this slide share will provide the information about orphan diseases and its management . this will give the introduction of orphan disease , what are drugs used for these diseases and how the diseases can be managed.

1. ORPHAN DISEASES AND ITS
MANAGEMENT
K.VISHNUPRIYA,
M.Pharm(pharmacology),
Ratnam institute of pharmacy,
Nellore.

2. INTRODUCTION
 WHO Defines Orphan/ rare disease are “ All pathogenic conditions are
affected by 0.65 – 1% out of every 1000 inhabitants”.
 The European organization – defines Orphan is one with prevalence of
5:10,000 Europeans.
 USA defines it is an aliment affecting fewer than 2,00,000 Americans.
 Australia defines it is an aliment affecting fewer than 2,000.
 India defines it is an aliment affecting fewer than 50,000 Indian patients.
Orphan drugs :
The drugs which used to treat Orphan diseases are called as Orphan
drugs.
Eg: Haem arginate – acute
Intermittent porphyria
Ibuprofen – dutus arteriosus

3. INTRODUCTION
Orphan drug law :
In 1984 United states promulgated the 1st law which is specially
designed to encourage R&D investments in areas usually neglected by
pharmaceutical companies.
 Subsequently other countries like Japan(1993), Australia(1998) and
European union(2000) have adopted similar laws.
 India follows the European laws
 The Orphan drug law depends on 2 criteria
1. Epidemiological criterion:
The product is aimed to cure or treat the disease with low prevalence
2. Economic criterion: Irrespective of disease prevalence, there is no
reasonable expectation R&D production cost will be recovered by sale
revenues in countries where the Orphan status is granted.

4. INTRODUCTION
Incentives of pharmaceutical companies:
1. Push mechanisms: these are incentives that operates upstream during
R&D process and involve costs to the public sector, such as tax credits and
research grants.
2. Pull mechanisms: these are incentives that operates downstream reward
the research output and offers public incentives for development of product.

5. Various orphan diseases
Name of Pathophysiology Age of % of Symptoms Management
the disease occurrence occurrence
1.Handigodu It is an inherited 10 yrs to 0.01% sever joint & hip no cure but
syndrome degenerative adult pains, dwarfism, pain manage-
osteoarthropathy deformation of - ment is
limbs available
2. Acromegaly it is characterized Adults 0.02% skeletal & soft tissue Octreotide,
by exaggerated growth deformities, Lanreotide,
somatic growth due teeth separation, wt Cabergoline,
to increased growth gain, fatigue & heat Pegvisomant
hormone secretion intolerance
in an adult after
the epiphysis

6. Various orphan diseases
Name of the Pathophysiology Age of % of Symptoms Management
Disease occurrence occurrence
3. Muscular it is rare inborn copper Weakness, muscle Glucocorticiods,
dystrophy storage disorder which All 0.02% atrophy& elevated physiotherapy
is characterized by levels of serum & gene therapy
progressive skeletal enzyme creatinine
muscle weakness. kinase
4. Grave
disease it is an autoimmune Adult 0.03% Hyper thyroidism, Anti thyroid
disease which affect Anti thyroid unusual drugs
affect thyroid gland intolerance to heat,
fatigue, wt loss &
protrusion of eye
balls

7. Various orphan diseases
Name of the Pathophysiology Age of % of Symptoms Management
disease occurrence occurrence
5.
osteopetrosis it is characterized All 0.04% in infants- life No cure is availa-
by increased bone threatening bone -ble but hemato-
mass, failure of marrow failure -poitic stem cell
osteoclats function in adults- bone transplantation,
as a result of fractures vit-D &
mutation in multi- erythropoietin for
-ple genes human symptomatic
relief
6. Porphyria it is most common All 0.04% Blisters, bullae, Antibiotics, 4-
cutenia tarda human porphyria increased fragility, aminoquinolines,
due to acquired scaring, hyper-hypo Iron chelating
deficient activity pigmentation of agents &
of hepatic UROD. Sun exposed areas erythropoietin
it catalyzes copro
porphyrinogen &
causes tissue
damage

8. Various orphan diseases
Name of Pathophysiology Age of % of Symptoms Management
the disease occurrence occurrence
7.
Myasthenia it is an autoimmune All 0.06% Diplopia, eye Cholinesterase
gravis neuromuscular lid moment, inhibitors,
junction disorder swallowing, corticosteroids
which is caused due fatigue & facial with immuno
to problems in trans expression modulators
-mission of nerve
signals to muscles
8.
Parkinson’s it is an progressive Elderly 0.5% tremors, brady Levodopa,
disease neuro-degenerative kinesia, gait & Carbidopa,
moment disorder muscular rigidity Dopamine
that impairs speech, Pramipexole
moment & others

