Natural history and biomarkers in autonomic disorders
Research type
Research Study
Full title
Natural history and biomarkers in autonomic disorders
IRAS ID
197553
Contact name
Valeria Iodice
Contact email
Sponsor organisation
University College London
Duration of Study in the UK
9 years, 11 months, 31 days
Research summary
Autonomic disorders affect the "automatic" functions of the body, such as the blood pressure, heart rate and sweating. These disorders include intermittent autonomic disorders such as Postural Tachycardia Syndrome (PoTS), Autonomic Mediated Syncope (AMS) and chronic autonomic failure disorders such as Parkinson's Disease (PD), Multiple System Atrophy (MSA) and Autonomic Failure (AF). In all these disorders, autonomic dysfunction significantly impacts the quality of life and causes significant morbidity and risk.
Cardiovascular autonomic dysfunction can sometimes pre-date the hallmark motor symptoms and signs in patients with chronic autonomic failure disorders, which leads to difficulty in differentiating these diseases.
Similarly patients with intermittent autonomic disorders such as AMS and PoTS, the most common forms of orthostatic intolerance (the inability to withstand the upright posture), are characterised by excessive increases in heart rate or transient blood pressure falls during prolonged standing. There are several different subgroups of PoTS and AMS patients that may result in subtle clinical differences and divergent responses to treatment. The underlying mechanism is uncertain and the diagnosis difficult in PoTS and AMS patients.
Recent skin studies have shown that the pathological involvement of peripheral sensory and autonomic nerve fibre might occur early in the disease course in these patients.
These findings raise the possibility that various indices of cardiovascular autonomic dysfunction and peripheral nerve fibre pathology using skin biopsy technique may be good markers for aiding with the early diagnosis of these conditions. We will systematically explore nerve fibre function by analyzing nerve fibres in skin punch biopsies, in these patients, in order to differentiate and characterise different patient subtypes.
Therefore, simultaneously evaluating cardiovascular autonomic function, peripheral sensory and autonomic nerve fibre morphology in these patient groups using a cross-sectional and longitudinal design may provide useful markers in better early diagnosis and provide further information on the progression of these disorders.
REC name
London - London Bridge Research Ethics Committee
REC reference
16/LO/1656
Date of REC Opinion
18 Oct 2016
REC opinion
Further Information Favourable Opinion