POSITION PAPER
ON RARE DISEASESEUROPEAN AND ITALIAN a realistic hope of recovery.
REGULATORY AND
Studying a molecule will not itself lead to the
LEGISLATIVE FEATURES approval of an orphan medicinal product. First

economistic calculations, applied by regional,
provincial and hospital-trust authorities, limit ordelay its use, especially as regards adults afflicted

The elimination of the regional-based accessby rare diseases.

authorised by the Italian Medicines Agency prior

it is necessary to understand how the disease

Access to therapy: the importance ofaccessibility for rare disease patients,
and pertinent legislation

process for orphan medicinal products andproducts with orphan medicine characteristics
to Regulation (EC) no. 141/2000 (commonly called

works and, precisely for this reason, the companies
in this sector are engaged in studying anddocumenting rare diseases and, consequently,

Many months (from 9 to 12) can elapse from“orphan-like medicines”), could overcome

diagnosis by a reference centre to the dispensation of a medicine, assuming one is available.

these disparities.

also their diagnosis.

Moreover, a prescribed treatment may, in someTo surmount some regulatory-related problems

cases, be deemed illegitimate.

it would help if the 100-day deadline for conclu-

A rare disease is a disease with an incidence offewer than 5 cases per 10,000 persons.

Specific therapy only exists for slightly more thanRare diseases number between 5,000 and 8,000

100 of these diseases.

worldwide and mainly affect children who accountding reimbursability andThis represents a major disparity in treatment

price procedure (known as

between persons affected by the samethe "Hundred-day procedure")for between 50% and 75% of all patients.

As rare-disease patients must have immediaterare disease and the same level ofintroduced for orphan medicinal

The rarity of such diseases is often a complicating

access to rare-disease therapies that often

severity, for whom access to an appro-

products and medical products of exceptional

factor in the research for pharmaceutical treatments.

constitute the only available treatment, such

ved therapy is simply based upon thetherapeutic importance were observed.

access represents a non-deferable right.

region in which they live. In

Since the last IQVIA analysis it now emerges that

other cases, the provision of

in Italy, between 2015 and 2018, an average of 458

Therefore, whatever hinders the exercise oftherapy encounters bureaucratic

this right adversely affects both patients

problems and may arrive too latedays elapsed between European marketing
authorisation and actual access to a medicine.

Therefore, news of a medicine that can

finally treat a rare disease is always
greeted with unforgettable emotion among rare-disease patientsand their families.

who have had, often since birth, tocoexist with the pathology.
Such treatment, by removing the sufferingand limits frequently determined by rare diseases,
is a first step toward a better quality of life.
And sometimes "this" new treatment can offer

Unfortunately, access to pharmacologicaltherapies, authorised nationally by the Italian Medicines Agency is not equally and/or not
promptly accessible throughout the entire
country. The reason is to be found in the purely| 2 |for patients. In addition, lifesaving
therapy may be suspended because a hospital

Nevertheless, our country has produced somelacks the necessary resources. Such differences

important tools (such as Parliamentary Acts nos.

cause rare-disease patients to migrate from648/96 and 326/03) that, in given situations, faci-

one city to another or from one region to anotherlitate timely access to medicinal products thatin search of a therapy.

otherwise would not be available nationwide forthe treatment of rare diseases.

| 3 |However, some of these measures were notof our Constitution, for those patients for whom

all references to Parliamentary Act no. 648/96,

products that completed their reimbursability

originally intended to meet needs and problems

treatment with other therapies is inappropriate.

thereby ensuring that all medicinal products au-

and pricing process before Regulation (EC)thorised by the Italian Medicines

No. 141/2000 (commonly called orphan-like
medicines) came into force.

specific to rare diseases (such as for example Act
no. 648/96) and, moreover, may instead lead to

However, the bill before Parliament requires

Agency for the treatment of rare

longer access times.

