1 of 24

Appraising National Policy and Access to Orphan Drugs for Rare Disease Treatment in Malaysia

as

by Azuwana Supian

Appraising National Policy and Access to Orphan Drugs for Rare Disease Treatment in Malaysia – by Azwa

  • 12 July 2025
  • Auditorium Perdana Hospital Tunku Azizah (HTA)
  • HKL Pharmacy Conference Be Precise 2.0 #GLOW2025’ �(Genetic Literacy Opening Windows To Personalized Therapy 2025)

2 of 24

RECAP: RARE DISEASE FACTS

PATIENT JOURNEY

RARE DISEASE: CURRENT POLICY LANDSCAPE

MALAYSIAN ORPHAN MEDICINES GUIDELINE

MALAYSIA: ACCESS TO MEDICINES

MALAYSIAN REGISTERED ORPHAN MEDICINES

CHALLENGES IN ACCESSING ORPHAN MEDICINES

IMPACT OF PATIENTS & HEALTHCARE SYSTEM

KEY RECOMMENDATIONS FOR POLICY ENHANCEMENT

FOSTERING COLLABORATION & SUPPORT NETWORKS

CONCLUSION: TOWARDS A BRIGHTER FUTURE

1

2

3

4

5

6

7

8

9

10

11

12

ORPHAN MEDICINES �DESIGNATION & REGISTRATION

TABLE OF CONTENT

Appraising National Policy and Access to Orphan Drugs for Rare Disease Treatment in Malaysia – by Azwa

3 of 24

80% are of genetic origin

30% of these childhood rare die before 5 year old

75% affect children

A life-threatening or chronically debilitating rare condition affecting a small percentage of the general population.

RECAP: RARE DISEASE FACTS

Appraising National Policy and Access to Orphan Drugs for Rare Disease Treatment in Malaysia – by Azwa

4 of 24

PATIENT JOURNEY

Appraising National Policy and Access to Orphan Drugs for Rare Disease Treatment in Malaysia – by Azwa

5 of 24

MALAYSIA: ACCESS TO MEDICINES

AIM: To improve the health of the nation through strengthening equitable access and promoting the rational use of medicines to achieve better health outcomes for Malaysians

.

quality

effective

safety

affordable

Appraising National Policy and Access to Orphan Drugs for Rare Disease Treatment in Malaysia – by Azwa

6 of 24

CURRENT POLICY LANDSCAPE

National Rare Disease Policy

Healthcare Infrastructure

Funding for Orphan Drugs

Appraising National Policy and Access to Orphan Drugs for Rare Disease Treatment in Malaysia – by Azwa

7 of 24

National Rare Disease Policy

Malaysia has made strides in recognizing rare diseases through a national policy framework, aiming to provide guidance for diagnosis, management, and support.

However, its implementation and comprehensive scope are still evolving, particularly regarding consistent funding and access mechanisms.

CURRENT POLICY LANDSCAPE

will publish

soon… ☺

Appraising National Policy and Access to Orphan Drugs for Rare Disease Treatment in Malaysia – by Azwa

8 of 24

TOR :

  1. Provides direction and leadership in a comprehensive and holistic rare diseases management
  2. To establish policies, programmes, strategies and interventions for rare disease in Malaysia
  3. To establish the strategies and activities related to the availability and accessibility of orphan drugs
  4. To plan strategies related to financial allocation, cost analysis and cost impact for medicines & orphan products in the Ministry of Health Malaysia
  5. To monitor the implementation of guidelines and standard operating procedures for the management of rare diseases in Malaysia.

NATIONAL RARE DISEASE COMMITTEE

CHAIRPERSON

Deputy Director General of Health (Medical)

Technical Committee on Clinical Management & Support Services

Technical Committee on Orphan Drugs

Technical Committee on Advocacy & Health Education

SECRITARIAT

O&G & Peadiatric Services Unit, Medical Development Division

6. To provides policies and strategies for prevention of rare diseases through advocacy and public health education including prenatal diagnosis and newborn screening.

Appraising National Policy and Access to Orphan Drugs for Rare Disease Treatment in Malaysia – by Azwa

9 of 24

RARE DISEASE DEFINITION IN MALAYSIA

492 type of

rare disease

Definition: Rare disease is defined as a life-threatening and/or chronically debilitating rare condition as listed in the Malaysian Rare Disease List.

