Insight Reports
Translating research into meaningful impact.
We work with researchers and partners to communicate findings in ways that matter to our community. From conference presentations and posters to peer-reviewed publications, lay summaries and targeted newsletters for both community members and healthcare professionals, we ensure research outcomes are accessible, transparent and impactful. As a patient organisation, we bring authenticity and reach to every communication.
Explore this page to access our insight reports and conference posters:
Assessing the Need for a National Patient Organisation for Inherited Metabolic Disorders in Sri Lanka: Findings from a Community Survey
Inherited metabolic disorders (IMDs) are rare, lifelong conditions requiring coordinated specialist care and sustained psychosocial support. In Sri Lanka, there has historically been no dedicated patient organisation for individuals and families affected by IMDs, contributing to fragmented support and unmet psychosocial and practical needs.
Metabolic Support Sri Lanka (MSSL) was established as a collaborative initiative between Metabolic Support and the Rare Disease Forum of Sri Lanka (RDFSL) to strengthen care, diagnosis, and community support nationally. A community survey was conducted to inform its strategic priorities.
Visit the link below to view our research poster which summarises the results of this study:
Characterizing Behavioral Manifestations in Classical Homocystinuria Using Patient-Reported Data
Classical homocystinuria (HCU) is a rare inherited metabolic disorder that primarily causes systemic complications, yet affected individuals frequently face significant behavioural and neuropsychiatric challenges—such as anxiety, mood disturbances, and cognitive difficulties—that heavily impact quality of life. Because these real-world symptoms can easily be underrecognised in routine clinical settings, capturing direct patient experiences is essential to understanding the full scope of the condition.
In partnership with HCU Network America, Metabolic Support UK, and CanPKU+, this study utilised patient-reported data from the RARE-X platform to characterise the prevalence and nature of behavioural manifestations in classical homocystinuria. The findings highlight that over half of respondents experience behavioural or mental health symptoms, underscoring the vital need for routine behavioural monitoring alongside traditional metabolic management.
Click the button below for the full poster:
Lived Experience: Insights into Familial Chylomicronaemia Syndrome
Familial Chylomicronaemia Syndrome (FCS) is an ultra-rare genetic disorder that severely limits the body’s ability to break down fats, leaving individuals at constant risk of life-threatening acute pancreatitis alongside persistent physical, cognitive, and mental health challenges
Despite following extreme fat-restricted diets, people living with FCS continue to navigate high treatment burdens, daily anxiety, and a reduced quality of life, while carers face substantial impacts on their own careers and well-being
This study aimed to capture the authentic, lived experiences of the FCS community, gathering vital data on day-to-day burdens, the limitations of current treatments like Volanesorsen, and patient perspectives on emerging therapies such as Olezarsen and Plozasiran
Think Ammonia: The Survey
Hyperammonaemia is a time sensitive medical emergency for individuals living with inherited metabolic disorders (IMDs). Reports dating back several years show that patients have experienced disability or even death due to hyperammonaemia not being recognised, tested, and treated rapidly.
To inform the Metabolic Support “Think Ammonia!” campaign, this study surveyed patients and parents/carers across eight IMDs to understand our community’s lived experience of hyperammonaemia. The findings reveal widespread challenges, including 92% reporting inadequate staff awareness of hyperammonaemia signs, significant testing delays, and 65% experiencing long-term physical effects (predominantly neurological) due to delayed recognition. These results highlight the urgent need to improve staff education, testing processes, and treatment urgency to better outcomes for hyperammonaemia.
Click the button below for the full poster:
Defining the inherited metabolic disorder landscape in numbers using structured databases: proportion and mortality across the EU-5
Inherited metabolic disorders (IMDs) are individually rare, which can make it challenging to get the IMD voice heard across diagnosis, care, and policy. However, collectively they represent a substantial and under-characterised group of conditions.
Despite their number, the overall scale and impact of IMDs within the rare disease landscape, theirburden on healthcare systems and their overall mortality rate remain unclear.
This study aimed to quantify IMDs as a whole: specifically, the proportion of rare diseases that are IMDs and to estimate mortality attributable to IMDs across EU-5 countries. The poster below summarises the results of this study:
Research Release: The Lived Experience of Thymidine Kinase 2 deficiency
We are pleased to share the findings of our latest research “The Lived Experience of Thymidine Kinase 2 deficiency”.
In this report, we share important findings from a survey conducted among the Thymidine Kinase 2 deficiency (TK2-d) community, to better understand their lived experience of the condition and to build the evidence base.
Research Release: Lived Experience of Long Chain Fatty Acid Oxidation Disorders
We are pleased to share the findings of our latest research “The Lived Experience of Long Chain Fatty Acid Oxidation Disorders”.
In this report, we share important findings from a survey conducted among the Long Chain Fatty Acid Oxidation Disorders(LC-FAOD) community, to better understand their lived experience of the condition and to build the evidence base.
Research Release: The Lived Experience of Molybdenum Cofactor Deficiency Type A
We are pleased to share the findings of our latest research “The Lived Experience of Molybdenum Cofactor Deficiency Type A”.
In this report, we share important findings from a survey conducted among the molybdenum cofactor deficiency (MoCD) type A community, to better understand their lived experience of the condition and to increase the evidence base.
Research Release: The Lived Experience of Arginase-1 Deficiency
We are pleased to share the findings of our latest research “The Lived Experience of Arginase 1 Deficiency”.
In this report, we share important findings from a survey conducted among the arginase 1 deficiency (ARG1-D) community, to better understand their lived experience of the condition and to build the evidence base.
Research Release: The Impact of Cysteamine Treatments on Life with Cystinosis
We are happy to announce the results of our latest research, “The Impact of Different Cysteamine Formulations on the Lives of People Living with Cystinosis.”
This research announces important findings from a survey conducted in collaboration with Cystinosis Foundation UK and Kidney Research UK, aiming to better understand the day-to-day experiences of those living with cystinosis, as well as their parents and caregivers.
Understanding Patient & Carers Experiences with Primary hyperoxaluria type 1 (PH1) and Lumasiran
This insight report provides unparalleled insight into the lives of people living with Primary hyperoxaluria type 1 (PH1) and their experience of Lumasiran.
Understanding Patient & Carers Experiences with Hypophosphatasia & Strensiq
This insight report provides insight into the lives of people living with Hypophosphatasia and discusses people’s experience with Strensiq, a medication utilised to treat the condtion.