some clarification. As also pointed out by the Ita-

diseases can be made available

lian Medicines Agency, the current wording of theby the regions regardless of

Heightening the awareness of the Social Affairs

Targeted measures are required. The Social

measure lends itself to misunderstanding as con-Committee of the Chamber of Deputies on the

Affairs Committee of the Chamber of Deputies

cerns the part specifying that the orphan medici-whether or not they are included in hospital formularies

has recently begun scrutinising the consoli-

nes benefitting from this clause, are to beor similar lists.

bill designed to sustain research and production

dated text of a bill designed to sustain researchand production for orphan medicinal products

inserted in a special section of the list referred toas well as healthcare for rare diseases (TU C. 164

However, this list serves

and abb.).

other purposes (innova-

Making the Italian Medicines Agency aware ofThis is an important indication of a renewed

tive medicinal products

the importance of complying with theinterest in rare diseases while the bill itself

whose marketing is

100-day deadline for concluding the reim-contains relevant provisions to facilitate patients’authorised in otherbursability and pricing process as laid down foraccess to medicines. Above all, it includes a pro-Member States but

orphan medicinal products and medical products

vision (Article 5, subsection 3) stipulating that thenot on a national scale;of exceptional therapeutic importance.

orphan medicines included within a schedule ofmedicinal products not yet authorised but subjected

the existing Parliamentary Act no. 648/96 should

to clinical trials; medicinal products to be used

Raising the awareness of both the Parliament

be immediately available, whether or not included

for an indication different from that authorised)

and the Health Ministry about the need toin local authorities’ hospital formularies.

that have nothing to do with rapid access to regu-

amend existing legislation so as to eliminate

The approval of the new National Rare Disea-

Moreover, the proposal to accelerate thelarly registered therapies.

regional-based arrangements for accessing
orphan medicinal products and medicines

ses Plan and the provision of sufficient funding

with the characteristics of orphan medicinalthat the new National Plan will be approved by thein the foregoing Parliamentary Act no. 648/96.

availability of medicines for rare diseases
would guarantee the right to health

Therefore, it is essential that the proposed pro-

protection, as enshrined in Article 32

vision be completely reformulated to eliminate| 4 |need to redraft article 5, subsection 3, of thefor orphan medicinal products as well as care

Proposed actions

for rare diseases by eliminating all references
to law no. 648/96 and thus ensuring that all

medicinal products authorised by AIFA for
the treatment of rare diseases can be madeavailable by the regions regardless of whether
or not they are included in hospital formularies or similar lists.

National Rare Diseases Plan:
an integrated strategy for rare diseases

is another very important question. It is hoped
Health Ministry as soon as possible and drafted| 5 |after constructive dialogue with all the parties
concerned.

safeguards for persons affected by a raredisease into our health system that cover:The main objective of the plan should

The network’s nodes, instead, are constituted

Coordination Centres will be able to perform aby accredited centres - chosen by the regions

more rigorous monitoring action and whereon the basis of documented experience in thenecessary assist these centres and their allied

be to develop a medium-term, inte-assistance and referral;

treatment of one or more rare diseases - and they

local healthcare services pursuant to the guidelines

grated and wide-ranging strategy for

welfare and healthcare;must also comply with EU requirements if theylaid down by a joint committee instituted at therare diseases, centred on the needs of

selecting specific national and local diagnostic

are to fulfil their role as expert centres andsecretariat of the Conference State-Regions as

the person and his/her family and defi-

and monitoring capabilities in the health centres

participate in the European Reference Networks

well as by the permanent Expert Committee setof regional health networks.

(ERN).

up by the Health Committee of the Regions.

ned with the involvement of all stakeholders. The
plan should not only take account of the experience acquired but also be anchored within the

The National Rare Diseases Network (RNMR)

These centres are interconnected

A National Rare Diseases Register

framework of European recommendations.

