Author: SSAdmin

Phase 1 study in humans

Drum candidate AKV9 (formerly NU-9) has got the green light from the FDA for Phase 1 first-in-human study to evaluate safety and tolerability. Key member of the research team that developed the compound, Prof Hande Ozdinler, 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 3^rd, 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

Expansion of SPG50 clinical trials

DALLAS – June 27, 2023

A consortium of government, industry, and nonprofit partners in the USA will fund gene therapy clinical trials for three different rare diseases at UT Southwestern Medical Center and Children’s Health, where scientists are working on gene therapies to treat neurodevelopmental disorders in children.

Testing on a total of eight genetic diseases was approved for funding by the Bespoke Gene Therapy Consortium (BGTC), a public-private partnership among the National Institutes of Health (NIH), the Food and Drug Administration (FDA), biopharmaceutical and life science companies, and other organizations. Launched in 2021, BGTC aims to create a “playbook” to standardize and streamline the process of developing gene therapies and getting them to patients – an effort that could significantly accelerate the process and lower costs.

At UT Southwestern and Children’s Health, the funding will expand an ongoing clinical trial on a gene therapy for spastic paraplegia type 50 (SPG50) involving two patients and being led by Susan Iannaccone, M.D., Professor of Pediatrics and Neurology. The new funds will allow the trial to include more patients at additional sites.

Read more.

SOURCE: UT Southwestern Medical Centre

Public-private consortium will fund three gene therapy clinical trials at UT Southwestern and Children’s Health

News release, June 27, 2023

Another project with community member Jason

Recently we featured community member Jason from New South Wales, a surveyor, who is working on accessibility mapping of urban areas around the country. Jason has now completed accessibility mapping in Kalgoorlie, Western Australia.

A city official in Kalgoorlie said that the city is proud to be working with Australian-owned and operated Briometrix, who recently had their pilot team undertake an analysis and review of the user experience for anyone using wheels on footpaths across our city – including wheelchairs, prams, strollers, and other mobility aids.

Two key outcomes of the project include the development of an ‘effort map’ which will assist residents and visitors with barriers to accessibility to plan their trips around the city. It will also identify hazards, repairs, and maintenance requirements that will assist the City’s Engineering department when planning future civil works.

Improve walking, help prevent falls

Exercise physiologist Lisa Meng of Advance Rehab Centre in Sydney offers two more exercises to add to your normal routine.

Balance when walking is the focus of this set of exercises. Research shows that balance can be improved with HSP

Balance can be improved in HSP

Lisa writes:

As people with HSP know, spasticity reduces the ability to coordinate smooth and purposeful movement that normally would assist with maintaining balance or reacting well enough when off-balance to prevent a fall.

Training the leg muscles, especially in the ankle, can help improve the “recruitment” of muscles required to maintain balance when at risk of losing it, tripping or falling, which some with HSP experience almost every day.

Practice all balance exercises in a safe environment, such as near a wall or sturdy support or with someone spotting you. To achieve the best results for balance training:

• Try not to use your hands for support during the exercise, or just use your fingertips. If you are unable to let go of supports at all, the exercise may be too challenging for you and may need to try an easier version
• If you are wobbly, try to respond to the loss of balance by using your feet and taking a “reactive” step, rather than grabbing onto a support, just as long as this is safe for you to do so.

1. Mini squat foot taps

• Stand either on firm, flat ground / floor (to start with) or a foam pad (more challenging) with your feet shoulder-width apart (Photo 1).
• Standing tall with chest out, bend your knees slightly in a mini squat (Photo 1).
• Lift one foot off the ground/foam and tap the ground forward, sideways and backwards before returning to the starting position. Try to stay in the mini squat position while tapping (Photos 2, 3 and 4).
• Repeat with the other foot.

Try starting with 5 repetitions on each foot or as many as you can comfortably manage.

2. Standing heel rocks

• Start by standing upright with your feet flat on the ground and shoulder-width apart
• Rock your weight onto your heels and lift your toes up slightly.
• Try to maintain balance and rock back onto flat feet.
• Then raise your heels moving your weight forward onto your toes.

Perform this as a whole movement slowly and smoothly. Try starting with 10 repetitions or as many as you can comfortably manage.

HSP community member writes a book

Ted O’Hare, long-term HSP Foundation community member, said “with urging from my family and friends, I have written a book The View From My Wheelchair: An Irreverent View of My Life with a Progressive Neurological Condition that describes my journey with HSP and my transition to a fulltime wheelchair user. This is my take on how HSP has impacted me and my family but is a slightly humorous view of working, socialising, and how the public react to me in a wheelchair. I have enjoyed writing it and learned a lot about me and how others see me.

