HERE’S WHERE WE SPEND THE MONEY WE RAISE

The money we raise and spend, on clinical trials, equipment to improve quality of life and the funding of clinical staff in 5 childrens hospitals in Australia, is crucial to the betterment and advancement of the lives of those living with Duchenne.
Please help.

HERE’S WHERE WE SPEND THE MONEY WE RAISE

The money we raise and spend, on clinical trials, equipment to improve quality of life and the funding of clinical staff in 5 childrens hospitals in Australia, is crucial to the betterment and advancement of the lives of those living with Duchenne.
Please help.

SUMMIT THERAPEUTICS – UTROPHIN DRUG EZUTROMID

Save Our Sons is supporting research into ezutromid (formerly SMT C1100) – a promising treatment being developed by Summit Therapeutics in the UK. This drug is designed to increase levels of the protein called “utrophin” in the muscles, which may be able to substitute for the dystrophin protein that is missing in boys (and rare girls) with Duchenne.

Read More

SOLID BIOSCIENCES – MEMBRANE STABILISATION THERAPY

Save Our Sons has granted funds to Solid Biosciences – a company which focuses solely on finding treatments for Duchenne – to develop a treatment approach which aims to stabilise the membranes that surround muscles. This approach may be able to protect the muscles of boys (and rare girls) with Duchenne and improve their function.

Read More

SOLID BIOSCIENCES – GENE THERAPY

Gene therapy is one of the most promising approaches being developed for Duchenne and in late 2017 three separate clinical trials started in boys with Duchenne. It is hoped that the therapy will be long lasting, but then it is expected that further doses will be needed. However, currently gene therapy can only be given once because the body develops an immune response to it. Save Our Sons is funding two projects looking at ways to allow re-administration of gene therapy.

Read More

SUMMIT THERAPEUTICS – UTROPHIN DRUG EZUTROMID

Save Our Sons is supporting research into ezutromid (formerly SMT C1100) – a promising treatment being developed by Summit Therapeutics in the UK. This drug is designed to increase levels of the protein called “utrophin” in the muscles, which may be able to substitute for the dystrophin protein that is missing in boys (and rare girls) with Duchenne.

Read More

SOLID BIOSCIENCES – MEMBRANE STABILISATION THERAPY

Save Our Sons has granted funds to Solid Biosciences – a company which focuses solely on finding treatments for Duchenne – to develop a treatment approach which aims to stabilise the membranes that surround muscles. This approach may be able to protect the muscles of boys (and rare girls) with Duchenne and improve their function.

Read More

SOLID BIOSCIENCES – GENE THERAPY

Gene therapy is one of the most promising approaches being developed for Duchenne and in late 2017 three separate clinical trials started in boys with Duchenne. It is hoped that the therapy will be long lasting, but then it is expected that further doses will be needed. However, currently gene therapy can only be given once because the body develops an immune response to it. Save Our Sons is funding two projects looking at ways to allow re-administration of gene therapy.

Read More

PHRIXUS – CARMASEAL-MD

Save Our Sons is supporting research into Carmaseal-MD (also known as poloxamer 188)- a polymer that shows promise as a treatment for Duchenne due to its ability to stabilise muscle cell membranes.


In Duchenne, muscle cell membranes are fragile and tear easily, it is hoped that Carmaseal-MD will be able to seal these tears and protect the muscle. Preclinical research in animal models has shown that it may be particularly useful in protecting the heart and breathing muscles. Importantly, it could be used for all Duchenne patients no matter what their genetic mutation is.
This funding will go towards a small pilot trial in boys/young men with Duchenne to gather initial evidence of safety and effectiveness prior to starting a larger clinical trial.


The trial will involve 10 patients at Cincinnati Children’s Hospital who will inject Carmaseal-MD subcutaneously (under the skin) once per day for six months. The participants will be non-ambulatory; have early heart failure and impaired respiratory function. The study will gather further information on the safety of Carmaseal-MD and assessments of effectiveness will focus on heart, lung and upper limb function.

Read More
.

MILO BIOTECHNOLOGY – FOLLISTATIN GENE THERAPY

Milo’s gene therapy is based on a protein called ‘follistatin’ which has the ability to increase muscle strength and prevent muscle wasting and fibrosis (formation of scar tissue). Follistatin is naturally made by the body and this gene therapy aims to increase its production.

The therapy involves using a harmless virus called AAV to deliver the gene containing the instructions for the production of follistatin into the muscle cells.