- an integral part of the NHS - comprises all the(RNMR) was established at the

Proposed action

facilities and services of the regional healthsystems that, depending on their specific capacities

with hospitals and peripheral
healthcare services close to thehomes of rare-disease patients so(in execution of Article 3 of Ministerial

and functions, work together to implement preven-that they, as expert centres (operating

Decree no. 279/2001) and implemented

Heightening the Health Ministry's awareness oftion and monitoring, improve diagnosis and tre-

as functional units, and comprising one

following the State-Region Agreements

the need to approve the new Rare-Diseases

atment and promote information and training.

or more organizational/operational sections),of 2002 and 2007, with data culled from

National Plan, in concert with the ConferenceState-Region, by providing adequate funding
and initiating constructive dialogue with all
stakeholders.

The State-Region Agreement of 10

can ensure the correct referral and overall

the regional or interregional registers. However,May 2007 envisaged - regional

supervision of patients.

these registers differ one from another as

Superior Health Institute in 2001

regards the type and organizational form of theorganization permitting - theintroduction of Regional orInterregional Coordination
Centres operating as the

However, many differences still exist in the ope-

data collected and how individual regional admi-

rational relations between the centres and thenistrations make use of them. Some are mainly

peripheral/local healtcare services that, together

used for epidemiological and planning purposes,

network’s backbone. Over timewith other deficiencies in many parts of the natio-

while others are structured to perform support

ever-larger interregional areas were set up, cha-nal territory, prevent rare-disease patients fromand assistance to coordinate referrals of rare

Ministerial Decree of 18 May 2001, no. 279, set out

racterised and accompanied by a higher level ofenjoying equal access to the medicines available.

-disease patients.

the general framework of the national rare

standardisation of healthcare proposals.

It is hoped that the Regional and/or Interregional

The rare-diseases assistance network:in Italy and Europe

diseases assistance network and introduced

| 6 |

| 7 |

The RNMR, which is kept at the National Centre

European rare diseases Reference Network

2. Raising the awareness of the National Raremarketing authorisations or accept other appli-for Rare Diseases, was set up at the Superior

to guarantee the diagnosis and treatment of these

Diseases Centre on the importance of providing

cations for the extension of existing marketing

Health Institute in 2008 for the purpose of preven-pathologies. At present 24 European reference

training to ensure standardisation and comple-

authorisations for similar medicines with the

networks are operational, withwhich Italy participates in 23.

teness in data collection for the National Registersame therapeutic indications.

tion, treatment and surveillance. Instead,the National Rare Diseases Centre

and subsequent transmission to European bodies.

(CNMR) was given the mission of

In order to further promote the health protec-

research, consultancy and documentation on rare diseases and orphan
medicinal products and cooperates with national
and international institutions and patientassociations.

The EC considers it essential toshare various instruments, among

Measures promoting rare-disease
R&D: European legislation

tion of persons affected by a rare disease,subsection 3 of Article 8 envisages three exceptions to the foregoing rule: the first two referto circumstances attributable to the holder of thewhich registers and databases, guidelines, images

However, the National Rare Diseases Registerand select participatory facilities are outlined in

exhibits important shortcomings, especially in

two recommendations1, which were subsequently

The EU has also taken practical steps in recognizing the special nature of rare-disease
R&D with the issue of Regulation (EC no.
141/2000), whereby, under article 8, regulatory
benefits are granted to companies engaged interms of the completeness and updating of theincorporated into the European Commission’s De-

the research and development of orphan medici-of the medicine), while the third is premised ondata to be transmitted to it, the National Register,

cisions 2014/286/EC and 2014/287/EU of 10 Marchnes so that greater healthcare provision can be

the existence of medicinal product that appears

and the methodology used to process them.