The criteria for inclusion a disease in the Malaysian Rare Disease List are :-

    • There are confirmed patients in Malaysia
    • The disease affects fewer than 1 in 4,000 people in Malaysia
    • The disease is a severe condition
    • Approved by the National Rare Disease Committee

Appraising National Policy and Access to Orphan Drugs for Rare Disease Treatment in Malaysia – by Azwa

10 of 24

CURRENT POLICY LANDSCAPE

Specialised centres and expert networks are being established to cater patients with rare diseases.

While urban areas may have better access, significant disparities persist in rural regions, affecting timely diagnosis and continuous

care for many.

Healthcare Infrastructure

Appraising National Policy and Access to Orphan Drugs for Rare Disease Treatment in Malaysia – by Azwa

Genetic Clinic

Visiting Clinic

11 of 24

Funding for Orphan Drugs

Funding for orphan drugs primarily comes from government allocations and patient-specific programs.

The current system faces challenges in affordability, sustainability and equitable access due to the high cost of many orphan medicines and limited budget allocations.

CURRENT POLICY LANDSCAPE

Appraising National Policy and Access to Orphan Drugs for Rare Disease Treatment in Malaysia – by Azwa

2017

2016

2015

2014

12 of 24

  • Orphan drugs are defined as a medicinal product that is primarily intended to treat, prevent or diagnose a rare disease as per the Malaysian Orphan Medicines Guideline, 2020, published by the Pharmaceutical Services Programme, Ministry of Health Malaysia. This guideline can be accessed via www.pharmacy.gov.my

  • This guideline will facilitate access to medicines required for the management of rare diseases in the context of the Ministry, based on a consensus list of rare diseases endorsed by the National Rare Disease Committee.

MALAYSIAN ORPHAN MEDICINES�GUIDELINE

Appraising National Policy and Access to Orphan Drugs for Rare Disease Treatment in Malaysia – by Azwa

13 of 24

NO.

ITEM

NORMAL

ORPHAN MEDICINES

1

Timeline for evaluation:

New chemical entities & biologic

245 working days

Priority review: 120 working days

2

Substantial efficacy and safety evidence

Phase III clinical data is required

Phase II clinical data may be acceptable

3

Protocol of analysis, and Certificate of Analysis

3 batches

at least 1 batch

4

Fees for GMP inspection

Foreign Manufacturer:

  • Processing fee : RM5K
  • Inspection fee : RM20K

Foreign Manufacturer:

  • Processing fee : waived
  • Inspection fee : waived

ORPHAN MEDICINES�DESIGNATION & REGISTRATION

Appraising National Policy and Access to Orphan Drugs for Rare Disease Treatment in Malaysia – by Azwa

14 of 24

https://npra.gov.my/images/2019/12/NCE/List_of_Approved_Orphan_Medicines_updated_March_2025.pdf

10 BIOLOGIC

12 NCE

MALAYSIAN REGISTERED �ORPHAN MEDICINES

Appraising National Policy and Access to Orphan Drugs for Rare Disease Treatment in Malaysia – by Azwa

15 of 24

COST OF ERT

(ENZYME REPLACEMENT THERAPY)

No.

Medicines

Rare diseases

Registered

Formulary

Est. Cost / year

MYR (USD) ±

1

Idursulfase 6mg Inj (Elaprase)

MPS II

750,000 (185,000)

2

Imiglucerase 400 units Inj (Cerezyme)

Gaucher

762,000 (187,000)

3

Laronidase 2.9mg Inj (Aldurazyme)

MPS I

500,000 (123,000)

4

Alglucosidase 50mg Inj (Myozyme)

Pompe

500,000 (123,000)

5

Elosulfase Alfa 5mg Inj (Vimizim)

MPS IVA

X

1,000,000 (246,000)

6

Galsulfase 5mg Inj (Naglazyme)

MPS VI

X

1,000,000 (246,000)

8

Agalsidase alfa/beta (Fabrazyme)

Fabry

X

1,000,000 (246,000)

Appraising National Policy and Access to Orphan Drugs for Rare Disease Treatment in Malaysia – by Azwa

