All  are rare. Globally, the incidence is fifteen cases per 100.000, about 1.600 cases per year in Italy. The pediatric tumors represent from 0.5% to 2% of all neoplasms with incidences ranging from 1-2 cases per million for cancers really rare as hepatoblastoma up to 35 per million for the acute lymphocytic leukemia (ALL).

Pediatric

The European project RARECARE called “rare” any disease whose incidence does not exceed 6 cases per 100.000 person-years. In children, however, the pediatric oncologists call “rare” a neoplasm characterized by an annual rate of less than 2 cases per million.

The Italian project TREP (Rare Cancer in Pediatric Age) of the Italian Pediatric Hematology Oncology Association (AIEOP) tried in the last decade to study these diseases, considered “orphan”. The purpose of TREP is to improve the clinical management and basic research on these tumors. It is clear that these are tumors are causing problems to pediatric oncologists and surgeons, who have to provide adequate care. If some of these tumors are typical of childhood age, other tumors known as rare pediatric tumors are frequent in adults, such as melanoma, gastrointestinal tumors, nasopharyngeal cancer and thyroid cancer. However, in recent years, these rare diseases attracted more attention and several cooperative groups arose on rare tumors as part of the international associations of pediatric oncology. The TREP project has been a model for dedicated network to the children and adolescents management with cancer and rare diseases and led to the creation of the European Project EXPeRT (European Cooperative Study Group for Pediatric Rare Tumors). With the TREP project, it has been established a register of diagnosed cases, but over time they developed guidelines for the diagnosis and treatment of each type of tumor creating a network of experts to help oncologists to manage the patients.

Andrea Ferrrari
Andrea Ferrrari

To date about 70% of cancer patients in the pediatric age heals. «This figure – explains Andrea Ferrari, pediatric oncologist of National Cancer Institute and coordinator of the Committee on adolescents AIEOP – is obviously the result of an average between diseases that have a cure rate of 90% and cancer with a prognosis still totally unsatisfactory, such as neuroblastoma or metastatic rhabdomyosarcoma. In this sense the need to develop new and effective therapies is fundamental».

If the overall survival rate is good, the downside records that about 30% of children and adolescents with cancer still die, 60-70% of the survivors will have at least one side effect and 30% of these will develop heart diseases, fertility problems or another tumor.

Drugs and therapies

Angelo Ricci
Angelo Ricci

«If we consider the extraordinary successes achieved in terms of cure rates over the years and we compare them to the number of new drugs introduced for the treatment of hemato-oncology diseases we would be surprised to see that there is no connection between these two aspects» – says Angelo Ricci, President of the Italian Federation of Parents Pediatric Hemato-Oncology non-profit organization (FIAGOP) introducing us into the difficult world of pediatrics clinical research.

«All the results so far acquired – continues Ricci – are due to a constant improvement of treatment protocols, namely the comparison of different therapeutic strategies to determine the most effective dose or the most tolerated, with the study of biological and genetic materials. In short, a clarification of the doses – drugs and radiotherapy – aimed to achieve the best therapeutic results with fewer consequences related to the drugs toxicity that interact heavily with healthy cells as well as diseased cells. Patiently everything is monitored in projects, also at European level, taking into account the low incidence of cases».

«In general we make use of adult drugs that are used off-label, not pediatric medicines specifically designed for that category of patients. These drugs are already registered, but used in a different manner than the one authorized and provided in the pharmaceutical product data sheet». During the conference “Perspectives of care and research for rare cancers” that was held in Palazzo Montecitorio (Rome) in October Maria Teresa Fasanelli, President of Peterpan Onlus, a non-profit organization that deals with ill children, intervened pointing out that «over 50% of drugs given to pediatric patients with cancer has not been authorized for children».

«However, this method worthy and well tested – adds Ricci – probably reached its limit – or rather, the drugs used reached this limit». For some forms of cancer affecting mainly children and adolescents, treatment and prognosis are not changed over the last 20-30 years. «The scientific community, and parents with them, knows that it is necessary to rely on new drugs».

The pediatric tumors in fact are not those of adults and children are not adults in miniature. It is important to validate drugs intended for adults also in the pediatric fields but above all to develop specific treatments for children. Currently only 3 out 180 cancer drugs have been tested on children. This is no longer acceptable with the advent of personalized medicine in the era of innovative medicine, «it is essential to move from the logic of the maximum tolerated dose – emphasizes Fasanelli – to that of the minimum adequate dose».