2014 in the field of European reference networks.

offered to rare-disease patients. Such benefits

safer, more effective or otherwise clinically superior

include the introduction of a ten-year marketingwith respect to a similar but authorized product.

transmitted online and training activities.
The reference documents used to set up networks

In this field, data must be uniform and com-plete because they must be shared with Euro-

Proposed actions

orphan medicine authorization (whereby marketing authorisation is given to another similar
medicinal product, whenever the holder of the
exclusivity is unable to provide sufficient volumes

exclusivity after the issue of marketing
authorisation, which, however, may beThis is important measure operates separa-

1. Emphasizing the importance of adopting more

lowered to six years if at the end of thetely from patent coverage. It is part of aeffective monitoring by Regional and/or

fifth year, requirements for designating

framework of regulatory and procedural

Interregional Coordination Centres and,the medicine as an orphan medicinal

measures rather than that of intellectual

In view of the small number of patients and thewhere necessary, providing support to healthcare

product drug cease to apply.

property rights and has the indirect objective oflimited experience available, the European Com-

centres and territorial facilities.

Given this exclusivity clause, the European

protecting investments carried out in scientific research.

pean bodies. The CNMR would, therefore, beadvised to arrange training sessions at theregister’s offices.

mission deemed that it was essential to set up a

| 8 |Commission cannot therefore grant additional| 9 |LESSONS LEARNEDIN THE CURRENT PHASE
AND POST COVID-19
PROPOSALS

rare diseases.

This procedure should be subsequently imple-

Proposed actions

mented by the regions thereby allowing persons
At the same time, the Italian Medicines Agency

1. Reminding the Health Ministry of the needsuffering from rare diseases to benefit fromhas extended the validity of its therapeutic

to create and standardize therapeuticplans for medicinal products subject to monito-

diagnostic assistance procedures byfreely available healthcare and pharmacological services, which at this time of profoundring, where the clinical conditions of thelaying down appropriate general guidelines, toeconomic crisis is an even more critical benefit.

patient/pathology make this possible, in order tobe adapted and supplemented according to

reduce the risk of infection from Sars-CoV-2 inpathology, through the adoption of national

Wherever possible and applicable, pharmaceuticalelderly patients and/or with chronic diseases, andregulations.

companies have for years been implementing
patient support programmes and hometherapy, whose numerous advantages for rare

therefore also rare-disease patients, and in so

1. Access to care programmes

doing has reduced the number of visits to specialised surgeries.

disease patients and their families, include:
facilitating therapeutic compliance and access

The therapeutic plans

to medicines;

pharmacies);

and the Registers of the
Italian Medicines Agency
are instruments to monitor
and control the use oforphan medicinal products

simplifying caregivers’ day-to-day work byproviding practical support.

improving the clinical monitoring of the pathology;
minimizing possible risks for fragile patients

4. Making the Regions address the need toenhance the use of tools such as remotevisits and telemedicine, by putting standardised platforms in place (for hospitals, outpa-

2. Reminding the Italian Medicines Agency of thetient surgeries, etc.) at the regional level andtoextend the duration of therapeuticplans and monitoring registers
and simplify their management
procedures.
importanceofarrangements

recognising the validity of the use of remote
medical services on such platforms.
5. Cooperating with the Italian Medicines
Agency to encourage dialogue -3. Urging the Ministry of Health’s Committee

through ad hoc administrative measu-

responsible for updating basic healthcare

res – by using "smart" technology

reimbursed by the NHS.

standards (LEAs) to take steps to facilitate(such as video conferencing, teleconfe-

They ensure that such medicines are used

rencing, etc.), in order to accelerate the adoption

appropriately and administered only to patientsa procedure for including rare diseases
within these LEAs (for example, by laying

During the Covid-19 health emergency, pharma-

who may benefit from them, and at the same time

down immediate and certain deadlines forpossible.

ceutical companies have redoubled theirguarantee the garnering of field data on

including a rare disease in the LEA list), and toefforts in this field specifically in order to manage
the special fragility of persons suffering fromsafety and efficacy.

do so by amending national rules.

