HSP Research Foundation

The following article is about a first ever candidate drug for treating SPG11 that has been identified.

https://pubmed.ncbi.nlm.nih.gov/38876323/

Venglustat has been identified as the first potentially disease-modifying treatment for SPG11. This study provides data supporting its relevance for therapeutic testing in SPG11 patients.

Decreasing ganglioside synthesis delays motor and cognitive symptom onset in Spg11 knockout mice - PubMed Biallelic variants in the SPG11 gene account for the most common form of autosomal recessive hereditary spastic paraplegia characterized by motor and cognitive impairment, with currently no therapeutic option. We previously observed in a Spg11 knockout mouse that neurodegeneration is associated with...

Keeping a track on HSP research globally.

Paraplegia spastica ereditaria, nasce il registro - Telethon Il progetto, promosso da Telethon grazie a un lascito testamentario dedicato, permetterà di raccogliere in modo sistematico i dati.

For our members in Australia, you are invited to join the upcoming webinar.

The Balance Blueprint
All you need to know to improve your balance

Do you struggle with your balance?
Your ability to move safely and with stability can often affect your confidence, and your independence. Including balance training in your rehab program is essential and can have impactful changes on your everyday life.

Join us for a free live webinar with Neurological Exercise Physiologist, Courtney Culverson, as she talks through the benefits of balance training and why it should be a common practice in your neurological rehabilitation.

She will explain what’s involved, how you can work with an exercise physiologist to rebuild capacity and confidence, and how to get the most out of your rehab.
Date: 25th of September

Time : 2pm AEST

Speaker: Courtney Culverson
Neurological Exercise Physiologist

FREE Webinar
Register Now by clicking on the following link.

ARC Patient Webinar Register for the next Advance Rehab Centre Patient Webinar

The following article is about enhanced monitoring of gait to provide data for more precise Botox treatment for spasticity in suitable HSP candidates.

Botulinum toxin injections tailored to individual needs improved outcomes in suitable patients with HSP. Mobile digital gait analysis with machine learning holds promise for monitoring and predicting treatment response.

The following link provides a summary of “Mobile digital gait analysis captures effects of botulinum toxin in hereditary spastic paraplegia,” published in the June 2024 issue of Neurology by Ibrahim et al.

https://www.physiciansweekly.com/capturing-the-effects-of-botulinum-toxin-in-hsps-via-mobile-digital-gait-analysis/

The first four medals from in the
Silver from Roman Polianskyi and Toni Ponce, and Bronze from Dayna Crees and Austin Smeenk

Euro Hereditary Spastic Paraplegia Hereditary Spastic Paraplegia Support Group SpasticParaplegia World

The following article concerns the first case of potentially successful gene therapy in HSP (so far so good) with safety and efficacy both conditionally established - still needs ongoing monitoring over time. Specific type is SPG50

Michael Pirovolakis, a young boy who is the first person to be treated with gene therapy for HSP is showing promising signs that there is treatment efficacy. In the 12 months after he received the treatment, Michael experienced no serious side effects and his condition does not seem to be progressing further.
He also began to show potential signs of improvement. For the first time, Michael was able to stand with his heels on the ground. He also experienced improvements in some aspects of his neurodevelopment.

https://www.news-medical.net/news/20240628/Gene-therapy-milestone-at-SickKids-offers-hope-for-children-with-SPG50-neurodegenerative-disorder.aspx

Source: The Hospital for Sick Children
Journal reference: Dowling, J. J., et al. (2024). AAV gene therapy for hereditary spastic paraplegia type 50: a phase 1 trial in a single patient. Nature Medicine. doi.org/10.1038/s41591-024-03078-4.

An Australian Paralympian with HSP is listed. Good luck to all.

Hereditary Spastic Paralympians 2024 As we are coming up to the Paris 2024 Paralympics, I have had a quick look to see if I can find athletes who have HSP. I started by looking...

Paris 2024 Paralympic Watch Guide When, where and what sports you should check out as the Paris Paralympics get underway.

Well done Arlo!

Community member Kate has known the thrill of success and the sound of silence. For two decades Sydney-born Hood was an “able-bodied actor, writer and director”, with a long-running role in the TV drama Prisoner. In 2003, Kate was diagnosed with HSP.

