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Tiêu đề Discovery and development of drugs
Chuyên ngành Clinical Pharmacology
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Năm xuất bản 2003
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Discovery and development of drugs SYNOPSIS • Preclinical drug development.. Preclinical drug development Pharmacology and medicinal chemistry have transformed medicine from an intellect

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Discovery and development of

drugs

SYNOPSIS

• Preclinical drug development Discovery of

new drugs in the laboratory is an exercise in

prediction

• Techniques of discovery Sophisticated

molecular modelling allows precise design of

potential new therapeutic substances and

new technologies have increased the rate of

development of potential medicines.

• Studies in animals and in humans

• Prediction Failures of prediction occur and a

drug may be abandoned at any stage,

including after marketing New drug

development is a colossally expensive and

commercially driven activity.

• Orphan drugs and diseases.

Preclinical drug

development

Pharmacology and medicinal chemistry have transformed

medicine from an intellectual exercise in diagnosis into a

powerful force for the relief of human disease (CT Dollery

1994)'

The development of new medicines (drugs) is an

exercise in prediction from laboratory studies in

vitro and in vivo (animals), which forecast what

the agent will do to man Medicinal therapeutics rests on the two great supporting pillars of pharmacology:

• Selectivity: the desired effect alone is obtained; 'We must learn to aim, learn to aim with chemical substances' (Paul Ehrlich).2

• Dose:' The dose alone decides that something

is no poison' (Paracelsus).3 For decades the rational discovery of new medicines has depended on modifications of the molecular structures of increasing numbers of known natural chemical mediators Often the exact molecu-lar basis of drug action is unknown, and this book contains frequent examples of old drugs whose

1 In this chapter we are grateful for permission from Professor Sir Colin Dollery to quote directly and indirectly from his Harveian Oration, 'Medicine and the

pharmacological revolution' (1994) Journal of the Royal College of Physicians of London 28: 59-69.

2 Paul Ehrlich (1845-1915), German scientist who pioneered the scientific approach to drug discovery The 606 th organic arsenical that he tested against spirochaetes (in animals) became a successful medicine (Salvarsan 1910); it and a minor variant were used against syphillis until superseded

by penicillin in 1945.

3 Paracelsus (1493-1541) was a controversial figure who has been portrayed as both ignorant and superstitious He had

no medical degree; he burned the classical medical works (Galen, Avicenna) before his lectures in Basel (Switzerland) and had to leave the city following a dispute about fees with

a prominent churchman He died in Salzburg (Austria) either

as a result of a drunken debauch or because he was thrown down a steep incline by 'hitmen' employed by jealous local

physicans But he was right about the dose.

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3 D I S C O V E R Y A N D D E V E L O P M E N T O F D R U G S

mechanism of action remains mysterious The

evol-ution of molecular medicine (including recombinant

DNA technology) in the past 20 years has led to a

new pathway of drug discovery: pharmacogenomics 4

This broad term encompasses all genes in the

genome that may determine drug response, desired

and undesired Completion of the Human Genome

Project in 2001 has yielded a minimum of 30 000

potential drug targets, although the function of

many of these genes remains unknown In the future,

drugs may be designed according to individual

genotypes, thereby to enhance safey as well as

efficacy

The chances of discovering a truly novel

medicine, i.e one that does something valuable that

had previously not been possible (or that does

safely what could only previously have been

achieved with substantial risk), are increased when

the development programme is founded on precise

knowledge, at molecular level, of the biological

processes it is desired to change The commercial

rewards of a successful product are potentially

enormous and provide a massive incentive to

developers to invest and risk huge sums of money

Studies of signal transduction, the fundamental

process by which cells talk to one another as

intracellular proteins transmit signals from the

surface of the cell to the nucleus inside, have

opened an entirely new approach to the

development of therapeutic agents that can target

discrete steps in the body's elaborate pathways of

chemical reactions The opportunities are endless.5

The molecular approach to drug discovery should

enable a 'molecular dissection' of any disease

pro-cess There are two immediate consequences:

• More potential drugs and therapeutic targets

will be produced than can be experimentally

validated in animals and man A further risk is

that this 'production line' approach could lead to

a loss of integration of the established specialities

4 An example of the opportunity created by

pharmacogenomics comes in the announcement by a major

pharmaceutical company of plans to search the entire human

genome for genetic evidence of intolerance to one of its

drugs If achieved, adverse reactions to the drug would be

virtually eliminated.

