like N-of-1 trials, for the spending review period up to 2028/29. Once the framework is developed and in place, funding for such therapies would temporarily rely on research funding, not-for-profit or philanthropic sources. While establishing a framework to deliver genetic therapies within NHS settings is a major step forward and could represent a transformative change for people with ultra‑rare conditions such as DRPLA, in the consultation we highlighted the importance of allocating dedicated NHS funding. We also highlighted that the framework being developed should consider individualised genetic therapies that are already available in other countries.

As part of the consultation, we were not informed about how the feedback will be processed or when the framework will become operational. We will keep the community updated as more information becomes publicly available.

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Watch the recording of the 2025 DRPLA Research Update

Silvia Prades — Fri, 12 Dec 2025 10:48:15 +0000

Did you miss the meeting on November 12? We recorded the presentation so you can watch it at your own pace. The video is available on our YouTube channel.

This talk includes updates on our organization, N-of-1 trials, DRPLA Natural History and Biomarkers Study, Patient Registry and other relevant news and projects.
We would like to extend our gratitude to everyone who joined the meeting, it was wonderful to connect with some of you. We are also incredibly thankful to Dr Yael Shiloh-Malawsky and Dr Hector Garcia-Moreno for attending and taking the time to answer all your questions.

If you have any questions about the topics covered in this talk, please reach out.

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Clinical and genetic findings in group of people living with DRPLA in China

Silvia Prades — Thu, 30 Oct 2025 14:48:26 +0000

The most comprehensive description of symptoms and findings from clinical tests, brain scans, and blood tests from people living with DRPLA has been published by Dr Shi-Rui Gan and his collaborators based in China.

They enrolled 116 people living with DRPLA across China:

96 had symptoms (called “manifest”), of which 73 presented with adult-onset DRPLA (age of symptom onset >20 years) and 23 with juvenile-onset DRPLA (age of onset ≤20 years).
20 people has been diagnosed but had no major symptoms yet (called “prodromal”).

Study participants ranged from 2 to 71 years old and with 49 to 83 CAG repeats.

Adults usually first noticed balance problems or clumsiness (84% started with walking difficulties). Many also had involuntary movements and trouble thinking clearly. Children and teenagers often first had seizures and developmental delays. Almost all patients developed ataxia (problems with balance and coordination) as the disease progressed.

Analysis of brain scans revealed that in the early-stage (prodromal), the damage was limited to the cerebellum, which is the part of the brain that controls balance. In those with more clear symptoms (manifest), the damage was more widespread, including deeper brain regions. These changes help explain both movement and cognitive symptoms.

The team measured a protein in blood called neurofilament light (NfL), which increases when brain cells are damaged. NfL levels were much higher in people with DRPLA who had symptoms than in those without symptoms or in people without DRPLA (controls). More research is needed to confirm this, but perhaps NfL could be used as a blood marker to monitor progression.

The researchers found a unique genetic fingerprint (a set of 8 small DNA variations) that was the same in all the Chinese families with DRPLA. This suggests a shared ancestral origin of DRPLA within China.

This study is cross-sectional, meaning that the data were collected at a single point in time. While this approach helps clinicians better characterize DRPLA and understand how it presents in different individuals, it does not provide insights into how symptoms change or progress over time. To capture that progression, researchers need to collect clinical data and biosamples repeatedly as part of a longitudinal study like in the DRPLA Natural History and Biomarkers Study. Much like taking a video on the same day each year to see how things evolve and differ over time.

To read the full scientific article by Dr Gan, visit this page.

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