(for example, when visiting hospitals or hospital| 10 |of new orphan medicinal products as fast as| 11 |

2. Distributing medicinal products

structures left only to distribute those medicines

Tuscany which provided indications for the mana-

for which special conditions apply.

gement of rare disease patients during the Sars-

The measures implemented by some regions tofacilitate access to treatment with Hospital-Terri-

In this regard, the regions’ use of e-prescrip-

tory Formulary medicinal products during thetions should be increased in order to facilitate

Covid-19 emergency (such as those adopted forthe dispensation of medicinal products toexample in Tuscany or Campania) provide food forpatients.

reference centre has several benefits:

CoV-2 epidemic certain therapies can be

it ensures therapeutic compliance andidentified that could be transferred to the
PHT direct distribution formulary.

correct treatment;
it engenders psychological improvement inpatients which helps them cope with their

Proposed actiondisease better;it enables a therapy to be administered inthought.
The direct delivery of "special medicines"

Making the regions duly aware of the advantages

a family environment, guaranteeing theSome medicinal products could be easilyon the part of public structures should,of automatically inserting A-PHT medicinal

patient’s right to privacy in respect of his/her

removed from the PHT (Hospital-Territory)

however, be maintained should there

pathology;

formulary and assigned to the medicinesarise a need for periodic inspection

products for rare diseases in the list of medicines for pharmacy-facilitated distribution

ordinary distribution circuit used by theat the structure, or a therapeuticin order to redistribute healthcare assistanceit means not having to lose a day at work or inlarge-scale supply networks of local

criticality or a differential diagnostic

cross the territory and ensure the widespreadschool.

requirement, but without creating inconve-

distribution of these medicines in all regions.

pharmacies.

it allows patients to choose a day for treatment;

In recognition of the fact that at this time ofnience to patients as they must still attend such
In full Covid-19 emergency, moving A-PHT

structures for periodic monitoring.

3. Home therapy

health emergency the fragility of raredisease patients is a critical issue, themedicines from direct distribution to pharmacy-mediated distribution (DPC) was inten-

Similarly, it might also be feasible to transfer the

Effective home care has nume-

Italian Medicines Agency passed a

ded to reduce the risk of contagion for the mostadministration of certain medicinal products,

rous advantages for the patient as

resolution on 30 March 2020 embo-fragile patients, i.e. the elderly or debilitated, in

where possible and any in case under the strict

it combines clinical care with healthdying recommendations for the home

hospital structures. However, when the emer-

indications of a specialist, to local facilities
separate from hospitals, thereby ensuring therapeutic continuity and helping rare disease

and welfare services. This need isadministration of medicines for enzyme

acutely felt by rare disease patients.

replacement therapy, which represents apatients and their families.

Home therapy, which must always be evaluated and agreed upon by the physician of thegency is over this change in distribution could

become a permanent fixture throughout
the entire country in order to remodulate
healthcare assistance, especially as regards
widely used medicinal products, with publicwidening of access to home therapy.
This measure minimizes potential risks derivingfrom treatment discontinuities occasioned

On the basis of the experience of the Region of| 12 || 13 |

by the fear of contracting contagion in hospital

Based on the positive experience obtained during

environments.

the health emergency, it would be important to

The Covid-19 emergency has given training a

4. Training caregivers

further boost not only by expanding educational

return first to a document of 2012 addressing the

The caregiver plays a fundamental role asprogrammes but also by further developing theadministration of high-cost medicinal products toregards caring for rare-disease patient and theuse of remote communication technologies.

sting more widespread use of home therapy,

rare disease patients at home andfigure is of great social and economic value forbut its authorisation varies from one

approved by the Conference State-

the country. And although caregivers are often

It is, therefore, deemed essential to continue toregion to another.

Regions as it contains a series of

persons who are themselves elderly there is no

promote training, especially in cooperation

indications for carrying out homeshortage of suitable young people for this role.

with doctors and nurses, via online platforms

For years patient associations have been reque-

The European Parliament

therapy, and second to define

for some time, and different parliamentary

an organizational model
to ensure patient safety that would alsogroups have submitted various propo-

embrace regional health systems.

has been debating this issue

sals that go in the direction of providing assistance and care at home for rarethat are best suited for family assistance while
Given their key role, training
caregivers

isincreasingly

important to improve skills

ensuring flexibility in their implementationand guaranteeing possibility of access to theprogrammes available.