5 Culliton B J 1994 Nature Medicine 1:1

(chemistry, biochemistry, pharmacology), and

an overall lack of understanding of how physiological and pathophysiological processes contribute to the interaction of drug and disease

• New drugs could be targeted at selected groups

of patients based on their genetic make-up This concept of 'the right medicine for the right

patient' is the basis of pharmacogenetics (see p 122),

the genetically determined variability in drug response Pharmacogenetics has gained momen-tum from recent advances in molecular genetics and genome sequencing, due to:

• Rapid screening for specific gene polymorphisms (see p 122)

• Knowledge of the genetic sequences of target genes such as those coding for enzymes, ion channels, and other receptor types involved in drug response

The expectations of pharmacogenetics and its

progeny, pharmacoproteomics (understanding of and

drug effects on protein variants), are high They include:

• Identification of subgroups of patients with a disease or syndrome based on their genotype

• Targeting specific drugs for patients with specific gene variants

Consequences of these expectations include: smaller clinical trial programmes, better under-standing of the pharmacokinetics and dynamics according to genetic variation, simplified monitor-ing of adverse events after marketmonitor-ing A great challenge will be to determine the function of each polymorphic gene (or gene product) and whether it has pharmacological or toxicological importance Some of the expectations for both pharmaco-genomics and pharmacogenetics have been exagg-erated: at the least, the timescale over which the expectations may be realised is longer than first thought

Nevertheless, exploitation of the new tech-nologies will create more potential medicines, and more doctors will become involved in clinical testing; it is expedient that they should have some acquaintance with the events and processes that precede their involvement

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Sources of compounds

Chemical libraries

Historical compound collections

Natural product libraries

Combinatorial libraries

Rational synthesis

Antisense oligonucleotides

Therapeutic targets

Traditional medical uses of natural products

Empirical understanding of physiology and pathology

Molecular cloning of receptors and signalling molecules

Genomics

Drug discovery screening assays

Lead optimisation and candidate selection

Drug development

Fig 3.1 Drug discovery sources in context Different types of chemical compounds (top left) are tested against bioassays that are relevant

to therapeutic targets, which are derived from several possible sources of information (right).The initial lead compounds discovered by the screening process are optimised by analogue synthesis and tested for appropriate pharmacokinetic properties.The candidate compounds then enter the development process involving regulatory toxicology studies and clinical trials.

New drug development proceeds thus:

• Idea or hypothesis

• Design and synthesis of substances

• Studies on tissues and whole animal (preclinical

studies)

• Studies in man (clinical studies) (see Chapter 4)

• Grant of an official licence to make therapeutic

claims and to sell (see Chapter 5)

• Postlicensing (marketing) studies of safety and

comparisons with other medicines

It will be obvious from the account that follows

that drug development is an extremely arduous,

highly technical and enormously expensive

oper-ation Successful developments (1% of compounds

that proceed to full test eventually become licensed

medicines) must carry the cost of the failures

(99%).6 It is also obvious that such programmes are

likely to be carried to completion only when the

organisations and the individuals within them

are motivated overall by the challenge to succeed

and to serve society, as well as to make money

TECHNIQUES OF DISCOVERY

(see Figure 3.1)

The newer technologies, the impact of which have yet

to be fully felt include:

6 The cost of development of a new chemical entity (NCE) (a novel molecule not previously tested in humans) from synthesis to market (general clinical use) is estimated at US$ 500 million; the process may take as much as 15 years (including up to 10 years of clinical studies), which is relevant to duration of patent life and so to ultimate profitability; if the developer does not see profit at the end of the process, the investment will not be made The drug may fail at any stage, including the ultimate, i.e at the official regulatory body after all the development costs have been incurred It may also fail (due to adverse effects) within the first year after marketing, which constitutes a catastrophe (in reputation and finance) for the developer as well as for some

of the patients.

