Farber’s Disease – Market Outlook, Epidemiology, Competitive Landscape, and Market Forecast Report – 2022 To 2032

 

Farber's disease, called acid ceramidase deficiency or Farber lipogranulomatosis, is an autosomal recessive lysosomal disorder where ceramide accumulates, and gangliosides can also build up. The disease's clinical symptoms typically emerge within the initial months of life, presenting as joint deformities, progressive hoarseness, and granulomatous infiltration in subcutaneous tissues, kidneys, and lungs. Neurological deficits are also common. A promising approach to prevent deterioration involves hematopoietic cell transplantation, especially in cases lacking significant neurological issues. Farber disease is marked by a triad of subcutaneous nodules over extensor joints, painful arthritic joints, and hoarseness due to laryngeal involvement. These nodules may appear on the eyelids, lips, and gums. Four types of Farber lipogranulomatosis can manifest in the neonatal period. The classic disease, Type I, is a distinct disorder occurring between approximately 2 weeks and 4 months of age. Patients experience hoarseness progressing to aphonia, feeding and respiratory difficulties, poor weight gain, and intermittent fever caused by granuloma formation and swelling of the epiglottis and larynx. Palpable nodules develop over joints and pressure points, leading to painful and swollen joints. Later, joint contractures and pulmonary disease may develop. Liver and cardiac complications and a subtle retinal cherry-red spot are possible. Severe and progressive psychomotor impairment, seizures, decreased deep tendon reflexes, hypotonia, and muscle atrophy can occur. Affected infants typically succumb to pulmonary disease in early infancy. Type 2, or intermediate, Farber lipogranulomatosis emerges from birth to 9 months with joint and laryngeal involvement and nodules. Death occurs in early childhood. Type 3 disease (mild) manifests slightly later, from around 2 to 20 months of age, with survival into the third decade. Both clinically resemble each other, dominated by subcutaneous nodules, joint deformities, and laryngeal involvement. Liver and pulmonary complications might be absent, and most patients have a normal intelligence quotient. Type 4, or neonatal visceral, Farber lipogranulomatosis is evident at birth, featuring hepatosplenomegaly due to extensive histiocyte infiltration in the liver, spleen, lungs, thymus, and lymphocytes. Subtle subcutaneous nodules and laryngeal involvement can be observed. Death typically occurs by 6 months of age. Across all Farber lipogranulomatosis types, tissue biopsies reveal granulomatous infiltration, foam cells, and lysosomes containing comma-shaped, curvilinear tubular structures known as Farber bodies. Patients with Type 1 disease may exhibit elevated cerebrospinal fluid protein levels. Diagnosis is often based on the striking clinical appearance, characterized by cachexia, flexion contractures, periarticular swelling, and subcutaneous nodules. Confirmation involves demonstrating reduced or absent acid ceramidase in leukocytes or cultured fibroblast samples and identifying two mutations in the ASAH gene. Additional supportive evidence includes the presence of perivascular aggregates of foamy histiocytes and identifying "Farber bodies" (crescentic-shaped bodies within Schwann cells) through electron microscopy in biopsy samples and elevated ceramide levels in cultured cells and urine. At present, no specific treatment exists for Farber's disease. Corticosteroids might be prescribed for pain relief. Bone marrow transplants could help improve granulomas in individuals with limited lung or nervous system complications.

• To date, around 200 documented cases of Farber disease have been reported globally.

Thelansis’s “Farber’s Disease Market Outlook, Epidemiology, Competitive Landscape, and Market Forecast Report – 2022 To 2032" covers disease overview, epidemiology, drug utilization, prescription share analysis, competitive landscape, clinical practice, regulatory landscape, patient share, market uptake, market forecast, and key market insights under the potential Farber’s Disease treatment modalities options for eight major markets (USA, Germany, France, Italy, Spain, UK, Japan, and China).

KOLs insights of Farber’s Disease across 8 MM market from the centre of Excellence/ Public/ Private hospitals participated in the study. Insights around current treatment landscape, epidemiology, clinical characteristics, future treatment paradigm, and Unmet needs.

Farber’s Disease Market Forecast Patient Based Forecast Model (MS. Excel Based Automated Dashboard), which Data Inputs with sourcing, Market Event, and Product Event, Country specific Forecast Model, Market uptake and patient share uptake, Attribute Analysis, Analog Analysis, Disease burden, and pricing scenario, Summary, and Insights.

Thelansis Competitive Intelligence (CI) practice has been established based on a deep understanding of the pharma/biotech business environment to provide an optimized support system to all levels of the decision-making process. It enables business leaders in forward-thinking and proactive decision-making. Thelansis supports scientific and commercial teams in seamless CI support by creating an AI/ ML-based technology-driven platform that manages the data flow from primary and secondary sources.

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