Please read the attached article on Kate's undertakings including her role in the current production, Cost of Living. Well done Kate, inspirational!

https://www.theguardian.com/stage/article/2024/jul/08/kate-hood-cost-of-living-interview-authentic-casting

Cost of Living is at Bille Brown Theatre in Brisbane until 13 July, then the Sydney Theatre Company Wharf 1 theatre 18 July to 18 August and Melbourne Theatre Company 14 September to 19 October

Ready, willing and disabled: the Australian actors campaigning for more roles – and better training As disabled actors fight for authentic casting, there are still complex impediments to access – and, says Prisoner alumna Kate Hood, ‘we see cripping up all the time’

Lori Renna Linton Lori, the new chair of the ePAG in the ERN-RND.

"It is a 2 yr position and I will do my best to be the voice of HSPers."

Congratulations Lori and many thanks from the HSP Community for your commitment.

We want to get Cured, strongertogether!


Associazione Italiana Vivere la Paraparesi Spastica ETS Hermien Remmelink Adam Lawrence Aepef Stopp HSP Austria AIVips

Fund Research to Cure HSP - Give Today!

What you give makes it possible to fund world-class research aimed at developing treatments and cures for the HSPs.

What you give truly makes a difference -

We left you alone at Christmas time, so it is now 12 months since we asked for your support. We know that times continue to be tough for many community members.

Needless to say, we value the continuing trust you place in the Foundation to invest well in HSP research and we are highly aware of our reliance on you through giving to make that possible.

Our resolve has neither been dented nor diminished. The needs and interests of people in the HSP community are the sole guide for the volunteers who do the work of the Foundation. We hope, your resolve and the resolve of others in the HSP community remains strong.

Claim a Tax Deduction

The research happens only with your funding support and that of others like you in the HSP community. Claim a tax deduction for any amount $2 or over. Give Today!

Matching Offer!!

Donate this June and a Community Member has offered to match every dollar donated up to $10,000 so every dollar you give will be effectively doubled.

Ask others to give too -

Share this email with family and friends; share on your Facebook, Twitter or other networks and ask others to give as well.
Help fund research to find cures for the HSPs ... create a brighter future for all!

4 ways to give
Transfer online from your bank account, or use credit card, PayPal or cheque in the mail.

EFT
Electronic funds transfer (EFT) online from your bank or credit union.
Account name: HSP Research Foundation Inc
Bank: nab
BSB number: 082 294
Account number: 39 853 8301
Description: enter your name
Email the confirmation to [email protected] and we will email you a tax receipt.

Credit Card
Online giving is kindly provided through the GiveNow service of OurCommunity. You will be emailed a tax receipt. You can also set up to give regularly.
https://www.givenow.com.au/hspresearch

PayPal
For speed and convenience, nothing beats PayPal. You don't even need an account.
https://www.paypal.com/donate/?cmd=_s-xclick&hosted_button_id=H45XRUZ9ZTKTU&ssrt=1718537746556

Cheque
Mail a cheque, bank draft or money order made out to the ‘HSP Research Foundation’ to:
HSP Research Foundation
P.O. Box 4064
Warrimoo NSW 2774
Include your name and email or mailing address so that we can send you a tax receipt.

Kind regards

Ken
Ken Price
President

For our Australian members, the group Every Australian Counts has organised a forum for 11 May to assist understand changes to the NDIS. If interested, please feel free to register.

📅 Join Us for the EAC Forum on the changes that the government wants to make to our NDIS that are currently being considered by our parliament and have your say.

🕛 Date and Time: 12.00pm-1.30pm AEST Saturday 11th May 2024

🌐 Location: Zoom

🔍 Forum Highlights:
- Understanding the Changes: Learn about the changes and what they might mean for you.
- The forum will feature Mitchell Skipsey, Senior Lawyer at the Public Interest Advocacy Centre (PIAC) who will provide an outline of the proposed changes.
- Interactive Q&A: Ask your questions about the changes
- Open Discussion: Voice your opinions and concerns. Your input is essential in shaping our advocacy.

🔗 Registration Details: Registration is essential to attend this forum. Register here: https://events.humanitix.com/eac-forum-on-the-ndis-bill-what-s-changing-and-have-your-say

📢 Accessibility Options: An Auslan interpreter and live captioning will be available to ensure that everyone can participate. For any additional access needs, please contact us at [email protected].

💡 Make sure to check out the most recent episode of Reasonable and Necessary for an expert analysis of the bill here: https://www.youtube.com/watch?v=Ygxfw0YNeVk&ab_channel=SummerFoundation and read PIAC’s explainer here: https://piac.asn.au/2024/04/18/explainer-getting-the-ndis-back-on-track-bill/

Please join us in making sure the NDIS delivers on its promise to people with disability.

