[Translated article] Good humanisation practices in the healthcare of patients with rare diseases in Pharmacy Services.

Objective: To analyse the presence of Good Humanisation Practices in the care of patients with rare diseases in Hospital Pharmacy Services and to identify the strengths and prevalent areas for improvement in the humanisation of healthcare.

Methods: An online questionnaire structured in 2 parts was developed using Google Form®. The first one was designed to collect identifying data and the second one included questions related to compliance with the 61 standards of the Manual of Good Humanisation Practices in the healthcare of patients with rare diseases in Hospital Pharmacy Services.

Presence of good humanization practices in the healthcare of patients with rare diseases in Pharmacy Services.

Objective: To analyze the presence of Good Humanization Practices in the care of patients with rare diseases in Hospital Pharmacy Services and to identify the strengths and prevalent areas for improvement in the humanization of healthcare.

Methods: Online questionnaire structured in two parts was developed using Google Form®. The first one was designed to collect identifying data and the second one included questions related to compliance with the 61 standards of the Manual of Good Humanization Practices in the healthcare of patients with rare diseases in Hospital Pharmacy Services.

Implementation and results of a risk-sharing scheme for enzyme replacement therapy in lysosomal storage diseases.

Objective: To describe a risk-sharing program's implementation and  results on enzyme replacement therapy for lysosomal diseases.

Method: The program was designed and implemented in a referral hospital for congenital metabolic diseases. The conclusion of  agreements required the following phases: 1) To define and agree on  response variables and criteria to treatment; 2) to assign discount  percentage to each stage of effectiveness; 3) to prepare and sign the  agreement by all parties; 4) to implement the agreement; 5) to  individualize purchases management; 6) to evaluate clinical results, and  7) to issue an annual report.

Impact of adherence on subcutaneous interferon beta-1a effectiveness administered by Rebismart in patients with multiple sclerosis.

Background: Adherence to disease-modifying drugs (DMDs) is one of the key factors for achieving optimal clinical outcomes. Rebismart is an injection device for subcutaneous administration of interferon beta-1a (INF β-1a) that is also able to monitor adherence objectively. The aim of this study was to describe adherence to INF β-1a using the said electronic autoinjection device and to explore the relationship between adherence and relapses in a Spanish cohort.

Lithium citrate as treatment of Canavan disease.

Canavan disease is a rare autosomal recessive leukodystrophy characterized by abnormal accumulation of N-acetyl aspartate (NAA) in brain white matter. Currently, there is no cure for this disease, and management of patients consists mainly of treating symptoms. We describe a 3-month-old girl who was hospitalized for poor head control and decreased muscle tone.