16 of 24

HKL

Supply chain & distribution: HKL- centre for ERT

    • Some families have to move out from their state
    • Some patients have to commute >100-600km
    • Majority treatment every week (4/month)
    • Cost:
      • Direct cost of ERT
      • Indirect cost
        • Employment: salary, leave etc
        • Transportation, meals, time
        • Miss classes/education
    • Some not guarantee for the long term �(renew every 6 months)
    • Other supporting tools

CHALLENGES IN ACCESSING �ORPHAN MEDICINES

Appraising National Policy and Access to Orphan Drugs for Rare Disease Treatment in Malaysia – by Azwa

17 of 24

CHALLENGES IN ACCESSING �ORPHAN MEDICINES

18 of 24

Appraising National Policy and Access to Orphan Drugs for Rare Disease Treatment in Malaysia – by Azwa

Funding from the government for rare disease management �is definitely not enough. From the current economic climate, �there is nothing much that we can change

“Some of our patients received ERT from ICAP, pharmaceutical industries NGO and other local corporate companies.

However, this is just temporary and can end anytime.

19 of 24

Emotional & Financial Burden

Patients and their families face immense emotional distress and significant financial hardship due to the chronic nature of rare diseases and the high cost of treatment and ongoing care.

Strain on Healthcare Resources

The rarity and complexity of these conditions demand specialized expertise and resources, particularly in terms of training, equipment, and facility capacity.

Delayed Treatment

Delays in diagnosis and access to orphan drugs can lead to irreversible progression of the disease, resulting in poorer health outcomes and reduced quality of life

The challenges in rare disease treatment are impacting not just individual patients but also their families and the broader healthcare infrastructure.

Appraising National Policy and Access to Orphan Drugs for Rare Disease Treatment in Malaysia – by Azwa

IMPACT ON PATIENTS & �HEALTHCARE SYSTEM

20 of 24

Establish a Dedicated Orphan Drug Fund

Create a sustainable, ring-fenced national fund to ensure consistent �and predictable financing for the procurement of approved orphan medicines.

Strengthen Public-Private Partnerships

Foster collaborations between the government, pharmaceutical companies, �and patient advocacy groups to negotiate medicine prices and share the burden �of development and distribution.

Enhance Medical Professional Training

Implement specialized training programs for healthcare providers �to improve early diagnosis, appropriate management, and awareness of available �orphan medicine treatments.

Appraising National Policy and Access to Orphan Drugs for Rare Disease Treatment in Malaysia – by Azwa

KEY RECOMMENDATIONS FOR �POLICY ENHANCEMENT

21 of 24

Patient Advocacy Groups

Empower and support patient advocacy groups to voice patient needs, participate in policy discussions, and provide crucial peer support and information �to families.

International Collaboration

Engage with international rare disease organizations and research initiatives to share best practices, facilitate knowledge exchange, and potentially access broader clinical trials.

Academic & Research Institutions

Encourage universities and research institutions to focus on rare disease research, diagnostics, and novel therapeutic development, contributing to local expertise and innovation.

Pharmaceutical Industry

Work closely with the pharmaceutical industry to explore innovative pricing models, access programs, and partnerships that can make orphan drugs more accessible and affordable in Malaysia.

Appraising National Policy and Access to Orphan Drugs for Rare Disease Treatment in Malaysia – by Azwa

FOSTERING COLLABORATION �& SUPPORT NETWORKS

22 of 24

PATIENT ADVOCACY GROUP

Appraising National Policy and Access to Orphan Drugs for Rare Disease Treatment in Malaysia – by Azwa

23 of 24

It requires a concerted effort from policymakers, �healthcare providers, industry partners, and �patient advocates to build a robust and �compassionate healthcare system �that leaves no one behind.

Appraising National Policy and Access to Orphan Drugs for Rare Disease Treatment in Malaysia – by Azwa

Generally, Malaysia has made significant progress �in managing rare diseases in the last ten years.

�However, giving fair and equitable access to treatment �or orphan medicines are a huge challenge for �rare disease management

CONCLUSION: TOWARDS A BRIGHTER FUTURE

24 of 24

Thank you

Appraising National Policy and Access to Orphan Drugs for Rare Disease Treatment in Malaysia – by Azwa