After positive results were reported from a trial involving six men with Becker muscular dystrophy, funding was secured from the Duchenne Alliance to start another trial involving six boys with Duchenne in the USA.

Read More

UNIVERSITY OF LAVAL – OSTEOPROTEGERIN (OPG)

Save Our Sons Duchenne Foundation is funding research into a new potential treatment approach for Duchenne led by Dr Jerome Frenette, a world renowned scientist in Canada. The research centres around a protein called osteoprotegerin (OPG) which may be able to improve muscle function.


OPG is known to be important for bone health and drugs based on OPG, and molecules it interacts with, have already been developed and are currently used to treat osteoporosis (brittle bones).


Dr Frenette’s research group has recently found that treating mice with Duchenne with OPG improves muscle function. This research project will look at whether OPG alone or in combination with other drugs – glucocorticoids (already used to treat Duchenne) and beta agonists (used to treat asthma) – could be an effective therapy for Duchenne. As a bonus, OPG may be able to strengthen the bones which become brittle when taking steroids (glucocorticoids) and offset negative effects that beta agonists may have on the heart.

Read More

PHRIXUS – CARMASEAL-MD

Save Our Sons is supporting research into Carmaseal-MD (also known as poloxamer 188)- a polymer that shows promise as a treatment for Duchenne due to its ability to stabilise muscle cell membranes.


In Duchenne, muscle cell membranes are fragile and tear easily, it is hoped that Carmaseal-MD will be able to seal these tears and protect the muscle. Preclinical research in animal models has shown that it may be particularly useful in protecting the heart and breathing muscles. Importantly, it could be used for all Duchenne patients no matter what their genetic mutation is.
This funding will go towards a small pilot trial in boys/young men with Duchenne to gather initial evidence of safety and effectiveness prior to starting a larger clinical trial.


The trial will involve 10 patients at Cincinnati Children’s Hospital who will inject Carmaseal-MD subcutaneously (under the skin) once per day for six months. The participants will be non-ambulatory; have early heart failure and impaired respiratory function. The study will gather further information on the safety of Carmaseal-MD and assessments of effectiveness will focus on heart, lung and upper limb function.

Read More
.

MILO BIOTECHNOLOGY – FOLLISTATIN GENE THERAPY

Milo’s gene therapy is based on a protein called ‘follistatin’ which has the ability to increase muscle strength and prevent muscle wasting and fibrosis (formation of scar tissue). Follistatin is naturally made by the body and this gene therapy aims to increase its production.

The therapy involves using a harmless virus called AAV to deliver the gene containing the instructions for the production of follistatin into the muscle cells.


After positive results were reported from a trial involving six men with Becker muscular dystrophy, funding was secured from the Duchenne Alliance to start another trial involving six boys with Duchenne in the USA.

Read More

UNIVERSITY OF LAVAL – OSTEOPROTEGERIN (OPG)

Save Our Sons Duchenne Foundation is funding research into a new potential treatment approach for Duchenne led by Dr Jerome Frenette, a world renowned scientist in Canada. The research centres around a protein called osteoprotegerin (OPG) which may be able to improve muscle function.


OPG is known to be important for bone health and drugs based on OPG, and molecules it interacts with, have already been developed and are currently used to treat osteoporosis (brittle bones).


Dr Frenette’s research group has recently found that treating mice with Duchenne with OPG improves muscle function. This research project will look at whether OPG alone or in combination with other drugs – glucocorticoids (already used to treat Duchenne) and beta agonists (used to treat asthma) – could be an effective therapy for Duchenne. As a bonus, OPG may be able to strengthen the bones which become brittle when taking steroids (glucocorticoids) and offset negative effects that beta agonists may have on the heart.

Read More

AKASHI – HT-100

Save Our Sons granted funding to Akashi Therapeutics for a clinical trial of HT-100 – a powerful anti-inflammatory and anti-fibrotic.

HT-100 is a substance taken orally that is designed to reduce fibrosis (formation of scar tissue) and inflammation and promote healthy muscle fibre regeneration. A phase 1b/2a clinical trial of HT-100 was started in 2013 in five hospitals in the USA.

Read More

MONASH UNIVERSITY – NUTRACEUTICAL SUPPLEMENTS

Supportive therapies are an essential component of optimal care for boys with Duchenne. This clinical trial explores the potential of targeted nutritional therapies to enhance walking ability for boys with Duchenne.

This study, led by Dr Zoe Davidson and Professor Helen Truby at Monash University in Melbourne, is the first large scale trial in the world to investigate the use of multiple nutritional supplements in boys with Duchenne.