Pirated copies of full regulatory dossiers have substantial black market value to competitor companies who have used them to leap-frog the original developer to obtain a licence for their unresearched copied molecule Dossiers may be enormous, even one million pages or the electronic equivalent, the latter being very convenient as it allows instant searching.

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3 D I S C O V E R Y A N D D E V E L O P M E N T O F D R U G S

Molecular modelling aided by three-dimensional

computer graphics (including virtual reality) allows

the design of structures based on new and known

molecules to enhance their desired, and to eliminate

their undesired, properties to create highly selective

targeted compounds In principle all molecular

structures capable of binding to a single

high-affinity site can be modelled

Combinatorial chemistry involves the random

mixing and matching of large numbers of chemical

building blocks (amino acids, nucleotides, simple

chemicals) to produce 'libraries' of all possible

combinations This technology can generate billions

of new compounds that are initially evaluated

using automated robotic high-throughput screening

devices that can handle thousands of compounds a

day.7 These screens utilise radio-labelled ligand

displacement on single human receptor subtypes or

enzymes on nucleated (eukaryotic) cells If the

screen records a positive response the compound is

further investigated using traditional laboratory

methods, and the molecule is manipulated to

enhance selectivity and/or potency (above)

Proteins as medicines: biotechnology The targets

of most drugs are proteins (cell receptors, enzymes)

and it is only lack of technology that has hitherto

prevented the exploitation of proteins (and

pep-tides) as medicines This technology is now

avail-able But there are great practical problems in

getting the proteins to the target site in the body

(they are digested when swallowed and cross cell

membranes with difficulty)

Biotechnology involves the use of recombinant

DNA technology/genetic engineering to clone and

7 'It is too early to say what success these programmes may

have but automation of assays, possibly coupled to similar

automation of syntheses, promises to speed up the search for

new leads which is the rate-limiting step in the introduction

of really novel therapeutic agents Their value in medicine

will depend upon the significance of the control mechanism

concerned in the pathogenesis of a disease process Critics

fear that the result may well be large numbers of drugs in

search of a disease to treat' (CT Dollery, ibidem) The

demand for competent clinical trialists, already great, will

increase to meet the demand; the financial rewards to

competent (and honest) clinical trialists are great, in the

competitive world of drug introduction (see also McNamee

D 1995 Lancet 345:1167).

express human genes, for example, in microbial,

Escherichia coll or yeast, cells so that they

manu-facture proteins that medicinal chemists have not been able to synthesise; they also produce hor-mones and autacoids in commercial amounts (such

as insulin and growth hormone, erythropoietins, cell growth factors and plasminogen activators, interferons, vaccines and immune antibodies)

Transgenic animals (that breed true for the gene) are

also being developed as models for human disease

as well as for production of medicines

The polymerase chain reaction (PCR) is an

alterna-tive to bacterial cloning This is a method of gene amplification that does not require living cells; it takes place in vitro and can produce (in a cost-effective way) commercial quantities of pure poten-tial medicines

Genetic medicines Synthetic oligonucleotides are

being developed to target sites on DNA sequences

or genes (double strand DNA: triplex approach) or messenger RNA (the antisense approach) so that the production of disease-related proteins is blocked These oligonucleotides offer prospects of treatment for cancers and viruses without harming healthy tissues.8

Gene therapy of human genetic disorders is 'a

strategy in which nucleic acid, usually in the form

of DNA, is administered to modify the genetic repertoire for therapeutic purposes', e.g cystic fibrosis The era of "the gene as drug" is clearly upon us' (R G Crystal) Significant problems remain; in particular the methods of delivery Three methods are available: an injection of 'naked' DNA; using a virus as carrier with DNA incorporated into its genome; or DNA encapsulated within a liposome

