Investigating natural history of X-Linked hypophosphataemic rickets
Research type
Research Study
Full title
Investigating the natural history of X-linked hypophosphataemic rickets: cohort based study.
IRAS ID
279895
Contact name
Robin Lachmann
Contact email
Sponsor organisation
University College London Hospital NHS Foundation trust
Duration of Study in the UK
0 years, 5 months, 1 days
Research summary
Hypophosphataemic rickets is a heterogeneous group of inherited disorders characterised by hypophosphatemia and impaired bone mineralisation leading to rickets. X-linked hypophosphatemia (XLH), the most common heritable form of rickets or osteomalacia. The study will be carried out at a single centre based at Charles Dent metabolic unit at University college Hospital, London.Our cohort is going to be all adults aged 18 and over with a diagnosis of XLH and will include reviewing both retrospective data and prospective collection of information (clinical, biochemical, imaging, patient related outcomes).
Subjects enrolled in this natural history study will be thoroughly examined for signs and symptoms of X-linked hypophosphataemia. Prospective data including physical examination, laboratory testing, imaging studies, and patient reported outcomes will be performed during a single consultation. Follow-up usually occurs every 6 months at a minimum, as per the standard of care at our institution and we will carry out the aforementioned evaluation during this routine visit. No change in the patients' routine therapy is dictated by this protocol. No randomisation will be performed.The study will be undertaken over a period of 1 year.
Serious Adverse Events potentially related to a procedure specifically requested (if any) by this natural history study will need to be reported to the Sponsor. However, all non-serious adverse events will be recorded in the natural history (observational) study CRF database. We aim to fully understand the natural history of X-linked hyophosphataemic rickets (XLH) in order to ultimately assess the value of novel agents in potentially ameliorating the chronic phenotype of the condition.REC name
Yorkshire & The Humber - Bradford Leeds Research Ethics Committee
REC reference
21/YH/0017
Date of REC Opinion
11 Feb 2021
REC opinion
Further Information Favourable Opinion