This week, Partnership Development Director at Porterhouse Medical, Mark Walker, will be attending WORLDSymposium 2025.
WORLD stands for We’re Organizing Research on Lysosomal Diseases and is an international research conference that attracts 1000s of participants from around the world, who meet to learn more about the latest discoveries related to lysosomal diseases and the clinical investigation of these advances.
Ahead of the event, in the spirit of awareness and information sharing, our article below is shining spotlight on the group of rare disorders, known as lysosomal storage disorders (LSDs).
Raising awareness of LSDs is crucial for several reasons: it aids early diagnosis and treatment of these rare genetic conditions to improve patient outcomes, drives medical advancements, supports families, and creates a more informed and compassionate society.
What are lysosomal storage disorders (LSDs)?
LSDs affect ~1 in 5,000–7,500 births worldwide [1] They are a diverse group of ~70 inherited, monogenic disorders that arise because of abnormalities in genes encoding lysosomal proteins. These proteins support the function of lysosomes, which play a key role in breaking down and recycling waste products within a cell. Lysosomal dysfunction caused by a deficiency in functional proteins can therefore result in the accumulation of these waste materials within the cell, leading to multi-organ dysfunction and premature death [2].
There is high variability in the clinical manifestation of lysosomal storage disorders. Many of these disorders typically present in early to late childhood; however, less severe forms may be diagnosed into adulthood [2]. Neurological manifestations are seen in ~70% of disorders, with congenital- or infantile-presenting neurological symptoms often associated with a more severe clinical course. Progressive neurodegeneration frequently leads to severe symptoms, such as cognitive impairment, motor decline and seizures. Other common symptoms include hepatomegaly, respiratory distress and skeletal dysplasia [1, 2]. The symptomatic and psychosocial effects of lysosomal storage disorders represent a large burden for patients and their caregivers, with many reporting a lower quality of life relative to unaffected individuals [3–5].
What treatments are currently available for lysosomal storage disorders?
Specific therapies have been developed for some lysosomal storage disorders, primarily targeting the metabolic impairment seen in these disorders to improve survival and quality of life [6, 7]. The most common treatments for lysosomal storage disorders are enzyme replacement therapies. However, many of these therapies have short half-lives and are unable to reach some tissues; therefore, many are not effective in treating neurological, skeletal and joint abnormalities [1, 7]. Although further research is needed, gene therapy represents a particularly promising avenue to overcome issues with crossing the blood–brain barrier and treating the neurological pathology of these disorders [7].
What unmet needs are there for people currently living with a lysosomal storage disorder?
According to patients, a key unmet need is reducing the time to diagnosis [8]. Delays in diagnosis of up to 5 years have been seen across different lysosomal storage disorders, with patients frequently reporting initial misdiagnosis. Additionally, patients, their caregivers and healthcare professionals have all reported that more coordinated management would be beneficial to reduce the burden of these disorders.
This includes more attentive psychosocial support, pain management, more comprehensive treatment monitoring and improved transitional support from paediatric to adult medicine as patients age [8, 9].
How does Porterhouse Medical support the rare disease community?
At Porterhouse Medical, we are passionate about the work that we do to improve patient outcomes and have many teams that are currently focused on rare diseases. We work with our global pharmaceutical partners on a variety of projects that aim to educate on rare diseases and increase communication between healthcare professionals working in the field. With extensive experience in rare metabolic diseases including Niemann Pick, MPS’s, Fabry, fatty oxidation disorders and Duchenne’s, we develop training materials, internal MSL decks, manuscripts, graphical abstracts, MOA videos and plain language summaries.
If you would like information on the insights research and healthcare communications services offered by the Porterhouse Medical team, please get in touch. We would love to hear from you! Contact: mark.walker@porterhousemedical.com.
References
- Sheth J, Nair A and Jee B. Lysosomal storage disorders: From biology to the clinic with reference to India. Lancet Reg Health Southeast Asia 2023; 9: 100108.
- Ellison S, Parker H and Bigger B.Advances in therapies for neurological lysosomal storage disorders. J Inherit Metab Dis 2023; 46 (5): 874–905.
- Remor E and Baldellou A. Health-related quality of life in children and adolescents living with Gaucher disease and their parents. Health Psychol Behav Med 2018; 6 (1): 79–92.
- Arends M, Hollak CEM and Biegstraaten M. Quality of life in patients with Fabry disease: A systematic review of the literature. Orphanet J Rare Dis 2015; 10: 77.
- Mengel E, Patterson MC, Chladek M et al. Impacts and burden of Niemann pick type-C: A patient and caregiver perspective. Orphanet J Rare Dis 2021; 16 (1): 493.
- Leal AF, Inci OK, Seyrantepe V et al. Molecular Trojan horses for treating lysosomal storage diseases. Mol Genet Metab 2023; 140 (3): 107648.
- Kido J, Sugawara K and Nakamura K. Gene therapy for lysosomal storage diseases: Current clinical trial prospects. Front Genet 2023; 14: 1064924.
- de Dios García-Díaz J, López-Rodríguez M, Morales-Conejo M, et al. Understanding the ecosystem of patients with lysosomal storage diseases in Spain: A qualitative research with patients and health care professionals. Orphanet J Rare Dis 2022; 17 (1): 17.
- Guffon N, Genevaz D, Lacombe D et al. Understanding the challenges, unmet needs, and expectations of mucopolysaccharidoses I, II and VI patients and their caregivers in France: A survey study. Orphanet J Rare Dis 2022; 17 (1): 448.