INTRODUCING

Rare diseases

Gaucher disease is a rare, inherited metabolic disorder and is classified as a type of lysosomal storage disease known as sphingolipidosis.

What are the challenges associated with rare diseases?

There are fundamental challenges associated with rare diseases compared with common diseases, especially in terms of diagnosis.¹ As outlined by the Global Commission to End the Diagnostic Odyssey for Children with a Rare Disease (https://www.globalrarediseasecommission.com), patients with a rare disease may visit multiple physicians and specialists only to receive several misdiagnoses. Challenges to diagnosing rare diseases include: lack of information and awareness about rare diseases; minimal physician training on rare diseases; seemingly unrelated disease symptoms; limited access to diagnostic tools; lack of standardised criteria for diagnosis; shortage of geneticists; complex healthcare systems; and poor communication among healthcare providers.² The small patient numbers, problems in reaching patients who are widely dispersed across the world, a lack of validated biomarkers or surrogate endpoints, and limited clinical expertise and expert centres may also all present significant barriers to diagnosing rare diseases.¹ Moreover, the definition of a rare disease varies between countries (Figure 1).

RARE DISEASE DEFINITIONS

EUROPEAN UNION

The European Commission defines a rare disease as one that affects no more than 1 individual in 2000.³ In the European Union, rare diseases affect 6‒8% of the total population (around 27‒36 million people). Most rare diseases (80%) are of genetic origin; others may be degenerative or proliferative.⁴

UNITED STATES

The United States Orphan Drug Act defines a rare disease or orphan disease as a condition that affects fewer than 200,000 individuals in the United States. It is estimated that between 25‒30 million Americans live with a rare disease.⁵

JAPAN

Rare diseases in Japan, known as “rare and intractable diseases”, are defined as diseases with unknown aetiology with no effective treatment that present a major financial and psychological burden. Rare diseases in Japan are defined as affecting fewer than 50,000 patients in total in the country.⁶

AUSTRALIA

In Australia, orphan drugs are indicated as treatments for the prevention or diagnosis of a life-threatening or seriously debilitating condition. The prevalence threshold for orphan drug eligibility criteria is treatment of a condition that affects fewer than 5 in 10,000 (or 1 in 2000) individuals.⁷

Figure 1.
What is the definition of a rare disease?

In general, there is a lack of scientific and medical knowledge surrounding rare diseases.⁴ For many rare diseases, basic knowledge about the cause of the disease and its pathophysiology, natural course and epidemiology, is either limited or not available. This lack of information leads to difficulties in the diagnosis and treatment of rare diseases. As patients may be located throughout the world, medical experts in these diseases may be scarce in specific geographical areas.¹ However, researchers have made progress in learning how to diagnose, treat and prevent rare diseases, and the number of scientific publications regarding rare diseases is increasing.^4,5

C-ANPROM/INT//7566; Date of preparation: September 2020

World Health Organization. Rare diseases (In: Priority Medicines for Europe and the World Update Report, 2013). Available at: https://www.who.int/medicines/areas/priority_medicines/Ch6_19Rare.pdf. Accessed September 2020.
Global Commission to End the Diagnostic Odyssey for Children with a Rare Disease. Global Commission Year One Report. Available at: https://www.globalrarediseasecommission.com/Report/. Accessed September 2020.
European Commission. EU research on rare diseases. Available at: https://ec.europa.eu/info/research-and-innovation/research-area/health-research-and-innovation/rare-diseases_en. Accessed September 2020.
European Medicines Agency. Orphan designation: overview. Available at: https://www.ema.europa.eu/en/human-regulatory/overview/orphan-designation-overview. Accessed September 2020.
National Center for Advancing Translational Sciences. FAQs about rare diseases. Available at: https://rarediseases.info.nih.gov/diseases/pages/31/faqs-about-rare-diseases. Accessed September 2020.
Song P, Gao J, Inagaki Y, et al. Rare diseases, orphan drugs, and their regulation in Asia: current status and future perspectives. Intractable Rare Dis Res 2012; 1: 3-9.
Australian Government Department of Health, Therapeutic Goods Administration. Orphan drug designation eligibility criteria. Available at: https://www.tga.gov.au/sites/default/files/orphan-drug-designation-eligibility-criteria.pdf. Accessed September 2020.

Introducing

Steps towards a brighter future for patients with Gaucher disease

An interactive video experience

DIFFERENTIAL DIAGNOSIS

Getting the diagnosis right in children & adolescents

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Interactive case study

Gaucher disease & multiple myeloma

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Interactive case study

Gaucher disease & Parkinson's disease

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Interactive case study

Getting the diagnosis right in adults

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Events

WORLDSymposium^TM 2022 congress reports

The WORLDSymposium™ was held as a hybrid meeting this year (7–11 February 2022) and brought together key opinion leaders from the field of lysosomal disorders and rare diseases.

Brochure

Diagnosing Gaucher disease

Early diagnosis is essential in implementing the appropriate patient assessment and management plans as soon as possible.

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Brochure

Diagnosing Gaucher disease in siblings

Early diagnosis can reduce the likelihood of irreversible organ damage and serious complications, as well as chronic pain and disabling symptoms. Genetic counselling and carrier testing can help to achieve this.

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Infographic

Gene therapy

New treatment modalities are currently being researched for Gaucher disease. The feasibility of gene therapy for Gaucher disease is currently under investigation.

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Events

WORLDSymposium^TM 2021 congress reports

The WORLDSymposium^TM was held as a virtual meeting this year (7–12 February 2021) and brought together key opinion leaders from the field of lysosomal disorders and rare diseases.

Events

The 14th European Working Group on Gaucher Disease (EWGGD) congress reports

The EWGGD was held as a virtual meeting for 2020 (12–13 October 2020) and covered key topics in the field of Gaucher disease.

BURDEN OF DISEASE

Lysosomal storage diseases

What are lysosomal storage diseases?

Lysosomal storage diseases are inherited metabolic disorders caused by defects in the gene that encodes lysosomal enzymes, leading to enzyme deficiency. There are 70 monogenic disorders of lysosomal catabolism, the majority of which are inherited as autosomal recessive traits, with only three linked to the X chromosome.

BURDEN OF DISEASE

Gaucher disease

What is Gaucher disease?

Gaucher disease is the most common form of the sphingolipidosis, a type of lysosomal storage disorder. It is a multisystemic chronic disease involving the liver, spleen, bone marrow and lymph nodes with familial aggregation.

BURDEN OF DISEASE

Genetic inheritance of Gaucher disease

What is the genetic inheritance of Gaucher disease?

Gaucher disease is an autosomal recessive disorder secondary to mutations in the gene that encodes glucocerebrosidase, GBA1.

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Rare diseases

Steps towards a brighter future for patients with Gaucher disease

Getting the diagnosis right in children & adolescents

Gaucher disease & multiple myeloma

Gaucher disease & Parkinson's disease

Getting the diagnosis right in adults

WORLDSymposiumTM 2022 congress reports

Diagnosing Gaucher disease

Diagnosing Gaucher disease in siblings

Gene therapy

WORLDSymposiumTM 2021 congress reports

The 14th European Working Group on Gaucher Disease (EWGGD) congress reports

Lysosomal storage diseases

Gaucher disease

Genetic inheritance of Gaucher disease

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WORLDSymposium^TM 2022 congress reports

WORLDSymposium^TM 2021 congress reports