Read More

REVERAGEN – VAMOLORONE (VBP15)

Save Our Sons Duchenne Foundation has been supporting ReveraGen’s development of vamorolone (previously known as VBP15) since 2009. This drug is a potential replacement for the corticosteroids that are commonly prescribed for Duchenne in the hope of maintaining muscle strength for longer. However, the steroids (such as prednisolone) come with a long list of worrying side effects such as stunting of growth, mood changes, weight gain, brittle bones and hormonal problems.

Read More

AKASHI – HT-100

Save Our Sons granted funding to Akashi Therapeutics for a clinical trial of HT-100 – a powerful anti-inflammatory and anti-fibrotic.

HT-100 is a substance taken orally that is designed to reduce fibrosis (formation of scar tissue) and inflammation and promote healthy muscle fibre regeneration. A phase 1b/2a clinical trial of HT-100 was started in 2013 in five hospitals in the USA.

Read More

MONASH UNIVERSITY – NUTRACEUTICAL SUPPLEMENTS

Supportive therapies are an essential component of optimal care for boys with Duchenne. This clinical trial explores the potential of targeted nutritional therapies to enhance walking ability for boys with Duchenne.

This study, led by Dr Zoe Davidson and Professor Helen Truby at Monash University in Melbourne, is the first large scale trial in the world to investigate the use of multiple nutritional supplements in boys with Duchenne.

Read More

REVERAGEN – VAMOLORONE (VBP15)

Save Our Sons Duchenne Foundation has been supporting ReveraGen’s development of vamorolone (previously known as VBP15) since 2009. This drug is a potential replacement for the corticosteroids that are commonly prescribed for Duchenne in the hope of maintaining muscle strength for longer. However, the steroids (such as prednisolone) come with a long list of worrying side effects such as stunting of growth, mood changes, weight gain, brittle bones and hormonal problems.

Read More

STANDING WHEELCHAIRS

Save Our Sons Duchenne Foundation is investing over $100 000 into a ground-breaking project to explore the benefits of standing wheelchairs for those with Duchenne. The project aims to provide evidence that can be used to justify funding this expensive equipment for all boys (and rare girls) with Duchenne.


Perth-based researcher Dr Jenny Downs is leading this study that will be conducted at Curtin University, Telethon Kids Institute and Princess Margaret Hospital for Children.


Seven boys with Duchenne from across Australia aged from nine and through the teenage years (and their parents and teachers) are currently taking part in the study, with more set to become involved the near future.

STANDING WHEELCHAIRS

Save Our Sons Duchenne Foundation is investing over $100 000 into a ground-breaking project to explore the benefits of standing wheelchairs for those with Duchenne. The project aims to provide evidence that can be used to justify funding this expensive equipment for all boys (and rare girls) with Duchenne.


Perth-based researcher Dr Jenny Downs is leading this study that will be conducted at Curtin University, Telethon Kids Institute and Princess Margaret Hospital for Children.


Seven boys with Duchenne from across Australia aged from nine and through the teenage years (and their parents and teachers) are currently taking part in the study, with more set to become involved the near future.

WHAT IS A STANDING WHEELCHAIR?

A Powered Wheelchair Standing Device (PWSD) has been recently developed to allow standing within the electric wheelchair structure. At the push of a button, the wheelchair user is able to achieve the standing position and move forward whilst upright. The wheelchair being used in this study is the Levo C3 and Save Our Sons is providing the funding to purchase the chairs.

WHAT COULD THE BENEFITS OF A STANDING WHEELCHAIR BE?

Although no formal research has yet been published on the use of this type of wheelchair for Duchenne, it is anticipated that the use of a standing wheelchair will have a range of benefits, both physical and psychological.

Weight bearing through the lower limbs by standing in a standing frame is recommended as best practice care for those with Duchenne. The current recommendation is for 30 to 45 minutes of standing daily. Anecdotal evidence and studies into other conditions such as spinal cord injury and cerebal palsy indicate that this has a range of benefits. However, standing in a standing frame can be limited by the burden of transfers from wheelchair to the standing frame, especially as children get heavier. The use of a standing wheelchair could overcome this difficulty and increase the amount of time spent standing.

Physical benefits of standing wheelchairs could include:
Improved bladder and bowel function
Improved respiratory function, healthier bones and reduced curvature of the spine
Improved skin integrity and reduced pressure sores
Reduced contractures

Standing wheelchairs give users the freedom to move easily from sitting to standing and be at eye level with their peers. This is thought to offer psychological benefits and allow greater participation in activities. Enhanced participation in social, educational and recreational activities with family and friends could have a large impact on mental health and quality of life.

