Transplants: Even Patients With Rare Diseases Can Donate Organs

An Italian study analyzes for the first time the suitability for organ donation for 500 rare neurological diseases at risk of death. In 85% of cases it is possible to proceed with the transplant.

Having a rare disease is not in itself a contraindication to organ donation. This is clarified by an Italian study, published in the journal Clinical Transplantation, which analyzed about 500 rare neurological pathologies at risk of death, verifying for each one the suitability of the individual organs for transplant: kidney, liver, heart, lung and pancreas. The judgement was fully positive (standard risk) in 85% of cases and partially positive (non-standard risk) in another 5% of cases. The study, aimed at offering clinicians guidelines on how to proceed in the case of donor subjects suffering from rare diseases, involved the National Transplant Center, the Superior Health Council and numerous transplant centres, including the Bambino Gesù Pediatric Hospital. First signed by Prof. Bruno Dallapiccola, scientific director of the Holy See Hospital.


According to the European definition, a disease is rare when it has a prevalence of less than 5 cases per 10.000 people. The overall prevalence of rare diseases with neurological involvement in the population is greater than 1%, a frequency similar to that observed among potential organ donors, according to the experience of the National Transplant Center. To date, however, there are no guidelines suggesting to clinicians how to proceed: operational decisions are made empirically, case by case, on the basis of the experience and expertise of the doctors. For this reason, the Superior Health Council set up a working group in 2019 to evaluate “patients with rare diseases as potential organ donors”, with the aim of developing recommendations for the management of transplant cases in which donors are suffering from one of these diseases.

Every organ available is in fact precious for those waiting for a transplant, but the evaluation of the single organ must guarantee the receiver a real benefit. Although in fact there are no “zero risk” organ transplants, because the path of research and identification of the potential donor always takes place in emergency conditions, the organ evaluation process is aimed at minimizing the risk of transmitting a disease to the receiver of the transplant.

Whether the risk of remaining on the waiting list indefinitely or of receiving an organ potentially capable of transmitting a particular disease or in any case considered suboptimal is a final evaluation that is never simple. The study in question, and the relative technical annex, represent an operational tool available to clinicians, and offer for the first time, for each rare disease considered, an indication of the suitability for donation and details on the transplantable organ, with the relative level of risk.


The study published in the Clinical Transplantation journal involved a working group composed of experts in medical genetics, internal medicine, metabolic diseases, pathophysiology, endocrinology, neurophysiopathology and other clinical fields. The National Transplant Center, the Superior Health Council and numerous transplantation centres have collaborated: the Giustinianeo Hospital and the University of Padua, the R. Binaghi Hospital and the University of Cagliari, the Bergamo Hospital – Pope John XXIII, the Ismett of Palermo and the Foundation, the City of Health and Science of Turin. Coordinator of the working group Prof. Bruno Dallapiccola, scientific director of the Holy See Hospital.

Experts analyzed the most frequent rare neurological diseases, proceeding with a review of the available literature, case reports, specific personal and professional experience during various virtual and face-to-face meetings. From the Orphanet database, the international reference network for rare diseases, 493 pathologies were selected. This is a number equal to about 10% of all rare diseases (over 700), which however includes over 95% of patients with rare neurological diseases at risk of death. For each condition, the working group defined the eligibility or ineligibility for donation and, in case of eligibility, the potentially transplantable organs. A first group of about 150 pathologies had already been previously evaluated in second opinion by a group of experts on behalf of the National Transplant Center and the opinion was integrated into the final document. The remaining 342 rare diseases were examined for suitability for organ donation, with a fully positive (standard) judgement in 85% of cases and a partially positive (non-standard) judgement in another 5% of cases. For each disease for which the suitability for donation was recognized (standard or non-standard), the suitability for transplant of the single organ was also assessed.

In conclusion, in donors suffering from a rare neurological disease at risk of death, almost 80% of the organs were suitable for transplant, about 7% were not suitable and about 14% were suitable as non-standard with an acceptable risk. For the latter organ category, a specific follow-up is highly recommended.


Bruno Dallapiccola, scientific director of Bambino Gesù and coordinator of the working group, explains: “For patients waiting for a transplant, every organ is precious, just as the generosity of donors is precious, who can sometimes be affected by a rare disease, often synonymous with lack of knowledge or scarce knowledge. Hence this study wanted to offer clinicians, nationally and internationally, a useful guide to orient their choices, avoiding losing a quantity of potentially usable organs. In fact, 85% of the rare diseases analyzed were absolutely eligible for donation”.

Massimo Cardillo, director of the National Transplant Center, adds: “The work carried out within the Superior Health Council is particularly important, because it has allowed us to integrate our operational protocols currently used in the case of organ donation. Expanding the number of usable donors is essential to respond to the needs of the approximately 8.000 patients on the waiting list for a transplant: this study allows us to reiterate that every donation is precious and that the Italian transplant network puts in place every useful tool to operate the greatest possible number of withdrawals while guaranteeing the highest standards of efficiency and safety of the transplants, to protect the receivers”.

“The dream of Bambino Gesù Hospital,
the dream of the Pope, is to help bring
science and humanity to all children with
very severe diseases who need to be treated”
Pope Francis