Body composition in adults with IMD
Research type
Research Study
Full title
Observational study to evaluate body composition in adults with Inherited Metabolic Disorders
IRAS ID
325507
Contact name
Elaine Murphy
Contact email
Sponsor organisation
University College London Hospital Trust
Clinicaltrials.gov Identifier
n/a, n/a
Duration of Study in the UK
5 years, 0 months, 1 days
Research summary
Inborn Errors of Metabolism (IEM) conditions involve genetic defects in enzymes or cofactors with in the complex metabolic pathways by which amino acids, carbohydrates and fatty acids are metabolised. Treatment therefore often involves lifelong dietary restrictions, often alongside supplementation with medical foods and supplements. At present there has been some studies looking at the growth and development of children with these conditions but very few studies have focused on adult patients with these conditions. Without this knowledge we are unable to determine how to best care for and manage these patients especially in view of improvements in treatments many patients will undergo the natural process of aging.
We hypothesize that due to the medicalised dietary management participants with IEM will have clinically significant differences in body composition measurements compared to normative data. We further hypothesize that Bioimpedance analysis (BIA) devices will be helpful tool to better monitor body composition in these patients.
We aim to describe the body composition by using Dual-energy X-ray absorptiometry (DEXA) scans and/or BIA combined with functional testing of participants from a variety of conditions. By looking at the data collected and comparing these results to normalised data we aim to describe body composition of patients with inborn errors of metabolism compared with the general population.
Inborn Errors of Metabolism conditions involve genetic defects in enzymes or cofactors with in the complex metabolic pathways by which amino acids, carbohydrates and fatty acids are metabolised. Treatment therefore often involves lifelong dietary restrictions, often alongside supplementation with medical foods and supplements (White et al, 2020). For example, a person with PKU will often have a diet consisting of are restricted protein intake, low protein prescription foods and phenylalanine free protein supplements for PKU. At present there has been some studies looking at the growth and development of children with these conditions but very few studies have focused on adult patients with these conditions (Wilcox et al 2005, Gugelmo et al,2022, Francini-Pesenti et al, 2020).
Basic measurements such as weight, height, body mass index (a measure commonly used to assess a person’s weight compared to their height) and weight change is included as part of standard care. However, this does not provide information about the effects of dietary restrictions on body composition (e.g., amount and the distribution of fat mass and muscle etc) which is well known to be a better predictor of health (Peterson & Braunschweig, 2016, Mraz & Haluzik, 2014, Francis et al, 2017, Kent et al, 2013). Without this knowledge we are unable to determine how to best care for and manage these patients especially in view of improvements in treatments many patients will undergo the natural process of aging.
We predict that due to potential alterations in metabolism and the use of medicalised dietary management, participants with IEM will have noticeable differences in body composition measurements compared to the general population. We further predict that the use of specific Bioelectrical impedance assessment devices (special scales that can be used to determine body fat mass and weight that is not body fat, such as weight from muscles or body organs etc.) will be a helpful tool to better monitor body composition in these patients.
We aim to describe the body composition by using Dual-energy X-ray absorptiometry scans (special medical devices often used to monitor bone density which can also be used to measure body fat mass and non-fat mass) and/or bioimpedance assessment devices (device discussed above) combined with functional testing of participants (such as the timed sit to stand test) from a variety of conditions. By examining the data collected and comparing these results to data from the general population (accounting for differences specific to gender, age, and ethnicity) we aim to describe body composition of patients with inborn errors of metabolism compared with the general population.
We intend to study more than 500 patients from a variety of conditions, making this the of the largest studies conducted looking at body composition in the inborn errors of metabolism population. This study also aims to include many conditions that have never been including in body composition making this inventive research. This study will inform add to the current gap in literature and help further research towards better management and monitoring of patients with inborn errors of metabolism.
REC name
North East - Newcastle & North Tyneside 2 Research Ethics Committee
REC reference
24/NE/0015
Date of REC Opinion
21 Feb 2024
REC opinion
Further Information Favourable Opinion