1、Rare Diseases Unraveled:Insights into Market Growth,Drug Innovation,and Industry Leaders Sept 2ContentsIntroduction3Regional prevalence of rare diseases3Challenges experienced by patients3Market access to rare disease therapies4Rare disease regulatory guidelines4Challenges faced by the pharma indust

2、ry6Rare diseases market revenue6Top-selling orphan drugs7Key established market players8Emerging companies making an impact in the rare disease market12Fabrys disease14Angelman syndrome22Kabuki syndrome25Alstroms Syndrome26Job syndrome27Cerebrotendinous xanthomatosis28Cockayne syndrome29Progeria30Le

3、sch-Nyhan syndrome32Colour vision defects33Fibrodysplasia ossificans progressiva34Metachromatic leukodystrophy39Aicardi-Goutires-syndrome42Capillary leak syndrome43Cryopyrin-associated periodic syndromes44Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy48Li-

4、Fraumeni syndrome49Giant lymph node hyperplasia50Erythropoietic porphyria53Total R&D deal value for rare diseases over 17 Years55Top R&D deals for rare diseases over the past four years56Conclusion59References60Rare Diseases Unraveled:Insights into Market Growth,Drug Innovation,and Industry Leaders

5、IntroductionHistorically,rare diseases have not received adequate attention due to their impact on a small number of individuals.The rarity of a disease is determined by its prevalence,which refers to the number of individuals affected by it.In the United States,a disease is classified as rare if fe

6、wer than 200,000 people are affected by it,equivalent to 60 per 100,000 individuals.Internationally,the definition varies:in the European Union,a disease is considered rare if it affects no more than 50 per 100,000 people,while the World Health Organization defines rare diseases as those affecting f