Tackling rare diseases is no longer a far away frontier; great strides have been taken in the treatment options for rare diseases, including advanced genetic therapies, such as viral mediated gene transfer and CAR-T therapies.

 

 

 

Treatment
Although there is an increase in the number of drugs in development, a significant unmet need for therapies exists
Several challenges still exist preventing or delaying patients from receiving the medication and care they need
Misdiagnosis and late diagnosis – 40% of rare disease patients are misdiagnosed at least once
Patients’ need for relevant information and hands-on support (around treatment, emotional impact and adherence)
Demonstrating cost-effectiveness and developing payment pathways/alternative payment models is essential to secure market access and sustainability

 

Experience Across Various Rare Diseases

We have completed projects that include:

  • Commercial opportunity assessment
  • Asset search and screening for BD&L
  • Future disease landscape
  • Patient flow analysis/patient journey mapping
  • Prioritization of LCM programs
  • Competitive environment

 

Key Rare Diseases Covered:

  • Neurology
    • Lennox-Gastaut syndrome
    • Spinal muscular atrophy
    • Acute repetitive seizures
    • Amyotrophic lateral sclerosis
    • Friedrich’s ataxia
    • Huntington’s disease
    • Poly-Q diseases
    • Fragile-X syndrome
    • Myasthenia gravis
    • Dravet syndrome
    • Duchenne muscular dystrophy
  • Rheumatology
    • Behcet’s disease
    • Juvenile idiopathic arthritis
    • Systemic sclerosis
    • Adult onset Still’s disease
    • Giant cell arteritis
  • Hematology
    • Paroxysmal nocturnal hemoglobinuria (PNH)
    • Essential thrombocythemia
    • Atypical hemolytic uremic syndrome
    • Wiskott-Aldrich syndrome
    • Thrombotic thromboyctopenic purpura (TTP)
    • Hemophilia
    • Sickle cell disease
    • Immune thrombocytopenia (ITP)
    • Cold agglutinin disease
  • Metabolic
    • Homozygous familial hypercholesterolemia (HoFH)
    • Niemann pick disease
    • Adrenoleukodystrophy
    • Wiskott-Aldrich syndrome
    • Cushing syndrome
    • Hemophilia
    • Pompe disease
    • Hunter syndrome
    • Mucopolysaccharidosis
    • Fabry’s disease
    • Carbamoyl-phosphate synthase-1 deficiency
  • Oncology
    • Metastatic melanoma
    • Mantle cell lymphoma
    • Peripheral t-cell lymphoma
    • Acute lymphoblastic leukemia
    • Hodgkin lymphoma
    • CML
    • Myelodysplastic syndromes
    • Small cell lung cancer
    • AML
    • mRCC
    • Waldenstromg macroglobulinemia
    • Relapse refractory multiple myeloma
    • Mesothelioma
  • Ophthalmology
    • Retinitis pigmentosa
    • X-linked juvenile retinoschisis (XLRS)
    • Choroideremia (CHM)
    • Neuromyelities optica
    • Lever hereditary optic neuropathy
    • Stargardt’s disease
  • Nephrology
    • Membranous glomerulonephritis
    • C3 glomerulopathy
    • Polycystic kidney disease
    • Lupus nephritis
    • Focal segmental glomerulosclerosis
  • Others
    • aGvHD/cGvHD
    • Cystic fibrosis
    • X-linked chronic granulomatous disease
    • Idiopathic pulmonary fibrosis
    • Kawasaki disease
    • Primary sclerosing cholangitis