Immunopharmacology Understanding of the

mol-ecular basis of immune responses has allowed the definition of mechanisms by which cellular func-tion is altered by a legion of local hormones or autacoids in, for example, infections, cancer, auto-immune diseases, organ transplant rejection These processes present targets for therapeutic inter-vention Hence the rise of immunopharmacology

8 Cohen J S, Hogan M E 1994 The new genetic medicines Scientific American (Dec): 50-55.

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Positron emission tomography (PET) allows

non-invasive pharmacokinetic and pharmacodynamic

measurements in previously inaccessible sites, e.g

the brain in intact humans and animals

Older approaches to discovery of new medicines

that continue in use include:

• Animal models of human disease or an aspect of it

of varying relevance to man

• Natural products, the basis for many of today's

medicines for pain, inflammation, cancer,

cardiovascular problems Modern technology for

screening has revived interest and intensified the

search by multinational pharmaceutical

companies which scour the world for leads from

microorganisms (in soil or sewage or even from

insects entombed in amber 40 million years ago),

from fungi, plants and animals Developing

countries in the tropics (with their luxuriant

natural resources) are prominent targets in this

search and have justly complained of

exploitation ('gene robbery') Many now require

formal profit-sharing agreements to allow such

searches

• Traditional medicine, which is being studied for

possible leads to usefully active compounds

• Modifications of the structures of known drugs; these

are obviously likely to produce more agents

having similar basic properties, but may deliver

worthwhile improvements It is in this area that

the much-complained-of, me-too and me-again

drugs are developed (sometimes purely for

commercial reasons)

• Random screening of synthesised and natural

products

• New uses for drugs already in general use as a result

of intelligent observation and serendipity,9 or

advancing knowledge of molecular mechanisms,

e.g aspirin for antithrombosis effect

DRUG QUALITY

It is easy for an investigator or prescriber, interested

in pharmacology, toxicology and therapeutics, to

9 Serendipity is the faculty of making fortunate discoveries

by general sagacity or by accident: the word derives from a

fairy tale about three princes of Serendip (Sri Lanka) who

had this happy faculty.

forget the fundamental importance of chemical and pharmaceutical aspects An impure, unstable drug

or formulation is useless Pure drugs that remain pure drugs after 5 years of storage in hot, damp climates are vital to therapeutics The record of manufacturers in providing this is impressive

Preclinical studies in animals10

In general, the following tests are undertaken:

Pharmacodynamics: to explore actions relevant to

the proposed therapeutic use, and other effects at a range of doses

Pharmacokinetics: to discover how the drug is

distributed in and disposed of by, the body

Toxicology: to see whether and how the drug

causes injury (in vitro tests and intact animals) in:

— single-dose studies (acute toxicity)

— repeated-dose studies (subacute, intermediate, and chronic or long-term toxicology)

General toxicology studies are performed in two species, usually a rodent and dog Regulatory requirements differ around the world but signifi-cant alignment has been made Single and repeat dose study requirements are given in Tables 3.1 and 3.2 The dosing regimens are selected to produce a range of plasma concentrations, the highest of which will be several times greater than that achieved in man

Special toxicology involves areas in which a

particularly horrible drug accident might occur on

a substantial scale; all involve interaction with genetic material or its expression in cell division

Mutagenicity (genotoxicity) tests are designed

to identify compounds that may induce genetic damage A standard battery of tests is conducted and include:

• A test for gene mutation in bacteria, e.g Ames test

10 Mouse, rat, hamster, guinea pig, rabbit, cat, dog, monkey

(not all used for any one drug).

