The international liver glycogen storage disease (GSD) priority setting partnership (IGSDPSP) was established to identify the top research priorities in this area. The multiphase methodology followed the principles of the James Lind Alliance (JLA) guidebook. An international scoping survey in seven languages was distributed to patients, carers, and healthcare professionals to gather uncertainties, which were consolidated into summary questions. The existing literature was reviewed to ensure that the summary questions had not yet been answered. A second survey asked responders to prioritize these summary questions. A final shortlist of 22 questions was discussed during an international multi-stakeholder workshop, and a consensus was reached on the top 11 priorities using an adapted nominal group technique.In the first survey, a total of 1388 questions were identified from 763 responders from 58 countries. These original uncertainties were refined into 72 summary questions for a second prioritization survey. In total 562 responders from 58 countries answered the second survey. From the second survey, the top 10 for patients, carers and healthcare professionals was identified and this shortlist of 22 questions was taken to the final workshop. During the final workshop, participants identified the worldwide top 11 research priorities for liver GSD. In addition, a top three research priorities per liver GSD subtype was identified.This unique priority setting partnership is the first international, multilingual priority setting partnership focusing on ultra-rare diseases. For more information click here.
Alkaptonuria (AKU) is an ultrarare autosomal recessive disorder (MIM 203500) that is caused byby a complex set of mutations in homogentisate 1,2-dioxygenasegene and consequent accumulation of homogentisic acid (HGA), causing a significant protein oxidation. A secondary form of amyloidosis was identified in AKU and related to high circulating serum amyloid A (SAA) levels, which are linked with inflammation and oxidative stress and might contribute to disease progression and patients’ poor quality of life. Recently, we reported that inflammatory markers (SAA and chitotriosidase) and oxidative stress markers (protein thiolation index) might be disease activity markers in AKU. Thanks to an international network, we collected genotypic, phenotypic, and clinical data from more than 200 patients with AKU. These data are currently stored in our AKU database, named ApreciseKUre. In this work, we developed an algorithm able to make predictions about the oxidative status trend of each patient with AKU based on 55 predictors, namely circulating HGA, body mass index, total cholesterol, SAA, and chitotriosidase. For more information click here.
Instruction for the Applicants on how to follow the application status and next steps of the process updated
The European commission have posted instruction for the applicants on how to follow the application status and next steps of the process updated. The candidates have now the possibility to access a platform called “SANTE ERN HCP Application Status platform” directly from the SANTE Data Collection Platform which holds their ERN application. For more information click here.
Segmental progeroid syndromes (SPS) are rare hereditary diseases in which the affected individuals show signs of premature aging in more than one organ or type of tissue. We review the clinical and genetic features of some of these syndromes and discuss the extent to which their study affords a complementary opportunity to study aging processes in general. Segmental progeroid syndromes are a complex group of diseases with overlapping clinical features. Current research efforts focus on the elucidation of the molecular mechanisms of these diseases, most of which are very rare. This should enable the development of treatments that might be applicable to general processes of aging as well. For more information click here.
Amyotrophic lateral sclerosis is a fatal neurodegenerative disorder with progressive deterioration of both upper and lower motor neuron functions. It is a rare disease with one study demonstrating a prevalence of 3.9 cases per 100,000 in the USA in the year 2010-2011. It is a fatal disease with most of the deaths resulting from respiratory failure. There is no cure of this illness with some evidence supporting an improved median survival by two to three months with Riluzole (one of the agents used for treatment). Not much is known about the possible etiologies of ALS, a few studies have shown a possible likely association of ALS with various malignancies. Here we present an interesting case of a 35-year-old female with a diagnosis of chronic myeloid leukemia for seven years presented with a sub-acute decline in her motor function. For more information click here.
Diagnostic Exome Sequencing yields a single genetic diagnosis in approximately 30% of cases, and according to recent studies the prevalence of identifying two genetic conditions in a single individual ranges between 4.6 and 7%. We present a patient diagnosed with three different rare conditions, each explained by a pathogenic mutation in a different gene. A 17 year old female was evaluated for history of motor and speech delay, scoliosis, distinctive craniofacial features and dry skin in the Department of Clinical Genomics at Mayo Clinic. Previous diagnostic testing was unrevealing including biochemical testing, echocardiogram, abdominal ultrasound and electroencephalogram. For more information click here.
Peripheral neuropathy, organomegaly, endocrinopathy, monoclonal protein and skin changes (POEMS) syndrome is a rare disease, and only in a minority of cases, causes an impairment of kidney function. Here, we describe a case of a 55-year-old man with a history of POEMS syndrome who presented with acute kidney injury following a routine blood test. On further investigation, a relapse in POEMS syndrome was diagnosed, uniquely isolated to renal involvement. For more information click here.
The European commission published a document with the last uptate of Frequently Asked Questions (FAQ) and Specific criteria for the ERNs call for membership. FAQ include the most common questions like: what is an ERN; what is the role of the Board of MS; are only rare diseases included in the scope of ERNs; How to apply to become a member of an ERNs; how will applications be assessed; what does the conflict of interest policy cover and many more. For more information click here.
Current American Academy of Pediatrics guidelines for children with Down syndrome (DS) recommend a complete blood count (CBC) at birth and hemoglobin annually to screen for iron deficiency (ID) and ID anemia (IDA) in low-risk children. We aimed to determine if macrocytosis masks the diagnosis of ID/IDA and to evaluate the utility of biochemical and red blood cell indices for detecting ID/IDA in DS. We reviewed data from 856 individuals from five DS specialty clinics. Data included hemoglobin, mean corpuscular volume, red cell distribution width (RDW), percent transferrin saturation (TS), ferritin, and c-reactive protein. Receiver operating characteristic curves were calculated. Macrocytosis was found in 32% of the sample. If hemoglobin alone was used for screening, all individuals with IDA would have been identified, but ID would have been missed in all subjects. RDW had the highest discriminability of any single test for ID/IDA. The combination of RDW with ferritin or TS led to 100% sensitivity, and RDW combined with ferritin showed the highest discriminability for ID/IDA. We provide evidence to support that a CBC and ferritin be obtained routinely for children over 1 year old with DS rather than hemoglobin alone for detection of ID. For more information click here.
European Reference Networks (ERNs) were created under the 2011 Directive on Patient Rights’ in Cross-Border Healthcare. They are based on the voluntary cooperation of Member States that contribute to the ERNs’ activities in accordance with their national legislation. ERNs are operational since March 2017. To ensure a proper and sustainable functioning of the ERNs and to reap all benefits for patients suffering from rare and low prevalence complex diseases across the EU, the ERNs need to be linked in a clear and stable way to the healthcare systems of the Member States. These are issues of key importance and demand tangible actions. This Statement aims to give incentives to Member States to further enhance the integration process based on the input provided by the Working Group on Integration. Member States are encouraged to facilitate the integration of ERNs to their healthcare systems by: assessing and if needed adapting or updating the national policy and/or legal framework; creating appropriate (clear and well-defined) patients’ pathways in order to improve the care and management of patients with complex or rare diseases; developing clear systems for referral to ERNs; developing a clear strategy for communicating and disseminating information about ERNs; reflecting on the means to best support. For more information click here.