Obstacles in pediatrics clinical research

«Only 2% of resources allocated for research – explains Ricci – regards children».

The pediatric oncology has never been a field of particular interest both for research and clinical trial. The availability of drugs in this area has always been linked to three main factors: the rarity of cases has been an obstacle to the development of clinical trials and protocols specific for children and adolescents; the scarcity of numbers does not push drug companies to invest in this field, especially if not encouraged by appropriate laws and incentives. Also there are ethical and legal complications (i.e. the requirement to activate specific insurance coverage, with the associated costs). In addition to that, there is a problem in all the trials that is linked to the basic research.

«Even on basic research – explains Ferrari – it remains the problem of numbers: the scarcity of biological samples destined to the laboratories does not help the identification of molecular targets on which it is possible to formulate and then test new drugs».

According to Fasanelli, besides that, there is also a second problem related to the privacy. Currently in Italy about 7/8 studies are standing in the field of solid and liquid tumors. «Very few – says Ferrari – reflecting the difficulties of developing clinical trials on children certainly due in large part to the small number of eligible patients».

Wind of change

For several years things are changed for pediatric doctors and with the beginning of precision medicine. In the field of childhood cancer, the European consortium for the development of new drugs, the ITCC (Innovative Therapies for Children with Cancer) allows to concentrate the efforts of all the European countries involved in the treatment of childhood cancer and to reduce and modify all the bureaucratic rules.

In 2007 ITCC introduced the PMR (Paediatric Medicines Regulation), European laws that promote the research in all pediatric diseases. According to the European associations of parents and non-profit foundation called Unite2Cure, however, the PMR have not kept their promise to provide safer and more effective drugs. For this, in September 2015, Unite2Cure produced a number of concrete proposals for specific changes in the European legislation gathered in the official document entitled “Making the European Paediatric Medicines Regulation work for children and teenagers with cancer.”

The main focus of the document is the principle that every time a pharmaceutical company develops a drug for an adult disease should also investigate the potential of the new drug in fighting the same disease in children and adolescents. The Pediatric Investigation Plan (PIP), precisely, was introduced with the 2007 PMR and provides that during the early stages of clinical trials in adults, the pharmaceutical company must arrange also the research and the development of the drugs in pediatrics at EMA. Nevertheless, the problem is facing the exceptions: if the treatment under study represents a disease that occurs only in adults, such as ovarian cancer, the company may require to put aside the pediatric studies and to obtain an exception to the rule.

In the first five years of implementation of the European legislation, 26 new drugs for adults with possible results also in children have been developed but more than half were abandoned (ITCC, 2012). In response, the British Institute of Cancer Research said: “We strongly support the replacement of the current system of exemption based on the type of disease (adult/pediatric) with another that looks in the specific mechanism of the drug. We believe that this would result in a considerable increase in the number of pediatric studies for drugs potentially important for childhood cancers”. Even the protocols should be revised. A group of European stakeholders gathered in a platform (CDDF ITCC ENCCA-SIOPE the European Society for Paediatric Oncology Platform) presented a series of proposals. With the arrival of the European centralized database of molecular targets in children, it is possible to define a strategy to assign a priority to drugs that would involve all the people interested, with the help of EMA.

In order to involve the pharmaceutical industry there must be strong incentives for these pediatric studies. Currently the incentives offered to those who complete a PIP for a six-month extension is the exclusive access to the market of the drug, without generating a true commercial interest.

As written in the proposals of Unite2Cure, the biotech industry need long term financial incentives in order to commit to the research for children. In November, the European Commission declares that it does not want to accelerate the revision on the Regulation on childhood cancer (as required by the document Unite2Cure) planned for 2017.

In the European Parliament, on the subject of childhood cancer not much has happened. In 2014 several members have signed a manifesto to support pediatric oncology. «The world of pediatric oncology is still marginal – says Ricci – however there is some interest and there is a group in the European Parliament: Members of the European Parliament against Cancer (MAC), devoted to those issues».

On November 18, in Brussels the scientific world, parents and MAC presented the Cancer Plan for European children and teenagers. This plan is the roadmap of the outcome of the work of the European pediatric oncologists drafted to establish the seven objectives to be achieved by 2020 in the field of pediatric oncology.