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3 D I S C O V E R Y A N D D E V E L O P M E N T O F D R U G S

TABLE 3 1 Single and repeated dose toxicity requirements

to support studies in healthy normal volunteers (Phase 1) and

in patients (Phase 2) in the European Union (EU), and Phases I,

2 & 3 the USA and Japan I

Duration of clinical trial Minimum duration of

repeated dose toxicity studies

Rodents Non-rodents

Single dose

Up to 2 weeks

Up to 1 month

Up to 3 months

Up to 6 months

>6 months

2 weeks 2

2 weeks

1 month

3 months

6 months

6 months

2 weeks

2 weeks

1 month

3 months

6 months chronic 3

'In Japan, if there are no Phase 2 clinical trials of equivalent

duration to the planned Phase 3 trials, conduct of longer duration

toxicity studies is recommended as given in Table 3.2.

2 ln the USA, specially designed single dose studies with extended

examinations can support single dose clinical studies.

3 Regulatory authorities may request a 12-month study or accept a

6-month study, determined on a case-by-case basis.

See p 56 for a description of a clinical trial.

TABLE 3.2 Repeated dose toxicity requirements to

support Phase 3 studies in the EU, and marketing in all

regions '

Duration of clinical trial

Up to 2 weeks

Up to 1 month

Up to 3 months

>3 months

Minimum duration of repeated dose toxicity studies

Rodents Non-rodents

1 month

3 months

6 months

6 months

1 month

3 months

3 months Chronic 2

'When a chronic non-rodent study is recommended if clinical use

> I month.

2 Regulatory authorities may request a 12-month study or accept a

6-month study, determined on a case-by-case basis.

• An in-vitro test with cytogenetic evaluation of

chromosomal damage with mammalian cells or

an in-vitro mouse lymphoma thymidine kinase

(tK) assay

• An in-vivo test for chromosomal damage using

rodent haematopoietic cells

Usually the first two tests are performed before

human exposure, but all must be complete prior

to Phase II studies Additional tests may be

required

Definitive carcinogenicity (oncogenicity) tests

are often not required prior to the early studies in

man unless there is serious reason to be suspicious

of the drug, e.g if the mutagenicity test is unsatis-factory; the molecular structure, including likely metabolites in man, gives rise to suspicion; or the histopathology in repeated-dose animal studies raises suspicions

Full scale (most of the animal's life) carcino-genicity tests will generally be required only if the drug is to be given to man for above one year, or

it resembles a known human carcinogen, or it is mutagenic (in circumstances relevant to human use) or it has major organ-specific hormonal agonist action

It may be asked why any novel compound should be given to man before full-scale formal carcinogenicity studies are completed The answers are that animal tests are uncertain predictors,11 that such a requirement would make socially desirable drug development expensive to a seriously detri-mental degree, or might even cause potentially valuable novel ventures to cease For example, tests would have to be done on numerous compounds that are eventually abandoned for other reasons This may seem right or wrong, but it is how things are at present

Toxicology testing of biotechnology-derived phar-maceuticals The standard regimen of toxicology

studies is not appropriate for biotechnology-derived pharmaceuticals The choice of species used will depend on the expression of the relevant receptor If no suitable species exists, homologous proteins or transgenic animals expressing the human receptor may be studied Additional immunological studies are also required, and the genotoxicity and carcinogenicity studies are modified

Reproduction studies have to be extensive because

of the diversity of physiological processes that may

be affected, and because the consequences of error

in this field are potentially horrific Tests include

11 A sardonic comment on the relevance for man or carcinogenicity tests in animals was made by investigators who induced cancer in animals using American 'dimes' (10 cent coin) and the plastic of credit cards They advised the US Government to consider banning money as unsafe for humans (Moore GE et al 1977 Journal of the American Medical Association 238: 397)

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effects on fertility, reproductive performance, fetal

organogenesis, and peri- and postnatal

develop-ment Studies are in mammals, usually the rat

Embryo-fetal development studies are conducted in

a non-rodent, usually the rabbit Later development

studies include growth, behaviour and intellectual

function of progeny, and their fertility (second

generation effects)

