EXECUTIVE SUMMARY

Access to therapy: a right not fully
exercisable in many parts of the country

EXECUTIVE SUMMARY
Rare Diseases:
a socially important rarity
A rare disease is a disease with an incidence offewer than 5 cases per 10,000 persons.
Rare diseases number between 5,000 and 8,000
worldwide and mainly affect children who accountfor between 50% and 75% of all patients. The
rarity of such diseases is often a complicating factor
in the research for pharmaceutical treatments.
Therefore, news of a medicine that canwith which Italy participates in 23.

and set up to implement prevention and surveillance actions, improve diagnosis and treatment

Regulation (EC no. 141/2000) by recognizing theAs rare-disease patients must have immediate

and promote information and training; in otherspecial nature of rare-diseases R&D offers

access to rare-disease therapies

words, a network for the protection of rare

regulatory benefits to companies engaged in thethat often constitute the only

disease patients.

research and development of orphan medicines

available treatment, suchaccess represents a non-deferable
right.

In many parts of the country far too many differen-for the precise purpose of improving rare-diseaseces exist in the relations between healthcare centres

healthcare.

and territorial assistance facilities that, together withother deficiencies, prevent rare-disease patients from

Therefore, whatever hinders theenjoying equal access to the medicines available.

exercise of this right adversely affects

The commitment of Aifa, the Italianregions and pharmaceuticalcompanies during the pandemic

both patients and their families.

Similarly, a National Rare Diseases Register

But why are pharmacological therapies

has been set up to collate data from the regionalSince the onset of the pandemic, Aifa, theauthorised nationally by the Italian Medicines

or interregional registers, but it is still beset by

Agency not equally and/or promptly acces-

serious drawbacks, especially completenessregions and pharmaceutical companies havedone their utmost to accommodate the fragility

and updating.

of rare-disease patients, and in this context several

finally treat a rare disease is always
greeted with unforgettable emotion

sible throughout the entire country?

among rare-disease patients who

specific measures have been introduced.

Generally, the reason is to be found inhave had, often since birth, to coe-the purely economistic calculations

xist with the pathology. Such treat-applied by regional, provincial and hospi-ment, by removing the suffering andEuropean regulations to safeguard
research and rare-disease patients

1. Pharmaceutical companies have enhanced

In view of the small number of patients and limited

patient support programmes and hometherapy, whose numerous advantages include

experience available, the EU deemed that it wasfacilitating therapeutic compliance and accessessential to set up a European Rare Diseases

to medicines, improving the clinical

Reference Network to guarantee the diagnosis
and treatment of these pathologies. At present 24
European reference networks are operational,monitoring of the pathology andtal-trust authorities that limit or delay thelimits frequently determined by rare diseases, is a first step toward a better quality of life.
And sometimes "this" new treatment can offer arealistic hope of recovery.

and services of the regional health systems

use of these medicines, especially as regards
adults afflicted by rare diseases.
And this attitude persists despite the fact that aNational Rare Diseases Network has been inplace since 2001, comprising all the facilities

| 2 |

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simplifying caregivers’everyday
activities.

2. The Italian Medicines Agency has extended

Early diagnosis: a fundamental toolraises specific problems deriving from the limited
numbers of people affected by each rare pathology,

the validity of its therapeutic plans for me-

Urgent actions to be taken in the interest of patientsdicinal products subject to monitoring

As we are dealing with complex and strongly debili-

the paucity of specialised centres, the limited natureand has widened access to hometating pathologies, early diagnosis is extremelyof the epidemiological data available and, notThe health emergency facing our country calls fortherapy, thus minimizing theimportant in helping to reduce the symptoms

least, the difficulties in understanding the diseases

a rapid overhaul of the all system if we are topotential risks deriving fromand complications associated with the natural

themselves.

improve the access to and availability of therapies

discontinuities in treatment

progression of the disease and/or patients’ death.

Precisely for this reason it is necessary to apply

and healthcare services for patients, and which

research methodologies that can enhance theefficiency of design studies and data analysis,
mitigate recruitment difficulties and minimize the rates of logistically-related patient
dropouts during the study.

would, of course, also entail extremely important

attributable to the fear ofcontracting contagion in a
hospital environment.

Neonatal screening is therefore of fundamental
importance for the timely treatment of patients
suffering from diseases for which

3. Some regions have implemented measuresresearch has found effective

to expedite access to therapy by shifting thetherapies that can prevent

distribution of A-PHT medicines fromdirect distribution to pharmacy-facilitateddistribution.

degeneration.

innovations in the treatment of rare-disease
patients.