The book is available here.

Community member Ken Price had this to say about the book “the book is about the fact Ted has a disability which has him in a wheelchair. His approach is positive and he highlights that he has otherwise had a normal life – family, mortgage, career and now retirement. He writes from his perspective of things, from personal experiences. It is a good read with a balance of humour as well as being straight to the point. Ted acknowledges that he has experienced generosity and helpfulness from people he has come across. This is a good read.”

Even for those in wheelchairs

Adaptive climbing, also called paraclimbing, makes climbing accessible to people with any type of physical disability.  There are over 300,000 people climbing at indoor Sport Climbing gyms around the country.

Just four years ago, Victorian Sarah Larcombe embraced rock climbing for the first time.

The Australian paraclimbing champion — who has gone on to represent the country across the globe and win at World Cups — said it was something that she wished she had done sooner.

“Being up high on a climbing wall is the best feeling. It is so freeing,” Larcombe said.

“Climbing is actually the perfect adaptive sport. I really wish that I started climbing when I was younger. Read more and see video news clip.

Sarah does not have HSP, but Olivia Conforti, who represented the US at the Paraclimbing World Cup in May, does. In 2013 she discovered rock climbing after a friend suggested she give it a try, and she has been in love with it and has been excelling at it, ever since.

Read more.

Climbing as a fun form of physiotherapy

With its dizzying heights and gravity-defying physicality, the adventurous sport of rock climbing may seem ill-suited to people living with disability.

Propelled by a volunteer-run climbing group for people with disabilities, Adaptive Climbing Victoria (ACV) is a grassroots group founded in 2018 to help more people with disabilities experience rock climbing, both indoors and outdoors. The organisation’s mantra is that everyone, no matter their ability, can climb.

There are many ways to adapt the experience so that it fits your needs.  Individuals who experience paralysis – there’s climbing for you, too! Wheelchair ramps can be placed around the walls of most climbing gyms, enabling you to get to the top. Once there, adaptive equipment like a standing frame or harness will allow wheelchair users to rock climb without having their chair in the way! There are systems that allow climbing via pull-up that will have you to the top in no time.

If you know of other locations and resources for adaptive climbing, leave a comment with the information below.

SOURCES / REFERENCES: 

https://www.abc.net.au/news/2022-06-15/rock-paraclimbing-disability-adaptive-climbing-victoria/101152316

https://weareexplorers.co/becoming-an-adaptive-climber/

Adaptive Climbing Victoria

https://www.facebook.com/AbleclimbingNSW/

https://www.instagram.com/ableclimbingnsw/?hl=en

https://www.thepadclimbing.org/rock-climbing-for-the-disable-and-neurodivergent/

An individual reflection

We have touched on this topic previously but there is hardly a surplus of information available on the topic. Here are some personal thoughts and reflections about dating apps from the Chair of the UK HSP support group.

Adam Lawrence writes on his blog:

Here are a few thoughts on my initial encounters on dating apps.

When I first set my profile up I didn’t mention HSP or any of its effects directly, although I did mention that I am the chair of a rare disease charity. A few on-line conversations led to meeting up for a ‘real’ date. After those dates, however, two things happened – I was either ghosted, or the on-line conversations dried up pretty quickly.

Without any supporting evidence, I cannot tell if any of that is to do with my HSP and my ‘funny’ walk, or if there were some other reason for things not going any further with most of these people.

The conversation I had with the first person I met up with was interesting. They said that I ought to consider being more explicit about things on my profile. This gives people a chance to make up their minds without me having to make such an emotional investment – i.e. there isn’t any benefit to me in getting involved with anyone who is going to walk away awkwardly at the first signs of anything unusual.

It took a few months for this thought, and conversations with other people to result in me updating my profile. I chose to make two changes. In one change I went self-deprecating, and declared my walk to be like my sense of humour – both ‘a bit funny’. In the other change I chose to reveal my vulnerabilities, by saying that I’m nervous about becoming a disabled person of the future.

This change was good. Conversations have been better, and have not dried up after a first real date. I feel like I’m more able to be myself, and this reminds me that my HSP is only a relatively small part of me (even if it feels like it takes over my life from time to time).

(Readers may not know what ghosting is – it is abruptly ending communication with someone without explanation – Wikipedia says: https://en.wikipedia.org/wiki/Ghosting_(behavior))

SOURCE: A journey to HSP/FSP

http://hspjourney.blogspot.com/2023/06/reflections-on-dating-apps.html

Reflections on dating apps

Adam Lawrence, 17 June 2023