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. 2022 Mar 28;17(1):138.
doi: 10.1186/s13023-022-02287-9.

Qualitative interviews with adults with Classic Galactosemia and their caregivers: disease burden and challenges with daily living

Jason A Randall  1 , Carolyn Sutter  2 , Stella Wang  3 , Evan Bailey  3 , Lydia Raither  4 , Riccardo Perfetti  3 , Shoshana Shendelman  3 , Claire Burbridge  4
Affiliations

Qualitative interviews with adults with Classic Galactosemia and their caregivers: disease burden and challenges with daily living

Jason A Randall et al. Orphanet J Rare Dis. .

Abstract

Background: Classic Galactosemia is a rare, autosomal recessive disease in which galactose is not metabolized properly due to severe deficiency/absence of the galactose-1-phosphate uridylyltransferase (GALT) enzyme, converting to an aberrant and toxic metabolite, galactitol. Newborn screening and timely galactose-restricted diet can resolve acute symptoms and decrease fatalities. However, despite this, significant chronic, progressive morbidities remain which have a real impact upon daily life. To better understand the burden of disease, 20 in-depth qualitative interviews were undertaken with adult patients (n = 12), and their caregivers (n = 8), enrolled in the ACTION-Galactosemia trial, part of a clinical program designed to investigate the safety and efficacy of AT-007 (govorestat) in reducing toxic galactitol and long-term clinical outcomes in Classic Galactosemia.

Results: Interviews revealed the substantial burden of Classic Galactosemia on patients and families. Most adults were not able to live independently, and all required support with day-to-day activities. Short- and long-term memory difficulties and tremors were identified as the most frequently experienced and challenging symptoms. Other difficulties such as fine motor skills and slow/slurred speech contribute to the significant impact on daily activities, affecting ability to communicate and interact with others. Symptoms were first noticed in early childhood and worsened with age. Classic Galactosemia impacted all areas of daily functioning and quality of life, leading to social isolation, anxiety, anger/frustration and depression. This demonstrates the significant burden of disease and challenges associated with Classic Galactosemia.

Conclusions: The impact on both patients and caregivers underscores the severity of the unmet medical need and the importance of pharmacological intervention to halt or prevent disease progression. Any treatment that could reduce symptoms or slow functional decline would ease the burden of this condition on patients and caregivers.

Keywords: Burden of illness; Caregiver experience; Classic Galactosemia; GALT deficiency; HRQoL; Health-related quality of life; Patient experience; Qualitative interviews.

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Conflict of interest statement

Clinical Outcomes Solutions is a health research consultancy paid to conduct this research. Applied Therapeutics is a pharmaceutical company which funded this study.

Figures

Fig. 1
Fig. 1
Patient-led Conceptual model of Classic Galactosemia. Note Some caregivers also discussed how their child experienced jaundice as a newborn. As this is a sign that only occurs as a newborn, it has not been included in the conceptual model
Fig. 2
Fig. 2
Frequency graphs for Classic Galactosemia signs/symptoms. aThe percentage of participants who discussed women’s health-ovarian failure was calculated as a percentage of the number of female patients (n = 5) and caregivers of female patients (n = 4)
Fig. 3
Fig. 3
Frequency graphs for Classic Galactosemia impacts
See this image and copyright information in PMC

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