Local tolerability studies In most acute and

repeat dose studies, the test drug is administered by

the oral route Additional studies are required when

the clinical route of administration is parenteral

There are two objectives First, to determine if the

drug is absorbed in sufficient quantities, e.g by

inhalation, and second to test for local tolerability,

e.g by the percutaneous or intravenous routes

It is plain that all the above tests constitute a

major laboratory exercise requiring great and

diverse scientific skills and significant financial

resource

ETHICS 12

No one will read the above scheme with

satis-faction and some people will read it with disgust

Experienced toxicologists point out that:

The majority of toxicity tests (which particularly

are subject to ethical criticism) are firmly based on

studies in whole animals, because only in them is it

possible to approach the complexity of organisation

of body systems in humans, to explore any

consequences of variable absorption, metabolism

and excretion, and to reveal not only direct toxic

effects but also those of a secondary or indirect

nature due to induced abnormalities in integrative

mechanisms, or distant effects of a toxic metabolite

produced in one organ that acts on another.13

The use of animals would be totally unjustified if

results useful to man could not be obtained In

12 An admirable discussion of the issues will be found in

Paton W 1984 Man and mouse Oxford, London and in

Zbinden G 1990 Alternatives to animal experimentation.

Trends in Pharmacological Sciences 11:104

13 Brimblecome R W, Dayan A D 1993 In: Burley D M, Clarke

J M, Lasagna L (eds) Pharmaceutical Medicine Arnold,

London

many known respects animals are similar to man, but in many respects they are not Increasingly, the low-prediction tests are being defined and eliminated It will be a long time before in-vitro tests become sufficiently robust to eliminate the need for tests in whole animals, but we welcome the progress that is being made towards this end The incentive to eliminate whole animal tests is not only ethical, it is economic, for whole animals are very expensive to breed and house and keep in health The European Union instructs researchers to choose non-(whole) animal methods if they are 'scientifically satisfactory [and] reasonably and practically available'

Prediction

It is frequently pointed out that regulatory guidelines are not rigid requirements to be universally applied But whatever the intention, they do tend to be treated

as minimum requirements if only because research directors fear to risk holding up their expensive coordinated programmes with disagreements that result in their having to go back to the laboratory, with consequent delay and financial loss

Knowledge of the mode of action of a potential

new drug obviously greatly enhances prediction from animal studies of what will happen in man Whenever practicable such knowledge should be obtained; sometimes this is quite easy, but some-times it is impossible Many drugs have been intro-duced safely without such knowledge, the later acquisition of which has not always made an im-portant difference to their use, e.g antimicrobials Pharmacological studies are integrated with those

of the toxicologist to build up a picture of the undesired as well as the desired drug effects

In pharmacological testing the investigators know

what they are looking for and choose the experi-ments to gain their objectives

In toxicological testing the investigators have less

clear ideas of what they are looking for; they are screening for risk, unexpected as well as predicted, and certain major routines must be done Toxicity testing is therefore liable to become mindless routine to meet regulatory requirements to a greater extent than are the pharmacological studies The

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3 D I S C O V E R Y A N D D E V E L O P M E N T O F D R U G S

