Rare Disease Day 2024: A spotlight on lysosomal storage disorders

Rare disease day 2024


What is Rare Disease Day?

Rare Disease Day represents the global movement aiming to improve equity in healthcare, social opportunity, and diagnostic and therapeutic access for the estimated 300 million people living with a rare disease worldwide [1].

Celebrated on the last day of February each year (the rarest day for leap years, such as 2024!), Rare Disease Day represents a patient-led effort that is coordinated by an alliance of patient organisations and individuals active in the field of rare diseases. This alliance empowers and advocates for people living with a rare disease, by promoting improvements across diagnosis, research, holistic care and treatment [2]. Rare Disease Day also plays a critical role in highlighting and uniting people living with rare diseases worldwide, to provide the support and community that their disease’s rarity may otherwise deny them [1].

In the spirit of awareness and information sharing, this year Porterhouse Medical has chosen to spotlight a group of rare disorders that are collectively known as lysosomal storage disorders.

What are lysosomal storage disorders?

Lysosomal storage disorders affect ~1 in 5,000–7,500 births worldwide, with a higher incidence in certain populations, such as Ashkenazi Jews [3]. This diverse group of ~70 inherited, monogenic disorders arises 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 [4].

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 [4]. 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 [3, 4]. 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 [5–7].

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 [8, 9]. 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 [4, 9]. 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 [9].

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 [10]. 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 [10, 11].

How can I help?

Whether you are an individual living with a rare disease, a group or company working in the field, or you simply wish to stand in solidarity with the rare disease community, there are plenty of ways to get involved with Rare Disease Day this year. At www.rarediseaseday.org, you can find local events, a platform to share your story, and plenty of educational and social media–based resources to raise awareness and help support change for people living with a rare disease [1].

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.

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! Please contact mark.walker@porterhousemedical.com.

Rare disease day 2024



  1. Rare Disease Day. Available at: https://www.rarediseaseday.org/. Accessed February 2024.
  2. EURORDIS – Rare Diseases Europe. Available at: https://www.eurordis.org/. Accessed February 2024.
  3. 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.
  4. Ellison S, Parker H and Bigger B. Advances in therapies for neurological lysosomal storage disorders. J Inherit Metab Dis 2023; 46 (5): 874–905.
  5. 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.
  6. 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.
  7. 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.
  8. Leal AF, Inci OK, Seyrantepe V et al. Molecular Trojan horses for treating lysosomal storage diseases. Mol Genet Metab 2023; 140 (3): 107648.
  9. Kido J, Sugawara K and Nakamura K. Gene therapy for lysosomal storage diseases: Current clinical trial prospects. Front Genet 2023; 14: 1064924.
  10. 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.
  11. 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.

Author: Emily Morton |Senior Medical Writer| Porterhouse Medical