and knowledge with regard to

Proposed actiondisease patients. However, to date there has been

the pathology, patient rights

Proposed action

and the health and welfare

no meeting of minds and none of these proposals

Heightening the Health Ministry’s and Parliament’s

networks in whose framework they

Raising the awareness of the Ministries ofhave been accepted.

awareness of the importance of a clear

operate. Moreover, it is necessary that a

Health and Labour and Social Policy of the

training scheme should pursue the objective ofneed to earmark part of the resources of

The regions have adopted different approa-

regulatory framework to allow recourse tohome therapy throughout the entire national

developing a greater awareness of this figure’s

the fund set up under Parliamentary Act no.

ches: some allow rare disease patients to taketerritory, and a framework, moreover, that thesocial value in terms of benefits for the public

205/2017 to structured training programmes

advantage of home therapy. Others, despite being

regions would have to adopt so as to guarantee

and improving operational and relational skills.

for caregivers by issuing an executive decree

unable to assist patients with comprehensive

equality in the treatment of rare-diseasehome-care assistance (ADI), are still unwilling topatients while also offering the possibility ofPatient associations long active in this field haveagree to alternative forms of private home care,public-private partnerships.

been providing training programmes and practi-

although it could improve the patients’ quality of.

life and reduce NHS spending.

to reapportion these resources.

cal help on various issues through either face-toface or remote meetings.

| 14 || 15 |

In the field of neonatal screening Italy has emerged

panel whose efficacy is linked to prompt

cooperative arrangements among the subjects

as a European leader. The current system ofadministration and systems for specific,

involved:

NEONATAL SCREENING
AND EARLY DIAGNOSIS

extended neonatal screening comprises a panel

As we are dealing with complex and stronglyof over 40 rare, invalidating or lethal metabolic diseases, and is based upon a network ofdebilitating pathologies, early diagnosis isregional cooperation under the direction of theextremely important in helping to reduce theSuperior Health Institute.

symptoms and complications associated with thesensitive and sustainable tests.
1. the numbers of people affected by each rare

Proposed action

pathology are small and distributed over theentire country. In addition, the epidemiological

Making the Health Ministrydata available are limited and the current

aware of the importance of fully

use and dissemination of existing registers ofnatural progression of the disease and/or

Furthermore, as a result of the many pilot

implementing law no. 167/2006, by convening,

patients’ death.

projects carried out in different regions, Italy has

The diagnosis of many rare diseases often

decided to further enhance early diagnosis, by

requires an extended period of time, someti-

giving the Ministry of Health powers to update,at the earliest possible date, a working
table tasked to review the panel of pathologies
subject to neonatal screening (genetic

mes extending over several years.

by 30 June 2020, the panel of pathologies

neuromuscular diseases, severe congenitalsubject to neonatal screening, in order to take

immunodeficiencies and lysosomal storage

Many of these diseases are genetic in origin andaccount of the evolution over time of scientificdiseases) and put arrangements in place for

their diagnosis can often only be confirmed byevidence in the diagnostic-therapeutic field,
commencing from genetically originated neuromuscular diseases, severe congenital
immunodeficiencies and lysosomal storage
diseases. Moreover, provision has been made foran accumulative financial allocation to enable

the panel’s annual update.

specific DNA examinations.
Neonatal screening is therefore fundamental
for the timely treatment ofpatients suffering from diseases for which research has
found therapies that are effec-

2. not all rare diseases are included in a thoroughmanner and diagnosis is not always early

and accurate;
3. there are too few specialised centres andclinical experts. This can entail logisticaldifficulties for participants and an insufficientawareness of rare disease outside of such
centres. Furthermore, in the long term, major
problems may arise in terms of the generational

CLINICAL STUDIES

turnover among clinicians;

the regions to deliver these services.