We thought our Australian followers would be interested in this article/petition which has been started by Accessible Beaches Australia (ABA) to enhance beach accessibility for people with disabilities.

Out of almost 12,000 beaches nationwide, less than 2% are currently accessible. This leaves many of the 4.4 million Australians living with a disability excluded from participating in our most iconic summer activities.

ABA is calling on the federal government to increase funding and support to Councils and Surf Live Saving Clubs to make our beaches more accessible to people with disabilities and mobility challenges. ABA believes the beach is for everyone and envisions a future where accessible facilities and equipment become staples at beaches nationwide.

Click on the following link if you wish to complete the petition.

https://www.change.org/p/make-australia-s-beaches-accessible?source_location=tag_

Why is it important to raise awareness? on Rare Disease Day Thinking about all our HSP community today being one of the Rare ones...

Bringing awareness to rare diseases is crucial as it sheds light on the specific challenges faced by those affected. From struggling to get a correct diagnosis due to limited knowledge among healthcare professionals to the financial burden of accessing expensive treatments, people often face uphill battles.

Moreover, the absence of tailored support networks can lead to feelings of isolation and misunderstanding. By sharing their stories and advocating for greater understanding, we can pave the way for improved resources, research, and ultimately, better quality of life. 💙

Rare Disease Day falls this year on February 29, an invitation to leap into awareness about rare conditions that impact more than 300 million lives worldwide.

Just a gentle reminder of some ways to do some fundraising and how to raise awareness - all donations go towards working hard on researching and finding a cure. https://hspersunite.org.au/give/fundraising/

For more information on HSP Research Foundation and and ways to better manage the condition and other helpful resources please visit https://hspersunite.org.au/

With over 300 million people, if the rare disease community were equivalent to the population of a country, it would be the 3rd largest country in the world, only behind China and India!
1 China 🇨🇳
2 India 🇮🇳
3 People living with a 💚🩷💜🩵💙
4 United States 🇺🇸
5 Indonesia 🇮🇩

Rare Disease Day 29 February 2024.

Rare Disease Day Official Video 2024 Rare Disease Day 2024 shines a light on the global and diverse community of over 300 million people living with a rare disease and their families. Learn more...

AKV9 (NU-9) approved for clinical trial - AKV9 (formerly NU-9) has got the green light from the U.S. Food and Drug Administration for Phase 1 first-in-human study to evaluate safety and tolerability. https://hspersunite.org.au/akv9-nu-9-approved-for-clinical-trial A key member of the research team that developed the compound, Prof. Hande Ozdinler (pictured), has foreshadowed potential applicability to the treatment of the HSPs, separate from its primary purpose at this stage, which is the treatment of motor neurone disease (ALS).

WINNETKA, Ill.– Business Wire –Akava Therapeutics, Inc., a pioneering biopharmaceutical company focused on developing first-in-class small molecule therapeutics that act through inhibition of key pathways in neural crest-derived targets for a variety of neurodegenerative diseases and cancers, celebrates a significant achievement.

On July 3rd 2023, the U.S. Food and Drug Administration cleared Akava’s Investigational New Drug (IND) application for the treatment of amyotrophic lateral sclerosis (ALS) to proceed with a Phase I first-in-human study in healthy subjects using Akava’s investigational new drug, AKV9 (formerly NU-9). The study will evaluate the safety, tolerability, and pharmacokinetics of single and multiple ascending doses of AKV9.

SOURCE: Business Wire August 22, 2023
Akava Therapeutics, Inc. Announces FDA Clearance of Investigational New Drug Application for the Treatment of Amyotrophic Lateral Sclerosis
Akava Therapeutics, Inc. press release

To keep upto date with more findings and read more HSP Research Foundation related articles via the HSP Research Foundation website https://hspersunite.org.au/

The HSP Journey - Helpful infographic developed. Read the Article via the HSP website here https://hspersunite.org.au/the-hsp-journey/ or view more helpful links below.

Chair of the UK HSP Support Group, Adam Lawrence, and Secretary of Euro HSP, Lori Renna Linton, both of whom have HSP, collaborated as members of the European Reference Network on Rare Neurological Diseases (ERN-RND) to chart the journey that people with HSP take.

