Orphan diseases and its management
- 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. Parkinsons 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. Gauchers 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 monkeys & 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. Ebsteins 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. Ehlers 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.Wilsons 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 bodys heart, kidneys, 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