For many rare disease (RD) patients, allogenic transplantation represents an effective therapy, improving overall survival rates and quality of life (QoL). Globally, - 1% of liver transplants are performed for RDs and rare indications. However, patients and carers report unmet needs on their pathway toward treatment - in education and therapeutic measures, oftentimes shouldering expertise -building responsibility themselves. These issues are exacerbated in child patients. Estimates indicate that 6% to 8% of Poland ' s population (2.3-3 million persons) are burdened by RDs and potentially face such issues. This work aims to identify shortcomings of Polish policy in the fi eld of educational and therapeutic measures for RD transplant candidates and recipients. Based on solutions introduced by pioneers, recommendations are formulated regarding priority actions. An analysis of national, transnational, and individual -center programs, directed at patients during their path from diagnosis to life post -transplant, was conducted. The investigation uncovered measure gaps not addressed by the National Plan for Rare Diseases - in fi elds of patient and stakeholder education (pre- and post -transplant), psychological care provision, specialized center creation, integration of data scattered among registries with the national insurer ' s database, and arti fi cial intelligence (AI) tool implementation to support both early diagnostic efforts and tailoring of patient treatment. Programs directed at RD transplant candidates and recipients must aim to ensure that a satisfactory psychosomatic condition of the patient is maintained before and following the procedure, therefore lending credence to success. This necessitates early diagnosis schemes, and personalized medicine, multidisciplinary approaches to the individual, achievable only through big data system creation and AI introduction.

Background/Objectives: Patients suffering from rare diseases are particularly vulnerable to vitamin D deficiency. The role of vitamin D status in rare disease management remains insufficiently investigated and employed in routine clinical practice. Methods: This review analyses current data on vitamin D status in selected rare diseases of organs involved in vitamin D metabolism: skin (epidermolysis bullosa, morphea), liver (autoimmune hepatitis, primary biliary cholangitis, primary sclerosing cholangitis), kidney (Alport syndrome, Fabry disease), and cystic fibrosis as a model of a systemic rare disease. Additionally, this review critically examines potential drug–vitamin D interactions in the context of rare disease patient polypharmacy. Results: Evidence suggests that vitamin D deficiency is prevalent in rare disease patient populations, often at once exacerbating and being simultaneously exacerbated by the underlying condition. Vitamin D deficiency correlates with worse clinical outcomes and lower quality of life across the examined diseases. Immunoregulatory properties of vitamin D appear relevant for rare diseases with autoimmune components. Conclusions: An urgent need for developing disease-specific clinical practice guidelines, implementing routine vitamin D monitoring in rare disease patient care, and introducing tailored supplementation under the principles of precision medicine is emphasized.

Background/Objectives: Persistent infection with high-risk HPV genotypes accounts for the development of a substantial portion of anogenital and oropharyngeal malignancies. Patients with primary and secondary immunodeficiency or those receiving immunosuppressive therapy, including transplant recipients and patients affected by rare diseases, are vulnerable to particularly severe clinical manifestations of infection. While HPV vaccination constitutes primary prevention, patients with HPV-associated disease remain at risk of reinfection or subsequent infection with alternative genotypes following surgical treatment and may benefit from peri-operative vaccination regimens. This study aimed to evaluate long-term outcomes of HPV vaccination following surgical management of condyloma acuminata in patients with concurrent high-risk genotype infection. Methods: 350 patients with condyloma acuminata and HPV-16 or -18 co-infection confirmed by histopathological examination and PCR genotyping (oral cavity, vulva, vagina, penis, anoderma), including a subgroup with primary or acquired immunodeficiency or chronic immunosuppressive regimens, underwent surgical treatment, receiving simultaneous immunization with the first dose (subsequent completion of full regimen over 12 months) of the bivalent Cervarix vaccine (170 patients) or the quadrivalent Gardasil vaccine (180 patients). A follow-up examination, including HPV genotyping (16/18/31/35), was performed after 6 and 12 months following regimen completion. After 36 months, a standard clinical examination was performed, and in doubtful cases, supplemented with genotyping and biopsy/cytology. Observation was continued in subsequent years (5, 10, and >15 years). Results: Condyloma acuminata requiring removal were observed in 5% of the patients in follow-up at 36 months, with no significant statistical difference between vaccine groups. No cellular atypia or malignant transformation in the form of squamous cell carcinoma was observed. Genotyping did not detect HPV-16/18/31/35 infection in the follow-up examinations. Conclusions: In this uncontrolled, single-arm cohort, peri-operative initiation of either the bivalent or quadrivalent HPV vaccine was associated with a low rate of clinically apparent condyloma acuminata recurrence and no detectable HPV-16/18/31/35 infection during follow-up.

Background/Objectives: Persistent infection with high-risk HPV genotypes accounts for the development of a substantial portion of anogenital and oropharyngeal malignancies. Patients with primary and secondary immunodeficiency or those receiving immunosuppressive therapy, including transplant recipients and patients affected by rare diseases, are vulnerable to particularly severe clinical manifestations of infection. While HPV vaccination constitutes primary prevention, patients with HPV-associated disease remain at risk of reinfection or subsequent infection with alternative genotypes following surgical treatment and may benefit from peri-operative vaccination regimens. This study aimed to evaluate long-term outcomes of HPV vaccination following surgical management of condyloma acuminata in patients with concurrent high-risk genotype infection. Methods: 350 patients with condyloma acuminata and HPV-16 or -18 co-infection confirmed by histopathological examination and PCR genotyping (oral cavity, vulva, vagina, penis, anoderma), including a subgroup with primary or acquired immunodeficiency or chronic immunosuppressive regimens, underwent surgical treatment, receiving simultaneous immunization with the first dose (subsequent completion of full regimen over 12 months) of the bivalent Cervarix vaccine (170 patients) or the quadrivalent Gardasil vaccine (180 patients). A follow-up examination including HPV genotyping (16/18/31/35) was performed after 6 and 12 months following regimen completion. After 36 months a standard clinical examination was performed, and in doubtful cases, supplemented with genotyping with biopsy/cytology. Observation was continued in subsequent years (5, 10, and >15 years). Results: Condyloma acuminata requiring removal were observed in 5% of the patients in follow-up at 36 months, with no significant statistical difference between vaccine groups. No cellular atypia or malignant transformation in the form of squamous cell carcinoma was observed. Genotyping did not detect HPV-16/18/31/35 infection in the follow-up examinations. Conclusions: In this uncontrolled, single-arm cohort, peri-operative initiation of either the bivalent or quadrivalent HPV vaccine was associated with a low rate of clinically apparent condyloma acuminata recurrence and no detectable HPV-16/18/31/35 infection during follow-up.