Gaucher Disease

Published Date : Dec 2023
Category : Genetic Diseases
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Bridging Gaps between Diagnosis and Treatment of Gaucher Disease and Exploring Market Opportunities.

Gaucher disease, the most predominant lysosomal storage disorder, presents with an elevated prevalence of approximately 1:40,000 individuals, but it is more common among Ashkenazi Jews. Gaucher disease (GB) is an autosomal recessive inborn fault of metabolism caused by mutations in the glucocerebrosidase (GBA1) gene. GBA1 is an enzyme that slices the beta-glucosidic linkage of glucocerebroside lipids. Gaucher disease is a moving testament to the intricate interaction between Gaucher disease genetics, biochemistry, and clinical medicine. It is characterized by the build-up of lipids, specifically glucocerebroside, in different body tissues and organs. A wide range of ages and backgrounds is affected by the mild to severe Gaucher disease symptoms. According to NCBI, GD is hereditary in an autosomal recessive manner. At the beginning, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier.

Gaucher disease refers to a range of clinical manifestations, from an asymptomatic type to a perinatal fatal illness. To determine prognosis and management, it is helpful to identify the three major clinical types of GB (1, 2, and 3) as well as the two additional subtypes (perinatal-lethal and cardiovascular).

GD type 1 is characterized by hepatosplenomegaly, anemia and thrombocytopenia, lung disease, the absence of primary central nervous system disease, and the presence of clinical or radiographic evidence of bone disease (osteopenia, focal lytic or sclerotic lesions, and osteonecrosis) are the characteristics of GD type 1.

GD types 2 and 3 are characterized by the occurrence of primary neurologic disease, in the past, they were eminent by age of onset and rate of disease progression, but these differences are not complete.

The perinatal-lethal form is linked to Nonimmune Hydrops Fetalis or Ichthyosiform or collodion skin abnormalities. Aortic and mitral valve calcification, mild splenomegaly, corneal opacities, and supranuclear ophthalmoplegia are the characteristics of the cardiovascular form. All clinical subtypes of cardiopulmonary complications have been reported, albeit with differences in frequency and severity.

The underlying cause of all Gaucher disease forms is a lysosomal deficiency of glucocerebrosidase activity, which is caused by mutations in the GBA1 gene. Glucocerebroside lipids accumulate toxically in all forms of Gaucher disease, mostly in the liver, spleen, and bone marrow. A glucose molecule is joined to the oxygen atom on carbon atom 1 of the ceramide sphingosine moiety to form a glucocerebroside. Although the exact genetic causes of the majority of Gaucher disease forms are known, the exact cause is still unknown. Individuals who share the same mutation exhibit unusually diverse signs and symptoms. Additionally, patients with very different genetic Gaucher disease mutations present with similar signs and symptoms. It's highly likely that an individual's unique genetic composition and environmental variables interact to determine how Gaucher's disease manifests phenotypically.

Patients with Gaucher disease present with numerous signs and symptoms, depending on the fundamental type of disease. Commonly seen presenting signs and symptoms are painless hepatomegaly and splenomegaly, hypersplenism and pancytopenia, severe joint pains, most frequently affecting the hips and knees, impaired olfaction and cognition (Type 1), severe convulsions, hypertonia, intellectual disability, and apnea (Type 2), myoclonus, seizures, dementia, and ocular muscle apraxia (Type 3), parkinsonism, osteoporosis, and yellowish-brown skin pigmentation.

According to NCBI, in the Ashkenazi (Eastern European) Jewish population, Gaucher disease is the most prevalent autosomal recessive illness, with a carrier frequency of 6% as opposed to 0.7% to 0.8% in the non-Jewish population. The Ashkenazi population is also prone to Tay-Sachs disease (3.7% carrier frequency) and cystic fibrosis (4% carrier frequency). Gaucher's disease is not very common. Less than 1 in 100,000 people have Types II and III, which have varied degrees of neurologic system involvement and a very rare incidence. Gaucher's disease type I, the most common lysosomal storage disorder, primarily affects adults. Experience in the US indicates that Type I disease accounts for over 90 to 95% of patients, even though the condition is still uncommon, affecting one in 30 to 40,000 people.

Type 1 Gaucher disease is the most prevalent kind. It usually lacks a neurological component and has a very variable phenotype, ranging from early childhood symptoms to no symptoms at all. Types 2 and 3 affect the central nervous system and are rarer than type 1. Type 3 usually results in death in mid- to early-adulthood, while Gaucher's type 2 and the perinatal lethal type typically cause neonatal death.