tive in preventing degeneration andResearch on rare diseases is a specialised

4. on account of the distinctive features of thesepathologies it is necessary to (a) apply researchavailable therapies, to fully implement regula-research area within the pharmaceuticalindustry, and one characterized by the following

methodologies that increase the efficiency

tions on the updating of the neonatal screening

aspects, each of which requiring the attention andof study designs and the analysis of the data,

it should, as such, be considered

It would, therefore, be desirable, in the light ofan indispensable investment for

promoting public health.

pathology is suboptimal;| 16 || 17 |

(b) reach a consensus on clinically significant

the medical class as a whole to upgrade training

can be shared, and to which must be delegatedcompanies, pharmaceutical researchers andendpoints, (c) mitigate recruitment difficulties

initiatives in this field. Instead, as regards clinicalthe task of obtaining international validationcompanies - are fundamental if the main chal-and minimise patient drop-out rates during

research, the creation of networks of experi-(EMA) on the reliability of data obtained throughstudies determined by logistical factors.

mental centres could be simplified, in orderprocedures and arrangements hitherto

lenges posed by rare diseases in the managementof clinical studies are to be successfully tackled,

to facilitate the identification of potential partici-

considered.

These peculiarities entail recruitment difficulties

pants, on the basis of a hub & spoke 2 or decen-in studies and therefore longer times in producing

tralized study model.

results to help identify useful therapeutic alternatives. In order to facilitate the identificationof potential participants it would

notand not just during the Covid-19 emergency, andif more innovative approa-

The following are examples of a few suggestions
on measures that could be taken:

Furthermore, in order to take action on the fourthches that could redesign
future clinical research are
to be identified.

point, a dialogue with regulatory authorities,

allowing participants in studies to make use

scientific societies and companies could help
identify clinically significant endpoints, in theof home therapy;

to publicize the fact that clinicalstudies in a given pathology arehope that Patient Reported Outcomes could also

and IT in the form of telemedicine, digital

Publicising the fact that the pharmaceuticalbe validated as endpoints astechnology, wearable devices, and ePRO

taking place through a proactive

well as an ever-greater

apps;

cooperation with patient associations;to facilitate or draw attention to the compilationof national registers;
to promote neonatal screening, wheneverinvolvement of expert
patients in the design oftrials and the preparation

permitting recourse to specialized services

for participants so as to reduce the travelling,
and board and lodging costs for transfers

companies are willing to continue their fullcollaboration with the regulatory authorities
and institutions, patient associations,scientific companies and researchers inof study documents.

to specialised centres but which families withclinical trials for rare diseases in the best way

rare disease patients, especially young patients

possible and introduce more innovative

useful;At a more functional level, some of the measures

or with a caregiver in attendance, may not beapproaches.

to facilitate the performance of epidemiological

implemented during the Covid-19 pandemic

able to afford.

or natural history studies.

emergency could be confirmed, albeit with

be desirable:

whatever adaptations deemed necessary, in orderAs regards the third point we could promote new

to maintain a continuous and constant rela-and additional awareness campaigns aimed attionship with the Italian Medicines Agency,with which the information on corporate pipelines| 18 |

Proposed action

making more widespread use of innovation

Dialogue and open cooperation between thevarious subjects involved in the macro-processof clinical research - regulatory authorities andthe institutions, patient associations, scientific| 19 |

order to address the main challenges posed by

FARMINDUSTRIA
Largo del Nazareno 3/8 - 00187 Roma
T: 06 675801
Avenue de la Joyeuse Entrée 1 - B1040 Bruxelles
T: +32 2 2861255

farmindustria@farmindustria.it
www.farmindustria.it

Note
1 Recommendations on Quality Criteria for Centres of Expertise for Rare Diseases in Member States of 24 October
2011; Recommendations on Rare Diseases European Reference Networks (RD ERN) of 31 January 2013.

2 This is an organizational model that starts from the assumption that certain conditions and complex diseases require
specialized skills that cannot be comprehensively guaranteed or widespread throughout the territory. It is characterizedby concentrating the more complex cases in a limited number of centres of excellence (hubs) and peripheral centres(spokes), to which persons whose condition exceeds a certain threshold of complexity are sent.
| 20 |