China Releases the Country’s First Batch of 121 Rare Diseases

On May 22, 2018, the First List of Rare Diseases was released jointly by 5 authorities, namely, China’s National Health Commission, Ministry of Science and Technology, State Drug Administration, Ministry of Industry and Information Technology, and State Administration of Traditional Chinese Medicine. 121 rare diseases are included in the list. The long-awaited list of rare diseases will surely provide significant references for organizations to carry out prevention, screening, diagnosis, treatment, and rehabilitation related work, and also for authorities on formulating S&T research, social security, and medical assistance policies.

Early in August 2015, the State Council enacted polices that came up with the idea of accelerating the scrutiny of rare disease drugs. And in 2016, Shanghai Municipal Commission of Health and Family Planning issued the List of Rare Diseases in Shanghai with 56 rare diseases included. Later on, Chinese Organization for Rare Disorders(CORD) put forward the List of Reference on Rare Diseases in China with 147 diseases included, among which 88 are included in the newly-released national list. In 2017, the Ministry of Human Resources and Social Security presented the List of Drugs Covered by National Medical, Employment Injury, and Maternity Insurances, which improved security coverage on such rare diseases as hemophilia, idiopathic pulmonary fibrosis, amyotrophic lateral sclerosis etc.

The list, as a fruit of multilateral efforts from the industry, is the very first batch of rare diseases released by China, and the country is waiting for the coming second and third batches.

Huang Rufang, the founder of CORD, said that the list is one of the most important policies carried out in the development of rare diseases in China. “I am so delighted as a rare disease patient myself to see such a great leap made in this industry under concerted efforts,” Huang said. Professor Huang Guoying, the director of Children’s Hospital of Fudan University reputed the list as a milestone in the industry, which will greatly propel the development of treatment, clinic management, scientific research, drugs R&D, health insurance and charity on rare diseases in China.

The List of Rare Diseases (I)

1. 21-Hydroxylase Deficiency

2. Albinism

3. Alport Syndrome

4. Amyotrophic Lateral Sclerosis

5. Angelman Syndrom

6. Arginase Deficiency

7. Asphyxiating Thoracic Dystrophy / Jeune Syndrome

8. Atypical Hemolytic Uremic Syndrome

9. Autoimmune Encephalitis

10. Autoimmune Hypophysitis

11. Autoimmune Insulin Receptopathy

12. Beta-Ketothiolase Deficiency

13. Biotinidase Deficiency

14. Cardic Ion Channelopathies

15. Carnitine Deficiency

16. Castleman disease

17. Charcot-Marie-Tooth Disease

18. Citrullinemia

19. Congenital Adrenal Hypoplasia

20. Congenital Hperinsulinemic Hypoglycemia

21. Congenital Myasthenia Syndrome

22. Congenital Myotonia Syndrome / Non-Dystrophic Myotonia

23. Congenital Scoliosis

24. Coronary Artery Ectasia

25. Diamond-Blackfan Anemia

26. Erdheim-Chester Disease

27. Fabry Disease

28. Familial Mediterranean Fever

29. Fanconi Anemia

30. Galactosemia

31. Gaucher Disease

32. General Myathenic Gravis

33. Gitelman Syndrome

34. Glutaric Acidemia Type 1

35. Glycogen Storage Disease (Type 1、2)

36. Hemophilia

37. Hepatolenticular Degeneration / Wilson Disease

38. Hereditary Angioedema

39. Hereditary Epidermolysis Bullosa

40. Hereditary Fructose Intolerance

41. Hereditary Hypomagnesemia

42. Hereditary Multi-Infarct Dementia / Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts And Leukoencephalopathy

43. Hereditary Spastic Paraplegia

44. Holocarboxylase Synthetase Deficiency

45. Homocysteinemia

46. Homozygous Hypercholestrolemia

47. Huntington Disease

48. Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome

49. Hyperphenylalaninemia

50. Hypophosphatasia

51. Hypophosphatemic Rickets

52. Idiopathic Cardiomyopathy

53. Idiopathic Hypogonadotropic Hypogonadism

54. Idiopathic Pulmonary Arterial Hypertension

55. Idiopathic Pulmonary Fibrosis

56. Castleman disease

57. IgG4-related Disease

58. Isovaleric Acidemia

59. Kallmann Syndrome

60. Langerhans Cell Histiocytosis

61. Laron Syndrome

62. Leber Hereditary Optic Neuropathy

63. Long Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency

64. Lymphangioleiomyomatosis

65. Diamond-Blackfan Anemia

66. Lysine Urinary Protein Intolerance

67. Maple Syrup Urine Disease

68. Marfan syndrome

69. McCune-Albright Syndrome

70. Medium Chain Acyl-Coa Dehydrogenase Deficiency

71. Methylmalonic Acidemia

72. Mitochondrial Encephalopathy

73. Mucopolysaccharidosis

74. Multifocal Motor Neuropathy

75. Multiple Acyl-CoA Dehydrogenase Deficiency

76. Multiple Sclerosis

77. Multiple System Atrophy

78. Myotonic Dystrophy

79. NAGS Deficiency

80. Neonatal Diabetes Mellitus

81. Neuromyelitis Optica

82. Niemann-Pick Disease

83. Non-Syndromic Deafness

84. Noonan Syndrome

85. Ornithine Transcarbamylase Deficiency

86. Osteogenesis Imperfecta

87. Parkinson Disease (Young-onset, Early-onset)

88. Paroxysmal Nocturnal Hemoglobinuria

89. Peutz-Jeghers Syndrome

90. Phenylketonuria

91. POEMS Syndrome

92. Porphyria

93. Prader-Willi Syndrome

94. Primary Combined Immune Deficiency

95. Primary Hereditary Dystonia

96. Primary Light Chain Amyloidosis

97. Progressive Family Intrahepatic Cholestasis

98. Progressive Muscular Dystrophies

99. Propionic Acidemia

100. Pulmonary Alveolar Proteinosis

101. Pulmonary Cystic Fibrosis

102. Retinitis Pigmentosa

103. Retinoblastoma

104. Severe Congenital Neutropenia

105. Severe Myoclonic Epilepsy in Infancy / Dravet Syndrome

106. Sickle Cell Disease

107. Silver-Russell Syndrome

108. Sitosterolemia

109. Spinal and Bulbar Muscular Atrophy / Kennedy Disease

110. Spinal Muscular Atrophy

111. Spinocerebellar Ataxia

112. Systemic Sclerosis

113. Tetrahydrobiopterin Deficiency

114. Tuberous Sclerosis Complex

115. Tyrosinemia

116. Very Long Chain Acyl-CoA Dehydrogenase Deficiency

117. Williams Syndrome

118. Wiskott-Aldrich Syndrome

119. X-linked Agammaglobulinemia

120. X-linked Adrenoleukodystrophy

121. X-linked Lymphoproliferative Disease