A more detailed version of the charthttps://hspersunite.org.au/wp-content/uploads/2023/02/50-ERN-RND-HSP-pt2.pdf (need to Zoom to enlarge once open).

Patient Journeys are info-graphical overviews that visualize patients’ needs in the care of their rare disease. Because Patient Journeys are designed from the patient’s perspective, they allow clinicians to effectively address the needs of rare disease patients.

Patient Journeys consider that patients’ needs may differ at different stages of the disease – e.g., initial symptoms vs. treatment. They also reflect the patients’ personal experiences, which may vary depending on the person, clinic and country.
ERN-RND considers Patient Journeys working documents that patients and clinicians can use together to identify gaps in care and adapt care pathways to better meet the needs of patients living with these conditions. Patient Journeys can therefore be seen as a first step toward systematic patient engagement in the design of care pathways.

In addition, Patient Journeys are a useful resource for patients, families, non-specialist clinicians, and the general public to understand the care needs of patients living with a rare neurological disease.

The Patient Journey for Hereditary Spastic Paraplegias (HSPs) was developed together with Adam Lawrence, chair of the UK HSP Support Group and Lori Renna Linton, ERN-RND ePAG representative for: Ataxia/HSP.

READ MORE HERE: https://www.ern-rnd.eu/patient-journey-hereditary-spastic-paraplegias-hsps/

Read more HSP related articles via the HSP Research Foundation website https://hspersunite.org.au/

Seated Exercise at Home a view anytime webinar. The Foundation presented a webinar on ‘Seated Exercise at Home’ led by exercise physiologist Lisa Meng of Advance Rehab Centre in Sydney. https://hspersunite.org.au/seated-exercise-at-home/

Watch Video Here: https://www.youtube.com/watch?v=U-vdUUO0vhk

Thank you for the valuable feedback on the floor exercise and the difficulties for many members to do floor exercises we hope you find these seated exercises more accessible.

The webinar topic was the top-rated choice in a survey of people at the previous AGM.

It was a highly informative and practical session with participants doing the exercises as they were presented.

Use this video to guide your seated exercise program at home. Just follow along with the exercises until you learn the routine.

This could be a daily or every-other-day program.

Always consult your doctor before starting a new program.

Read more HSP related articles via the HSP Research Foundation website https://hspersunite.org.au/


https://www.youtube.com/watch?v=U-vdUUO0vhk

Seated exercise 10 22

2 Exercises for HSP to add to your routine. Exercise physiologist Lisa of Advance Rehab Centre in Sydney did a webinar https://hspersunite.org.au/seated-exercise-at-home/ ‘Seated Exercise at Home’ for the HSP community.

Here are two exercises https://hspersunite.org.au/2-exercises-for-hsp/ from her that can help increase step length, improve balance, and counteract hamstring tightness.

Lisa writes: General strengthening of hip extension helps with increasing step length (usually smaller step length in people with HSP if there’s glute weakness) and overall hip control to help with improved single leg balance or balance in reduced base of support. Quad strength – general for targeting weakness in quad muscles if they’re affected by HSP can have trouble straightening the leg, can also help offset any hamstring tightness.

Exercise 1: Kneeling squat to shoulder press

Start by kneeling on your feet with your head and chest tall, if you struggle with this end range, place a pillow/cushion on top of your lower legs to reduce the range of motion. When you’re ready, rise up into a high kneeling position. Extend your arms up from your chest to above your head, and then back down – you can add a weight as a progression. Lower your body back down, slowly by using the quads to control the kneeling back down.

Muscle groups targeted: Quads, glutes, core, shoulders
Benefits for HSP:

• Provides a quad stretch at the beginning of movement
• Works on core control
• Targets hip extension (glutes)
• Forces the quads to control eccentrically
• Functional position.

Exercise 2: Banded glute bridges

This is a way to add load to a traditional glute bridge exercise. Lying on your back with your knees up and feet flat on the ground, hold a theraband (exercise band) across your hips (you can adjust the tension as needed). Lift your hips up by pushing off your heels, hold the top position for a second before lowering back down.

Muscle groups targeted: Glutes, hamstrings, core
Benefit for HSP:
• Add load for hip extensors (glutes)
• Core activation
• Provides a stretch at end range for hip flexors and quads.

Read More HSP Related articles Via the HSP Research Foundation website. https://hspersunite.org.au/

Well done Arlo and best wishes to you and family for 2024.