Industry players have emphasized that increasing their global market share requires innovation in the fields of diagnosis, treatment, and prevention. As such, it contributes to the globalization of product innovation.

DiseaseLandscape Insights (DLI) assists the stakeholders by providing data regarding the Gaucher disease market and enabling them to make educated choices regarding medical supplies, therapies, and diagnostic techniques. The illness market is being impacted by and growing because of numerous new inventions and technologies.

Diagnostic Analysis –

For the diagnosis of Gaucher disease determining the presence of mutant alleles in the GBA1 gene and detecting a low GBA1 enzyme level in peripheral blood leukocytes are necessary. Gaucher disease is diagnosed with only a blood sample, but some patients require unnecessary invasive bone marrow or liver biopsies to receive the proper diagnosis. Such accidents are prevented if physicians are aware of the Gaucher symptoms and indicators of Gaucher disease. Furthermore, a lot of patients with an enlarged liver or spleen are told they might have cancer before they receive a proper diagnosis.

Laboratory Testing

  • A standard blood test called a beta- Glucosidase leukocyte (BGL) test is used to check enzyme activity and diagnose Gaucher disease. However, most doctors are unaware of Gaucher's disease.
  • CBC Count - CBC and platelet count evaluate the degree of cytopenia.
  • Liver Function Enzyme Testing - Minor elevation of liver enzyme levels is common; the presence of jaundice or abnormal hepatocellular synthetic function gives evidence for further study.
  • Coagulation - Regular monitoring should be performed for coagulation.
  • Enzyme Activity - Diagnosis is confirmed by measurement of glucocerebrosidase activity in peripheral blood leukocytes. Less than 15% of mean normal activity is diagnostic for Gaucher disease. A BGL test for enzyme activity almost certainly show if a person has Gaucher disease. All patients with Gaucher disease have little glucocerebrosidase (GCase) enzyme activity, which is why their bodies cannot break down glucocerebroside (a fatty chemical). Hardly, BGL test results are inconclusive, in which case genetic testing usually helps clarify whether person have Gaucher disease.
  • Genotype Testing - Molecular diagnosis is often helpful in Ashkenazi patients, in whom 6 GBA1 mutations account for most disease alleles. In some ethnicities, sequencing of the exons of GBA1 is necessary to establish the genotype.

Associated Marker Testing - Angiotensin-converting enzyme, total acid phosphatase, and ferritin levels are usually raised. These levels are normalized with gaucher disease treatment. Observing chitotriosidase enzyme is useful except in the 10% of the population with a deficiency in this protein. Monitoring glucosylsphingosine levels are useful, as the level has been shown to correlate with response to Gaucher disease therapy.

Imaging Testing

  • MRI – MRI is useful in revealing early skeletal involvement including avascular necrosis, spinal degradation, and degree of bone marrow infiltration. Using radio waves and a strong magnetic field, an MRI shows whether the spleen or liver is enlarged and if bone marrow has been affected.
  • Radiography – It reveals skeletal manifestations and pulmonary involvement. Radiography is used primarily to image cortical bone. It detects lytic or sclerotic lesions within bones. Fractures, both traumatic and pathologic, are eagerly detected on radiographs.
  • Dual-energy X-ray absorptiometry (DXA) - This test uses low-level X-rays to measure bone density. This evaluates osteopenia and bone crises.
  • Echocardiograms (ECG) help evaluate the possibility of pulmonary hypertension.
  • In neuropathic Gaucher disease, monitoring of EEG, brainstem-evoked potential, swallowing studies, and neuro-ophthalmologic evaluation should be done at regular intervals.
  • Ultrasonography reveals abdominal organomegaly in Gaucher disease.

Bone Marrow Aspiration - In the past, the diagnosis was made by the discovery classic glycolipid-laden macrophages in Bone marrow transplantation aspirate. Today, bone marrow aspiration is not the early diagnostic test because the blood enzyme test is more sensitive, specific, and less invasive.

Liver Biopsy - A liver biopsy is performed to evaluate unexplained hepatomegaly. However, a biopsy is rarely necessary as a specific diagnostic test is available.

Diagnostic Market Players -

Market Players



vitek® 2 cbc

Hipro Biotechnology

Prealbumin (PA) Blood Test


PPI270A01 Liver Function Test

Hisky Medical Technologies

Liver cirrhosis ultrasound elastography system FT1000

Zecen Biotech Co., Ltd

Liver disease test kit



Melrose Biotechnology

Liver Function Test Kit

GP Getein Biotech,Inc.

