Key opinion leaders (KOLs) interviewed by GlobalData emphasized an urgent need for earlier diagnosis in the Gaucher disease landscape.

The insights derived from these experts underscore the pivotal role timely diagnosis plays in improving patient outcomes and advancing healthcare strategies worldwide.

Gaucher disease is a rare inherited metabolic disorder in which a deficiency of the enzyme glucocerebrosidase (GCase), caused by mutations in the GBA1 gene, results in the harmful accumulation of certain lipids throughout the body. These lipids, specifically glucocerebroside, accumulate in the spleen, liver, and bone marrow, presenting a unique set of challenges for physicians. Common manifestations include an abnormally enlarged liver and spleen (hepatosplenomegaly), low levels of platelets (thrombocytopenia) and red blood cells (anemia), as well as skeletal abnormalities.

The signs and symptoms of Gaucher disease vary among the disease’s types: type 1 (non-neuronopathic), type 2 (acute neuronopathic), and type 3 (chronic neuronopathic). Current treatment options consist of enzyme replacement therapy (ERT), which aims to increase GCase levels, or substrate reduction therapy (SRT) to reduce glucocerebroside levels.

Approved ERTs include Sanofi’s Cerezyme (imiglucerase), Takeda’s VPRIV (velaglucerase alfa), and Pfizer’s Elelyso (taliglucerase alfa), while current SRTs include Sanofi’s Cerdelga (eliglustat tartrate) and Actelion Pharmaceuticals’s Zavesca (miglustat). Despite offering therapeutic benefit to type 1 and some type 3 patients, current diagnostic approaches require necessary improvements.

According to KOLs, delayed diagnoses in many Gaucher disease patients contribute to slower-than-optimal initiation of treatment, resulting in many receiving delayed medical care.

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Typically, Gaucher disease patients undergo glucocerebrosidase activity testing and/or genetic testing to reveal pathogenic variants on the GBA1 gene. However, there have been historical difficulties in diagnosing patients due to the variety in disease development and complex symptoms, especially between subtypes. In addition to strong disease overlap and low prevalence, healthcare systems have faced notable difficulties in diagnosing Gaucher disease patients.

With more than 500 Gaucher disease-associated mutations, it is difficult to predict phenotype or prognosis based on genotypes. This complexity can lead to delayed diagnosis and in certain instances, treatment initiation only occurs when specific symptoms, such as advanced bone disease, become irreversible.

Reflecting on this challenge, a European KOL remarked, “Regrettably, we do have quite a lot of patients with irreversible bone disease as a result of late diagnosis.”
Moreover, KOLs highlighted the potential for newborn screening (NBS) protocols as a means to reduce diagnostic delays and ensure patients receive essential treatment in a timely manner. While NBS has shown to be effective in other diseases including sickle cell disease and cystic fibrosis, NBS has faced challenges, including challenges within the Gaucher disease landscape.

NBS involves high costs to payers and may create issues such as parental anxiety, as well as potentially resulting in insurance discrimination if results show positive results for Gaucher disease. One US KOL stated, “It has been difficult to get Gaucher on the Recommended Uniform Screening Panel (RUSP). But there is a fair amount of pressure to include Gaucher in NBS panels.” While promising, NBS adoption requires significant resources such as training healthcare professionals, and developing technological infrastructure that may require large amounts of funding to set up and optimize testing protocols.

In a similar manner, prenatal screening has been encouraged by KOLs interviewed by GlobalData. However, prenatal screening encounters challenges, particularly within the Ashkenazi Jewish community, which demonstrates the highest Gaucher disease prevalence. This elevated carrier frequency creates a unique context for prenatal screening, where cultural and religious considerations play a crucial role in decision-making. As highlighted by a KOL, “Once a family gets a certain mark, it makes things difficult.” This quote underscores the challenges associated with screening.

Addressing these challenges necessitates culturally sensitive approaches that acknowledge and respect the perspectives of families, while providing necessary support for informed decision-making to support family planning.

By diagnosing patients earlier, irreversible symptoms can be avoided, patient outcomes will improve, and drug companies will be able to increase market share by capturing higher numbers of patients. This can be achieved by careful planning by healthcare systems and drug companies to promote diagnostic approaches such as newborn and prenatal testing via educating patients on the benefits, as well as by supporting dialogues between societies representing Gaucher disease physicians and patient advocacy groups.