This presentation highlights the global burden of various rare diseases affecting populations worldwide and emphasizes the crucial role of pharmacovigilance in their management. It outlines different types of rare diseases found across the world and explains how pharmacovigilance systems provide significant advantages by enabling easy, systematic, and timely reporting of adverse drug reactions. Through improved monitoring, data collection, and international collaboration, pharmacovigilance helps ensure patient safety, supports early detection of drug-related risks, and enhances the effective use of medicines in individuals suffering from rare diseases.

1. Pharmacovigilance
& Rare Diseases
Presented By :
Sahil Srivastava (Lecturer)
VIJAY PHARMACY COLLEGE
Gulalpur Jaunpur U.P.

2. Pharmacovigilance
& Rare Diseases
• Challenges of Monitoring Orphan Drugs with
Small Patient Populations

3. CONTENTS
Introduction
Importance of
Pharmacovigilance
Rare & Orphan
Facts about Rare
Diseases
Regulatory
Requirements
Rare Diseases
Challenges
Conclusion
Examples of Rare
Diseases
Innovative
Approaches
Reporting ADRs
Strategies

4. Introduction
• Pharmacovigilance is all about monitoring
the safety of medicines, especially crucial
for rare diseases where patient data is
limited and risks can be unique.
• Pharmacovigilance ensures the safety of
Orphan drugs used in rare diseases.
Monitoring is complex due to small patient
populations and limited data, requiring
tailored strategies for effective risk
management and regulatory compliance.

5. Rare Diseases
• Never seen before
• Unbelievable
• Unrecognized or
• Unusual
• When one comes to know
• that he or she is suffering from
• Something which is different kind of

6. Rare and Orphan
• Poorly Diagnosed
• Heavy cost of treatment
• Neglected
• Untreated
• Abandoned/Orphan

7. Facts about Rare Diseases
• Rare diseases: affect a small percentage of the population.
• Over 7,000 identified rare diseases worldwide, with more being
discovered each day.
• Many are genetic, chronic, and life-threatening.
• About 30 million people are living with RDs in United State alone.
• In India, there are nearly 7 crore people (1 in 20 Indians) affected
with a RD.
• Orphan drugs: developed specifically to treat rare diseases.

8. Examples of few Rare Disorders
GUILLIAIN-BARRE SYNDROME(GBS)
(A rare medical condition that affects the nerve outside the brain
and the spinal cord)

9. PRECOCIOUS OR EARLY
PUBERTY
(Onset of secondary sexual characteristics in children at an
age that is two standard deviations younger than the mean age
of pubertal onset)
HARLEQUIN BABY
(A genetic disorder baby does not have external skin and has
several internal organ missing)

10. PROGERIA
(It is an extremely rare genetic disorder in which symptoms
resembling aspect of aging are manifested at a very early age)
DYSLEXIA
(Most common learning disability in children and persists
throughout the life)
AMNESIA
(Loss of memories such as facts, information and experiences,
accidental cases, injuries in brain)

11. Importance of
pharmacovigilance for
Orphan drugs
Limited clinical trial data due to small
.
patient numbers
High unmet medical needs and urgency for
treatments
-
Post marketing surveillance is crucial for
safety monitoring due to small patient
.
number
• Helps detect rare or unexpected adverse
( )
drug reactions ADRs

12. Challenges
• Small patient populations limit statistical power or limited data .
• Difficult to detect rare or long-term ADRs though Delayed Diagnosis.
• Lack of control groups in clinical studies
• Geographically dispersed patients (Heterogeneity).
• Limited healthcare professional awareness
• Underreporting
• Regulatory agencies may have limited experience in evaluating safety data for drugs
treating rare diseases, requiring specialized expertise and flexible regulatory
frameworks.

13. Regulatory requirements and standards for orphan drugs
• ( . ., <200,000 ; ≤5
Disease must be rare e g people in the US in
10,000 ; ≤5 ).
in EU lakh people in India
• , - ,
Must address a serious life threatening or chronically debilitating
.
condition
• –
Must show high unmet medical need no satisfactory treatment
, .
exists or the new drug provides signif i
cant benef i
t
• , ,
Sponsor must submit epidemiological data scientific rationale
.
and development plan
• - .
Subject to post marketing pharmacovigilance and safety reporting

14. es
Robust post-marketing surveillance- (continuous monitoring after approval due to small trial
populations).
Patient registries & databases- (Collect real-world safety and efficacy data from rare disease
patients).
Global collaboration- (sharing safety data across countries to overcome limited patient numbers).
Risk management plans (RMPs)- (Proactive identification and minimization of drug-related risks).
Real-world evidence (RWE) & observational studies- (supplement limited clinical trial data).
Active patient & caregiver reporting- (encouraging direct adverse event reporting to capture rare
signals).
Use of digital health tools- (mobile apps, e-reporting systems, and AI to detect safety issues faster).

15. Steps for Reporting ADRs in Pharmacovigilance
Programme in India (PVPI)
1. Detection of ADRs
2. Documentation
3. Reporting Channel (via Toll-free helpline (1800-180-3024), PvPI mobile app, or
email.)
4. Submission Point (Adverse Drug Reaction Monitoring Centre (AMC) under PvPI.)
5. Data entry and Assessment (AMC validates and enters data into VigiFlow (WHO
global database).
6. Review and Signal detection (Reports analyzed at National Coordinating Centre
(NCC-PvPI, IPC Ghaziabad).
7. Regulatory Action (Drugs Controller General of India (DCGI).

16. Innovative approaches and
tools for effective monitoring
Emerging technologies like
Big data analytics, patient
registries, and real-world
evidence improve
pharmacovigilance accuracy
and timeliness in rare
diseases.

17. Conclusions
• Pharmacovigilance in rare diseases
is essential to detect, assess, and
prevent adverse drug reactions for
patient safety.
• Strengthening ADR reporting through
PvPI ensures safer therapies and
better healthcare outcomes.

18. Thank You!!