AFP Fast Test Kit


Treatment Analysis -

There are two types of Gaucher treatment: substrate reduction therapy and enzyme replacement therapy. Gaucher disease enzyme replacement therapy often involves giving a patient an intravenous infusion of the missing or inadequate enzyme. This would be the GBA1 enzyme (also known as beta-glucosylceramidase or beta-glucocerebrosidase) in the case of gaucher disease. For Gaucher disease types 1 and 3, the FDA has approved Cerezyme (imiglucerase) and VPRIV (velaglucerase alfa) as enzyme replacement therapies.

The blood-brain barrier usually prevents enzyme replacement therapy from replacing an enzyme deficiency in the brain, which means it is ineffective in treating the central nervous system issues linked to types 2 and 3 Gaucher disease. Enzyme replacement therapy helps with the "non-brain" symptoms of Gaucher's type 3, such as skeletal problems and enlarged organs. Enzyme replacement therapy only treats the indications, gaucher syndrome symptoms, and residual harm brought on by the buildup of toxins, it does not address the underlying genetic defect. Additionally, antibodies to the substitute enzyme develop.

Gaucher disease substrate reduction therapy uses a different approach than enzyme replacement therapy and is an oral small-molecule medication (not protein). Reducing substrate levels to a clinically less toxic level lessen the toxic accumulation of the substrate's subsequent degradative product. This is the aim of substrate reduction therapy. The aim of substrate reduction therapies for Gaucher disease is to block the first committed step of glycosphingolipid biosynthesis. Elinglustat and miglilustat are the two FDA-approved substrate reduction therapy medications used to treat Gaucher disease patients. Eliglustat is a glucosylceramide synthase inhibitor that does not effectively cross the blood-brain barrier and is only indicated for type 1 Gaucher disease. The effectiveness and safety of eliglustat in pediatric patients are still unknown. Miglustat helps to treat types 2 and 3 of Gaucher disease because it passes through the blood-brain barrier. However, currently, miglustat is only recommended for the treatment of adults with mild to moderate type 1 Gaucher disease.

Another treatment option for Gaucher's disease is hematopoietic stem cell transplantation. However, because of its high risk of morbidity and mortality, it has lost popularity with the development of enzyme and substrate replacement therapies. It is still the only effective course of treatment of Gaucher available to people with type 3 Gaucher's disease currently.

Although rarely performed these days, a splenectomy is helpful for patients experiencing severe, uncontrollable abdominal pain or uncontrolled, uncontrolled thrombocytopenia. In accordance with institutional guidelines, patients having splenectomy should be vaccinated against encapsulated organisms and counseled about the increased risk of infections.

Treatment Market Players –


Market Players


Genzyme Corporation




Actelion Pharmaceuticals US, Inc.


Amicus Therapeutics, Inc.


Amicus Therapeutics, Inc.


Recent Development –

Advances in treating Gaucher disease, in which India shares 17% of the global population, has finally had its first dedicated policy on making treatment of rare diseases accessible and affordable.

While rare diseases like Gaucher Disease and their cure are very difficult to understand and determine, from a research viewpoint, the rarity of rare diseases provides scientists and medical researchers unique avenues of understanding human bioscience. So, any success on these fronts potentially has an extensive impact on other disease areas. Gaucher is one of such rare diseases that is witnessing much interesting work being done.

Being an inherited metabolic lysosomal storage disease (LSD), Gaucher is caused by mutations in both copies of the glucocerebrosidase (GBA1) gene, causing in the deficiency of the β-glucosidase enzyme. The enzyme deficiency causes the accumulation of toxic materials in the body’s cells, affecting different body parts, including the central nervous system, skin, heart, skeleton, and so on. There are around 50 types of known LSDs, with Gaucher being the most common LSD in the world.

Clinical Trial Assessment

The advancement in technology research and government initiatives has increased the scope for clinical trials. One of the main objectives of healthcare reform is realized by industry participants thoroughly assessing medical therapy using clinical data.

DiseaseLandscape Insights helps in the design and management of clinical trials for novel Gaucher disease and therapies, patient recruiting plans, regulatory compliance, and the protection of successful trial outcomes, etc.

