The World Health Organization (WHO) defines rare disease, also known as orphan disease, as any disease which affects a small percentage of the general population. Although individually rare, collectively there are over 6000 types and this constitutes a large number of patients, who share many issues in common (EURORDIS, 2009). About 80% of rare diseases are genetic in nature while those that are caused by other factors such as exposure to environmental factors, chemicals during pregnancy, infections and rare cancers are not inherited. About 30% of rare disease patients die before the age of five. About 9% or 45 million people in South East Asia are afflicted by orphan diseases (Right Diagnosis, 2015). Examples of rare diseases include inherited metabolic diseases such as lysosomal storage diseases; neuromuscular diseases such as Duchenne muscular dystrophy and spinal muscular atrophy; blood diseases such as haemophilia; bone disorders such as brittle bone disease and achondroplasia; and adult-onset diseases such as Huntington’s disease and motor neurone disease.

Rare disease is not officially defined in Malaysia. Malaysian Rare Disorder Society (MRDS), rare disease is defined as disease that affects less than 1 in 4000 individuals in a community.

As per a recent study by School of Pharmaceutical Sciences, Universiti Sains Malaysia and University Malaya Medical Centre, only 60% of the rare disease patients are receiving treatment in Malaysia. There are several reasons as to why rare disease patients have problems accessing affordable drugs, such as:

  •  Lack of formal definition for rare diseases in Malaysia which complicates its effective monitoring and management. Consequently, no epidemiological study or registry exists which can be used as a baseline data for further action
  • Lack of experienced clinicians and diagnostic equipment in Malaysia. Most of the facilities are available in Kuala Lumpur (KL) and in very few visiting hospitals
  • Lack of orphan drugs due to high cost (may cost > RM 1 million per year (USD $240,855)

Malaysia is one of the few countries in the SEA region which provides public subsidies for rare diseases such as for ERT. The cost of treatment for ERT in Malaysia for a single patient can cost between RM 500,000 to RM 1 million per year. At present, funding for treatment is contingent on charities, public and industrial subsidy or OOP payments. Malaysian government also provides dedicated funds to gain access to orphan drugs and special milk formula needed to treat rare inborn error of metabolism. However, even with the availability of innovative drugs being developed, they are often not registered with the Health Ministry’s Medicine Formulary but can be provided via special approvals on a case-by-case basis.

A small number of patients does not mean it is not important or not serious. These unfortunate patients also have their right as Malaysians to get the optimum treatment for their condition. These patients, once treated, are able to be productive and useful members of society. Despite their difficulties, some have successfully furthered their studies to university.

These patients, once treated, are able to be productive and useful members of society. Despite their difficulties, some have successfully furthered their studies to university.

Top 5 Rare Disease

Marfan syndrome 81 Patients

Only 41 Patients Treated

Prader-Willi syndrome 60 Patients

Only 10 Patients Treated

Osteogenesis imperfecta 45 Patients

Only 44 Patients Treated

MELAS 39 Patients

Only 23 Patients Treated

MPS type II 39 Patients

Only 9 Patients Treated

* Info presented by Prof Asrul during IDEAS Rare Disease Symposium

Rare Disease Groups

Congenital syndromes 222 Patients

Only 85 Patients Treated

Disorders of energy metabolism 138 Patients

Only 93 Patients Treated

Lysosomal disorders 120 Patients

Only 34 Patients Treated

Urea cycle disorders 100 Patients

Only 62 Patients Treated

Disorders affecting bone, cartilage and connective tissue 92 Patients

Only 55 Patients Treated

Neurolgy disorders 86 Patients

Only 60 Patients Treated

Disorders of metabolism of amino acids 74 Patients

Only 55 Patients Treated

Organic acidurias 73 Patients

Only 71 Patients Treated

Muscle disorders 49 Patients

Only 41 Patients Treated

Disorders in the metabolism of vitamins 48 Patients

Only 35 Patients Treated

* Info presented by Prof Asrul during IDEAS Rare Disease Symposium

Rare Disease's found in Malaysia

1. aromatic amino acid decarboxylase
2. achondroplasia
3. akromegali syndrome
4. albinism syndrome
5. arthrogryposis multiplex congenita
6. angelman syndrome
7. aniridia syndrome
8. apert syndrome
9. bilateral left cleft schizencephaly
10. binder syndrome
11. becker muscular dystrophy
12. congenital glycosylation disorder type 1b
13. cerebral palsy
14. chromosome 4 10 balanced translocation
15. costello syndrome
16. cystic fibrosis
17. duchenne muscular dystrophy
18. darier disease
19. dwarfism
20. dyssegmental dysplasia
21. ectodermal dysplasia
22. edward syndrome
23. Gabry
24. facioscapulohumeral muscular dystrophy
25. fibrodysplasia ossificans progressiva
26. fragile x syndrome
27. Fucosidosis
28. FoxG1
29. Gaucher
30. GM1

31. glutaric aciduria type 1
32. goldenhar syndrome
33. hirschsprung disease
34. ichthyosis syndrome
35. joubert syndrome
36. Krabbe
37. kabuki syndrome
38. lack of chromosome 16
39. limb body wall complex
40. Leschy-Nyhan disease
41. marfan syndrome
42. methemoglobinemia
43. methylmalonic aciduria
44. Mitochondrial disease
45. Mitochondrial Cytopathy disease
46. mosaic turner syndrome
47. hunter syndrome
48. mucopolysaccharidosis type 1
49. mucopolysaccharidosis type 2
50. mucopolysaccharidosis type 3a
51. mucopolysaccharidosis type 3b
52. mucopolysaccharidosis 4
53. mucopolysaccharidosis 6
54. morquio syndrome
55. mayer-rokitansky-kuster-hauser syndrome
56. neonatal intrahepatic cholestasis citrin deficiency
57. neurofibromatosis type 1
58. neurofibromatosis type 2
59. lennox-gastaut syndrome
60. noonan syndrome

61. osteogenesis imperfecta type 3
62. pallister-killian syndrome (tetrasomy 12p)
63. phelan mcdermid syndrome
64. prader willi syndrome
65. Pompe
66. pseudoachondroplasia
67. rett syndrome
68. ring 9 syndrome
69. scleroderma
70. seckel syndrome
71. spinal muscular atrophy type 1
72. spinal muscular atrophy type 2
73. spina bifida
74. stickler syndrome
75. thrombocytopenia absent radius syndrome
76. triple x syndrome
77. tuberous sclerosis
78. Urea Cycle Disorder(Ariginase Deficiency) disease
79. williams-beuren syndrome
80. Sotos Syndrome
81. Perthes Syndrome
82. Treacher Collins Syndrome
83. Nemaline rod mypothy
84. Alveolar hyperventilation syndrome