HSP Research Foundation
Welcome to the HSP Research Foundation – created in 2005 to find an effective treatment for Hereditary Spastic Paraplegia (HSP) – an inherited, degenerative disease affecting mainly the legs, causing spasticity, muscle weakness and severely impairing walking.
The HSP Research Foundation is an incorporated, registered Australian charity that facilitates and funds research to find an effective treatment. The Foundation is also the community hub for HSPers in Australia, creating awareness and providing information, education and support.
Mitochondrial impairment studied in SPG15 & 48 HSP
Function restored with treatment in lab experiments
SPG10 HSP gene now linked with Motor Neurone Disease
Previously linked to Charcot Marie Tooth
New HSP gene ACO2 discovered
Associated with recessive complicated HSP
Mechanism of AP-4 related HSPs investigated
AP-4 deficiency underlies four types of HSP
SPAST mutation affects adjacent gene
Combined effect causes complicated HSP
EPT1 mutation causes complicated HSP
Affects myelin sheath that covers nerves
Parkinsonism found in SPG7 HSP
Responsive to levodopa treatment
Ataxia-spasticity spectrum disorders
Limitations in classification and diagnosis
New HSP genotypes and phenotypes
Research from France, Canada, Turkey, Germany, Norway, Spain, Italy, South Korea, India and the USA
Living with a rare disease
New thinking, new ideas
Comparing intrathecal vs oral baclofen
Evaluating intrathecal delivery system
‘Living with the Enemy’
Coping with the stress of a chronic condition
New genotype – phenotype correlations found in paediatric HSP
Warning on imitations of current methodologies
Voice problem found in case of SPG7 HSP
Effective treatment available
Genetics company promotes rare disease registries
Connecting with research, clinical trials management
HSP clinical trial program update June 20182
Progress in preclinical studies
Gallery for artists with rare disease
Online art contest now open!
NDIS update June 2018
Widespread concerns are mounting up
Disability in the Arts
Kate Hood gives keynote address at international conference
Izzy Wheels
Stylish covers for wheelchair wheels
Tips for getting the most out of the website
‘Search’ function the key
This space is for you to have your say. Email us
Winter 2018 edition of the website published 1 June
Spring 2018 edition to be published early September
Speech difficulties with HSP5
Has anyone been to a speech pathologist?
Telling children about HSP6
If, when and how?
Medical cannabis20
Anyone tried it for HSP?
Australian of the Year 2017
Alan Mackay-Sim
Head of the HSP Research Program, Prof Alan Mackay-Sim was named Australian of the Year for 2017 by the Prime Minister in an awards ceremony at Parliament House in Canberra in late January
Fundraising for HSP Research
Pre-clinical investigations leading into clinical trials are now the focus of the HSP Research Program. The aim is to find out if the drug treatment effective with HSP stem cells is effective with HSPers themselves. There are technical, medical, ethical, regulatory, logistical, legal, financial and organisational aspects to consider. Biomarker studies to find a measure for HSP are underway as is a drug dose modelling study. Consistent funding support helps attract outside funding. We need to reach $120,000 again in 2018. An effective treatment for HSP is now within reach!