WHAT IS A STANDING WHEELCHAIR?

A Powered Wheelchair Standing Device (PWSD) has been recently developed to allow standing within the electric wheelchair structure. At the push of a button, the wheelchair user is able to achieve the standing position and move forward whilst upright. The wheelchair being used in this study is the Levo C3 and Save Our Sons is providing the funding to purchase the chairs.

WHAT COULD THE BENEFITS OF A STANDING WHEELCHAIR BE?

Although no formal research has yet been published on the use of this type of wheelchair for Duchenne, it is anticipated that the use of a standing wheelchair will have a range of benefits, both physical and psychological.

Weight bearing through the lower limbs by standing in a standing frame is recommended as best practice care for those with Duchenne. The current recommendation is for 30 to 45 minutes of standing daily. Anecdotal evidence and studies into other conditions such as spinal cord injury and cerebal palsy indicate that this has a range of benefits. However, standing in a standing frame can be limited by the burden of transfers from wheelchair to the standing frame, especially as children get heavier. The use of a standing wheelchair could overcome this difficulty and increase the amount of time spent standing.

Physical benefits of standing wheelchairs could include:
Improved bladder and bowel function
Improved respiratory function, healthier bones and reduced curvature of the spine
Improved skin integrity and reduced pressure sores
Reduced contractures

Standing wheelchairs give users the freedom to move easily from sitting to standing and be at eye level with their peers. This is thought to offer psychological benefits and allow greater participation in activities. Enhanced participation in social, educational and recreational activities with family and friends could have a large impact on mental health and quality of life.

WHAT WILL HAPPEN DURING THE STUDY?

During the study, the standing wheelchair will be used for at least 60 minutes daily for six months. A wide range of assessments will be done during this time, including:

Bowel and bladder function: a daily diary will be kept of bowel habits and bladder accidents. A physiotherapist will also assess bladder function in sitting and standing positions during a home visit.
Breathing: respiratory muscle strength and lung volumes will be measured by respiratory technicians
Bone health: data from routine scans will be used to measure any impact on bone density
Musculoskeletal measures: joint position and foot pressure will be measured in the Motion Analysis Laboratory at Curtin University
Psychological outcomes: questionnaires and face-to-face interviews will be used to assess mental wellbeing, participation in activities and quality of life and explore experiences and concerns in relation to standing wheelchair use. Parents and teachers will also be interviewed.
Adverse events: the child will be asked every evening if he experienced pain, dizziness or nausea when standing in the wheelchair over the course of the day.

WHAT WILL HAPPEN DURING THE STUDY?

During the study, the standing wheelchair will be used for at least 60 minutes daily for six months. A wide range of assessments will be done during this time, including:

Bowel and bladder function: a daily diary will be kept of bowel habits and bladder accidents. A physiotherapist will also assess bladder function in sitting and standing positions during a home visit.
Breathing: respiratory muscle strength and lung volumes will be measured by respiratory technicians
Bone health: data from routine scans will be used to measure any impact on bone density
Musculoskeletal measures: joint position and foot pressure will be measured in the Motion Analysis Laboratory at Curtin University
Psychological outcomes: questionnaires and face-to-face interviews will be used to assess mental wellbeing, participation in activities and quality of life and explore experiences and concerns in relation to standing wheelchair use. Parents and teachers will also be interviewed.
Adverse events: the child will be asked every evening if he experienced pain, dizziness or nausea when standing in the wheelchair over the course of the day.

HOW COULD THE OUTCOMES OF THIS RESEARCH BENEFIT THOSE WITH DUCHENNE?

Preliminary results so far have been positive with regard to psychosocial benefits as reported by the children, their parents and teachers. The study will continue to measure the impact of standing wheelchair use on physical and mental health in a larger number of participants. If the benefits can be clearly demonstrated, then this evidence will be valuable in justifying the funding of this type of wheelchair.

HOW COULD THE OUTCOMES OF THIS RESEARCH BENEFIT THOSE WITH DUCHENNE?

Preliminary results so far have been positive with regard to psychosocial benefits as reported by the children, their parents and teachers. The study will continue to measure the impact of standing wheelchair use on physical and mental health in a larger number of participants. If the benefits can be clearly demonstrated, then this evidence will be valuable in justifying the funding of this type of wheelchair.