The below table enlists study titles of clinical trials currently in development according to the phases they are being conducted:

Phase 1

Phase 2

Phase 3

Phase 4

Phase 1: 4 newly treated subjects with Type I Gaucher disease (GD1). Phase 2: 36 newly treated subjects with GD1 or Type III Gaucher disease (GD3)

Multicentre Double-blinded, Randomized Placebo-controlled Study of Arimoclomol in Patients Diagnosed with Gaucher Disease Type 1 or 3

Guard3: An Open-label, Parallel-arm, Randomized, Controlled, Phase 2/Phase 3 Study Evaluating the Efficacy and Safety of Autologous HSC Gene Therapy, AVR-RD-02, Compared to ERT for Gaucher Disease Type 3 in Participants Aged 2 to 25

The Effect of Velaglucerase Alfa (Vpriv) on Skeletal Development in Pediatric Gaucher Disease

An Open-label, Dose-Finding, Phase 1/2 Study to Evaluate the Safety and Tolerability of a Single Intravenous Dose of LY3884961 in Patients with Peripheral Manifestations of Gaucher Disease (PROCEED)

A Phase 1/2 Open-label, Dose Escalation Study Followed by a Multi-centre, Randomized, Double-blind, Dose Comparison Study to Evaluate the Efficacy, Safety, Tolerability, Pharmacokinetics of CAN103 in Newly Treated Gaucher Disease

A Multicentre, Open-Label Phase III Study to Evaluate the Safety and Efficacy of ISU302 (Imiglucerase for Injection) in Patients with Type 1 Gaucher Disease

A Multicentre, Safety and Efficacy Study of Taliglucerase Alfa in Subjects with Type 3 Gaucher Disease

A Phase 1, Open-label, Safety, Tolerability, and Efficacy Study of FLT201 in Adult Patients with Gaucher Disease Type 1 (GALILEO-1)

A 4-part, Open-label, Multicentre, Multinational Study of the Safety, Tolerability, Pharmacokinetics, Pharmacodynamic, and Exploratory Efficacy of Venglustat in Combination with Cerezyme in Adult Patients with Gaucher Disease Type 3 With Venglustat Monotherapy Extension

A Phase 3, Randomized, Double-Blind, Placebo-Controlled, Multi-Centre Study Confirming the Efficacy and Safety of Genz-112638 in Patients with Gaucher Disease Type 1 (ENGAGE)

Long Term Impact of Rapid Intravenous Infusion of Velaglucerase Alfa (VPRIV) in Adult Patients with Type 1 Gaucher Disease, previously on a Stable Dose of VPRIV for at Least 3 Months: An Extension of the Investigator-initiated Study

An Open-label, Phase 1/2 Study to Evaluate the Safety and Efficacy of Single-dose LY3884961 in Infants with Type 2 Gaucher Disease

Guard3: An Open-label, Parallel-arm, Randomized, Controlled, Phase 2/Phase 3 Study Evaluating the Efficacy and Safety of Autologous HSC Gene Therapy, AVR-RD-02, Compared to ERT for Gaucher Disease Type 3 in Participants Aged 2 to 25

A Phase 3, Randomized, Multi-Centre, Multi-National, Open-Label, Active Comparator Study to Evaluate the Efficacy and Safety of Genz-112638 in Patients with Gaucher Disease Type 1 Who Have Reached Therapeutic Goals with Enzyme Replacement Therapy (ENCORE)

A Single Arm, Prospective, Open Label, Multicenter Study to Evaluate Efficacy and Safety of One-year Maximum Dosage in Chinese Label of Imiglucerase Treatment in Chinese Patients Who Are Diagnosed as Gaucher Disease Type Ⅲ

A Multi-center, Open-label, Efficacy and Safety Study of Velaglucerase Alfa Enzyme Replacement Therapy in Children and Adolescents with Type 3 Gaucher Disease

An Open-label, Dose-Finding, Phase 1/2 Study to Evaluate the Safety and Tolerability of a Single Intravenous Dose of LY3884961 in Patients with Peripheral Manifestations of Gaucher Disease (PROCEED)

An Open-Label Extension Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) Enzyme Replacement Therapy in Patients with Type 1 Gaucher Disease

A Multicentre, Interventional, Retrospective and Prospective Study of Enzyme Replacement Therapy (VPRIV) Clinical Outcomes and Safety in Gaucher Disease Type 1 Patients Previously Treated with Substrate Reduction Therapy


Conclusion –

There are different market scenarios concerning Gaucher disease-specific diagnostics and therapies. Governments have reported various investment and centre developments in the field of Gaucher disease diagnosis and treatment. The impact of Gaucher disease, as well as difficulties related to economic viability regarding treating Gaucher disease.

DLI helps with target market identification, marketing strategy development, and informing industry participants about new trends. Healthcare organizations gain a competitive advantage, improve patient outcomes, and make a positive impact on global healthcare standards by leveraging DLI expertise.

This incentivizes multinational corporations to conduct research in the areas of Gaucher disease diagnosis and treatment, as well as legal compliance among manufacturers. Overall, DLI services aids in the establishment of a stronger foothold for all market participants.

Vishal SawantBusiness Development

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