9. Various orphan diseases
Name of Pathophyisiology Age of % of Symptoms Management
the disease occurrence occurrence
9. Rabies it is an infectious All 0.06% pains, parasthesia, cell culture
viral disease which fever, encephalitis, rabies
affects human, hydrophobia, vaccine
domestic & wild Aerophobia, photo
animals phobia & paralysis
10.
Alkaptonuria it is an autosomal Congenital 2% joint pains, black Nitisinone
recessive genetic sports appears in
disease. In which the whites of eyes,
patients inherit 2 pigmentation in
defective copies of ligament & tendons
a gene one from cardio vascular
each parent problems

10. Various orphan diseases
Name of the Pathophysiology Age of % of Symptoms Management
disease occurrence occurrence
11. Gaucher’s it causes due to Congenital 2% Hepatospleeno- enzyme
disease deficiency of - megaly replacement
glucocerebrosidase therapy &
enzyme which is surgical removal
responsible for of spleen&/liver
break down of part to improve
fatty substances affected person
called Gluco - comfort
- cerebrosides
12. Kyasanur it is an infectious Adult 5% chills, frontal no treatment
forest disease bleeding disease head ache, high is available
in monkey’s & fever, vomiting,
human caused by diarrhea, cough,
pathogenic virus sever pain in
called KFD virus neck & low back

11. Various orphan diseases
Name of the Pathophysiology Age of % of Symptoms Management
disease occurrence occurrence
13. Alpha-1- affected people Congenital 5% chronic obstructive Lung
antitrypsin have lack of alpha- pulmonary disease transplant
deficiency 1 antitrypsin protein less commonly
in their blood due cause liver damage
mutation of SERPINA-1 rarely skin disease
gene. It causes
uncontrolled neu-
-trophil elastage
activity.
14. Madras it is an molecular Adult NA patient look slender no treatment
motor neuron disease, in which facial & bulbar, is available,
disease the pathogenesis hearing loss due to IV Ig is
is unknown nerve defect & available
muscle bilateral
optic atrophy

12. Various orphan diseases
Name of the Pathophysiology Age of % of Symptoms Management
disease occurrence occurrence
15. Ebstein’s there is an Congenital 5% Dyspnea, atypical ACE inhibitors
anomaly embryological chest pain, fatigue, Ca2+ channel
malformation of anorexia, decreased blockers,
of tricuspid valve energy from cardiac beta-blockers
leaflets. So, that failure causes venous Diuretics,
there is incomplete congestion in stomach Digoxin
alignment of leaf
lets at AV junction
16. Ehler’s it is an inherited Congenital 8% hyper extensibility no drug is
danlos connective tissue of joints & skin, available but
syndrome disorder which vascular changes, life style
results impaired dental abnormalities modifications
formation & & pulmonary & surgery
integrity of alterations
collagen

13. Various orphan diseases
Name of the Pathophysiology Age of % of Symptoms Management
disease occurrence occurrence
17.Wilson’s it is an rare inborn Congenital 6% yellowing of skin & copper chelators,
disease copper storage eyes, loss of D-penicillamine
disorder which is appetite, fatigue,
characterized by the trembling, mood
presence of excess swings, difficulty
copper in liver, brain, in walking & speech
kidney & cornea problems
18.Tetralogy TOF arises from Congenital 8% hyperpnea, Nacortic
of fallot single genetic cyanosis, analgesics, PGs,
defect involving the syncope diuretics & beta
TBx gene, which blockers
encodes transcri-
-ption factor

14. Various orphan diseases
Name of Pathophysiology Age of % of Symptoms Management
the disease occurrence occurrence
19. Lupus it is an inflammatory All NA it can affect Anti-malarial
autoimmune disease any organ like drugs, NSAIDs
in which body’s heart, kidney’s, like Ibuprofen,
immune system attack blood vessels, steroids,
its own healthy tissues joints/skin, immuno -
& causes inflammation skin rashes, supressives
joint pains
20. Pulmonic it narrow the pulmonic Congenital NA difficult to
valvular valve & the group of 3 breath, chest valvuloplasty
stenosis leaflets separates right pain, fatigue,
ventricle from the right ventricular
pulmonary trunk hypertrophy &
hypoxemia