Pharmaceutical companies wish to work sideby-side with patients and the institutions sothat they may make their own contribution towards

Dialogue and open cooperation between thevarious parties involved in the macro-process

the definition of a forward-looking and integrated
strategy for the complex world of rare diseases.

Neonatal screening is the-of clinical research -refore of fundamental impor-regulatory authorities

It is an encouraging signal that

The provision of care to rare-disease patientstance for the timely treatment

and the institutions,Parliament is now debating

also entails the provision of a caregiver, a figureof patients suffering from diseases for which

patient associations,a bill designed to sustain

whose services are of great social and economic

research has found effective therapies that canscientific companies, re-research and production

value for the country.

prevent degeneration.

searchers and pharmaceuticalfor orphan medicinalcompanies - are fundamental factors in tackling

products as well as

the main challenges posed by rare diseases interms of managing clinical studies and identifying
more innovative approaches for redesigningcare for rare diseases

future clinical research.

while also creating an opportunity for all sector

Given their key role, training caregivers is increasingly important to improve their skills andknowledge in respect of the pathology, patient

Research: patient scarcity anddifficulties to be overcome jointly

rights and the socio-health and welfare networks
in whose framework they operate.

Rare diseases are a specialised research areafor pharmaceutical companies, and one that| 4 |(TU C. 164 and abb.) as it means that the institutions are now paying attention to the problem
participants.

| 5 |storage diseases) and put arrangements in place

Measures that can help to improve
the lives of many rare-disease patientsavailable by the regions regardless ofwhether or not they are included in
hospital formularies or similar lists;

In the light of the experience gained during thisb. the Italian Medicines Agency on the importanceperiod, it would be highly desirable to quickly im-of complying with the 100-day deadline

plement the following priority measures infor concluding reimbursability and pricing

Heightening the Health Ministry's awarenessorder to provide stable access to available

procedure as laid down for orphan medicinalof the need to approve the new Rare-Diseases

therapy and care services for rare-diseaseproducts and medical products of exceptional

National Plan, in concert with the State-Region

patients.

therapeutic importance.

Conference, by providing adequate funding

for the panel’s annual update.

LONG-TERM MEASURES
Emphasizing the importance of adopting more

MEDIUM-TERM MEASURES

effective monitoring by Regional and/orand initiating constructive dialogue with all

SHORT-TERM MEASURESHeightening the Health Ministry’s andstakeholders.

Parliament’s awareness of the importance of a
Informing the Health Ministry committee

therapies for rare-disease patients by heightening

clear regulatory framework to allow
recourse to home therapy throughout the entire

tasked to update the L.E.As (basic healthcare

the awareness of:national territory, and a framework, moreover,levels) about the importance of a procedurethat the regions would have to adopt so as toto facilitate the inclusion of rare diseases
among such basic healthcare
levels.

Facilitating immediate access to available

a. the Social Affairs Committee of the Chamber

guarantee equality in the treatment of rare-diseaseof Deputies on the need to redraft

patients while also offering the possibility ofarticle 5, subsection 3, of thepublic-private partnerships.

and production for orphan me-

Making the Health Ministry aware of the impor-of the need to create anddicinal products as well astance of fully implementing law no. 167/2006,

care for rare diseases byby convening, at the earliest possible date,standardize therapeutic diagnostic assistance procedures by laying

eliminating all references to law no. 648/96

a working table tasked to review the panel ofdown appropriate general guidelines, to be

and thus ensuring that all medicinal

pathologies subject to neonatal screening

adapted and supplemented according to pathology,

products authorised by AIFA for thetreatment of rare diseases can be made(genetic neuromuscular diseases, severe

through the adoption of national regulations.

| 6 |where necessary, providing support to healthcarecentres and territorial facilities.
Making the regions duly aware of theautomaticallyinserting A-PHT medicinal products for rare diseases in the list ofmedicines for pharmacy-facilitated distribution in order to redistribute healthcare
advantages

ofassistance across the territory and ensure thewidespread distribution of these medicines inall regions.
Publicising the fact that the pharma-Reminding the Health Ministrybill designed to sustain researchInterregional Coordination Centres and,ceutical companies are willing tocontinue their full collaboration with theregulatory authorities and institutions,patient associations, scientific companies
and researchers in order to address the main
challenges posed by clinical trials for rarediseases in the best way possible and introduce

congenital immunodeficiencies and lysosomal

more innovative approaches.
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