predictive value of special toxicology (above) is

particularly controversial

All drugs are poisons if enough is given and the

task of the toxicologist is to find out whether, where

and how a compound acts as a poison to animals,

and to give an opinion on the significance of the

data in relation to risks likely to be run by human

beings This will remain a nearly impossible task

until molecular explanations of all effects can be

provided Toxicologists are in an unenviable position

When a useful drug is safely introduced they are

considered to have done no more than their duty

When an accident occurs they are invited to explain

how this failure of prediction came about When

they predict that a chemical is unsafe in a major

way for man, this prediction is never tested

CONCLUSION ON PRECLINICAL

TESTING

As drugs are developed and promoted for

long-term use in more and relatively trivial conditions,

e.g minor anxiety, and affluent societies become

less and less willing to tolerate small physical or

mental discomforts, the demand for and the supply

of new safer medicines will continue to increase

Only profound knowledge of molecular mechanisms

will reduce risk in the introduction of new drugs

Occasional failures of prediction are inevitable,

with consequent public outcry

Limited resources of scientific manpower and

money will not be used to the best advantage if the

public shock over thalidomide (p 81) and

subsequent events is allowed to express itself in

governmental regulations requiring a plethora of

expensive tests (and toxicity testing is very

expensive), many of them of dubious meaning for

anything other than the animal concerned Such a

policy would prevent industrial laboratories from

devoting resources to investigation of molecular

mechanisms of drug action, in the knowledge of

which alone lies health with safety

When the preclinical testing has been completed

to the satisfaction of the developer and of the

national or international regulatory agency, it is

time to administer the drug to man and so to launch

the experimental programme that will decide

whether the drug is only a drug or whether it is also

a medicine This is the subject of the next chapter

Orphan drugs and diseases

A free market economy is liable to leave untreated, rare diseases, e.g some cancers (in all countries) and some common diseases, e.g parasitic infections (in poor countries)

Where a drug is not developed into a usable medicine because the developer will not recover the costs then it is known as an orphan drug, and the disease is an orphan disease; the sufferer is a health orphan.14 Drugs for rare diseases inevitably must often be licensed on less than ideal amounts of clinical evidence

The remedy for these situations lies in govern-ment itself undertaking drug developgovern-ment (which

is likely to be inefficient) or in government-offered incentives, e.g tax relief, subsidies, exclusive mar-keting rights, to pharmaceutical companies and,

in the case of poor countries, international aid pro-grammes; such programmes are being imp-lemented.15

GUIDETO FURTHER READING

Banks R E et al 2000 Proteomics: new perspectives, new biomedical opportunities Lancet 356:1749-1756 Beeley N, Berger A 2000 A revolution in drug discovery: combinatorial chemistry still needs logic to drive science forward British Medical Journal 321:581-582 Black J W 1986 Pharmacology: analysis and

exploration British Medical Journal 293: 252 Crystal R G 1995 The gene as a drug Nature Medicine 1:15

Di Masi J A1995 Success rates for new drugs entering clinical testing in the United States Clinical Pharmacology and Therapeutics 58:1

14 The cost of treating a patient having the rare genetic Gaucher's liposome storage disease with genetically engineered enzyme is US$ 145 000 to 400 000 per annum according to severity Who can and will pay? More such situations will occur.

15 Official recognition of orphan drug status is accorded in the

USA (pop 240 million) where the relevant disease affects fewer than 200,000 people; in Japan (pop 121 million) for fewer than 50,000 people.

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Dollery C T 1999 Drug discovery and development in

the molecular era British Journal of Clinical

Pharmacology 47: 5-6

Fears R, Robert D, Poste G 2000 Rational or rationed

medicine? The promise of genetics for improved

clinical practice British Medical Journal 320: 933

Gale E A M 2001 Lessons from the glitazones: a story

of drug development Lancet 357:1870-1875

Graeme-Smith D G 1999 How will knowledge of the

human genome affect drug therapy? British

Journal of Clinical Pharmacology 47: 7-10

Lachmann P 1992 The use of animals in research

British Medical Journal 305:1

Lasagna L1982 Will all new drugs become orphans?

Clinical Pharmacology and Therapeutics 31: 285

Meyer B R1992 Biotechnology and therapeutics: Experimental treatments and limited resources Clinical Pharmacology and Therapeutics 51: 359 Roses A D 2000 Pharmacogenetics and future drug development and delivery The Lancet 355: 1358-1361

Smith A E 1999 Gene therapy — where are we? Lancet

354 (suppl 1): stl-4 Sykes R 1998 Being a modern pharmaceutical company British Medical Journal 317:1172 Wolf R C, Smith G, Smith R L 2000 Pharmacogenetics British Medical Journal 320: 987-990

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