We have received the following message from community members, Chris and Golden Whitrod. They have a child with SPG56 and have set up an organisation that funds gene therapy research for SPG56.


🌟 SPG56 Gene Therapy: Expressions of Interest 🌟
Dear SPG 56 / HSP 56 Patients,
We're thrilled to share a major milestone in our journey! After two years of dedicated development and testing, we're gearing up for clinical trials. Our Gene Addition therapy, akin to Zolgensma®, holds the promise of delivering a functioning CYP2U1 gene—a one-time treatment scheduled for trials in Q3 2024.
🚀 Expression of Interest: We invite SPG56 patients, along with their families and caregivers, to express interest in joining this transformative journey. Share your situation, questions, or anything you'd like us to know. Your confidentiality is our priority. Email [email protected] for more information.
💙 Community Collaboration: Please note that this groundbreaking initiative involves collaborative funding efforts. Your support, combined with that of other families, will help make this journey possible. Together, we are stronger!
🌐 Spread the Word: Kindly share this message with fellow SPG56 HSP56 families. Let's pave the way for a brighter future!
https://www.facebook.com/ourmoonsmission
Our Moon's Mission: Genetic Cures for Kids
Please help save Tallulah Moon and all kids living with SPG56.

Our Moon's Mission: Genetic Cures for Kids Please help save Tallulah Moon and all kids living with SPG56. We fund research to cure rare disease.

Have you heard about the plan implementation directory?
The plan implementation directory is an online resource that has been designed with participants – for participants. It is what participants told us they needed to help them understand their plan.

The directory has useful links and information from the NDIS website that can empower you with more choice and control of your plan

To find out more, visit the directory :
https://www.ndis.gov.au/participants/plan-implementation-directory

Mounted on the wall of honour in the Roma Street Parklands in Brisbane. A very worthy acknowledgement.

Potential drug treatment for SPG5. Read the full article here: https://hspersunite.org.au/potential-drug-treatment-for-spg5-found/

SPG5 https://neuromuscular.wustl.edu/spinal/fsp.html is one of the forms of HSP where the disruption to lipid metabolism (how the body manufactures and uses fats such as cholesterol) is the mechanism that causes the disease.

Chenodeoxycholic acid (Xenbilox) has been found to restore lipid balance and stop the degeneration of the long arm of the neuron (axon https://en.wikipedia.org/wiki/Axon) in stem cell-derived SPG5 neurons in the lab. The research established a cause-and-effect relationship between gene deficiency and axonal degeneration. Some associated structural abnormalities in the neurons were also found and also restored to normal by the treatment.

Chenodeoxycholic acid is already an established treatment for a related genetic disease, cerebrotendinous xanthomatosis (CTX) https://rarediseases.org/rare-diseases/cerebrotendinous-xanthomatosis/.

SOURCE: Orphanet J Rare Dis. 2023 Apr 6;18(1):72. doi: 10.1186/s13023-023-02666-w. PMID: 37024986 © 2023.
Image: Xue-Jun Li Professor, Biomedical Sciences, UIC
Please refer to Blog for The Author(s) and more information.

Read more…
https://hspersunite.org.au/potential-drug-treatment-for-spg5-found/

For more on the HSP Research Foundation website: https://hspersunite.org.au

For our members in Western Australia or if you have used these services. Please respond directly to the organisers.

Seeking feedback on Genetic Services Western Australia.

You might have seen GSWA for genetic screening or testing, or for the diagnosis or management of a genetic condition. You might have seen a geneticist or genetic counsellor, or both.

The feedback will be used to develop held GSWA plan for their future, and to improve the experience of those who use their services.

We want to hear from:
Patients or clients of GSWA, who have attended an appointment in the last 10 years
People who have been referred to GSWA by a GP or specialist in the last 10 years, but didn’t attend an appointment
Carers of patients or clients of GSWA
People who work for community, peer support or consumer advocacy organisations that support people living with genetic conditions who may have attended GSWA

There are several ways you can provide your feedback:
You can fill out a short survey on this link https://forms.office.com/pages/responsepage.aspx?id=0AmgChBCtEWJuWBylO-xeAAjcD3i0oBOkKlqHlBONPpUQVJIS1pOTFlNV0lXOFIxS1EzSjNMU1BXSy4u AND/OR
You can join a group community conversation in August by registering here OR
You can request an individual phone interview (please contact us on the details below)
You can find out more about this project, and about GSWA, in our FAQs.