TAK-675-5003
Research type
Research Study
Full title
An observational, prospective, single-site study to describe the clinical presentation of patients with Fabry disease as measured digitally and remotely
IRAS ID
316661
Contact name
Ana Jovanovic
Contact email
Sponsor organisation
Takeda UK Limited
Clinicaltrials.gov Identifier
n/a, n/a
Duration of Study in the UK
1 years, 0 months, 24 days
Research summary
Fabry disease (FD) is an inheritance disease linked to chromosome X, secondary to mutations in the GLA gene. Its prevalence is estimated between 1:8,454 and 1:117,000 among males and is probably underdiagnosed. Mutations in the GLA gene lead to the progressive accumulation of a molecule in the body called globotriaosylceramide (Gb3). Gb3 accumulates in different types of cells of the heart, kidneys, skin, eyes, central nervous system, and gastrointestinal system, and may lead to different clinical scenarios. The onset of symptoms occurs during childhood, with acroparesthesia (burning, tingling, or pricking sensations in the extremities), heat intolerance, and gastrointestinal symptoms, such as nausea, vomiting, abdominal pain, and neuropathic pain. Subsequently, symptoms related to progressive impairment appear, such as angiokeratomas (hard bumps on skin), cornea verticillata (distinctive pattern in the eye), left ventricular hypertrophy (enlarged heart), myocardial fibrosis (deterioration of heart), proteinuria, and renal insufficiency (dysfunction in the kidney).
An understanding of the real-world, at home disease burden impact is relatively unknown. Digital tools such as medical grade wearable devices offer an opportunity to understand this more by taking patients measurements continually which can then be analysed remotely.
The main purpose of this study is to evaluate the use of remote digital monitoring of Fabry disease (FD) patients treated with either Enzyme Replacement Therapy (ERT) or oral therapy, as part of their routine clinical care, over 12 months, and to describe the digital phenotype (characteristics) of Fabry patients.REC name
East of England - Essex Research Ethics Committee
REC reference
23/EE/0100
Date of REC Opinion
13 Jun 2023
REC opinion
Further Information Favourable Opinion