Status: Closed to recruitment. In analysis.
Background
Hereditary spastic paraplegias (HSPs) are a group of rare, genetic movement disorders that share the clinical hallmark of slowly progressive lower limb spasticity and weakness due to degeneration of motor neurones. In complicated forms of HSP, patients can have a broad range of additional features, including cognitive impairment, seizures, peripheral neuropathy and more, which often overlap with other rare diseases.
Due to the rarity of HSP, ataxia and related conditions, the lack of knowledge about these conditions can impede diagnosis, counselling and development of treatments.
Objectives
This study is an international collaboration led by the University of Tübingen, Germany. The aim of this study is to better understand the clinical appearance and course of HSP, ataxia and related conditions (called a ‘Natural History Study’).
Due to the rarity of these conditions, we believe it is important that the data and biomaterials (e.g. blood) collected in this study are stored centrally in one place and beyond the end of the study (in the HSP/Autosomal-Recessive Cerebellar Ataxias (ARCA) Registry, and the Treat HSP/ARCA Biobank). This means that anonymised data and samples can be made available to other scientists for further studies upon request, to have as much impact as possible for research into HSP, ataxia and related conditions.
Research aims:
• To investigate the genetic basis and clinical appearance of HSPs, ataxia and related conditions.
• To develop methods to improve the diagnosis and predict the course of these conditions.
• To improve measures of response to treatments in clinical trials.
Who can take part?
- Individuals diagnosed with Hereditary Spastic Paraplegia (HSP), ataxia or a related condition (particularly SPG7 / ARSAC mutations)
- Relatives (parents/siblings) of affected individuals
- Healthy volunteers
- Aged 7 years old and above
What is involved?
We will ask participants to attend three visits at Addenbrooke’s Hospital in Cambridge over two years.
Mandatory examinations
We will collect and evaluate data from routine treatment which includes medical history, clinical examination findings, genetic data and results, imaging (e.g. MRI images), and cognitive assessments.
Optional examinations
Participants will be asked to take part in additional study-related examinations. This may include providing blood, urine or skin samples, measuring nerve responses, assessment of vision and eye imaging, and completing questionnaires about their quality of life. We will also request access to any left-over stored tissue samples from past/future procedures performed as part of their routine care.