Rare Disease Day 2019
Published on 22 February 2019
Rare disease day (February 28th 2019) is being marked by various events around Europe and globally. Follow the events here
New funding for the Registry
Published on 21 February 2019
Thanks to generous support from an alliance of patient support groups, French Wolfram Association, Snow Foundation, and Eye Hope Foundation, there is funding to upgrade the EURO-WABB registry. Professor Richard Sinnott of University of Melbourne is undertaking this work, through a contract with University of Birmingham. This work will be completed over the next 3 months. Please bear with us while the registry, database and site is being upgraded!
News from European Society for Paediatric Endocrinology
Published on 20 February 2019
Applications Open for 2019 ESPE Research Fellowship
The European Society for Paediatric Endocrinology (ESPE) provides one Research Fellowship to support young paediatricians or scientists to conduct research in any field of endocrinology at leading institutions worldwide. The Research Fellowship is sponsored by Novo Nordisk Health Care AG in Switzerland.
The fellowship can be held in the applicant’s current department or could be held at another institution with the relevant expertise in paediatric endocrinology. If the fellowship is held in the applicant’s current department, a period of time spent in another institution to, for instance, learn another technique, will be viewed favourably. Projects related to diabetes and obesity will not be considered in this call.
To be eligible the applicant must:
- Be proposed by their current Supervisor/Head of Department, who must be an ESPE member.
- Be an ESPE member or have applied for membership.
- Be based in Europe at the time of application.
One research fellowship grant of €125,000 is available for up to two years of research training in a centre of excellence. An additional €15,000 is available for consumables.
Applications should be submitted by the deadline of 30 April 2019.
Cures Within Reach
Published on 19 February 2019
Cures Within Reach is a global organisation that improves patient quality and length of life by leveraging the speed, safety and cost-effectiveness of medical repurposing research, driving more treatments to more patients more quickly.
What they do
- Ask researchers for their repurposing ideas, creating a unique pipeline of potential medical solutions that are affordable to test and can be immediately incorporated into clinical care. All projects are vetted through internal and independent science review.
- Create financing for repurposing research through philanthropic funding that supports the best research coming through our pipeline, creating the greatest patient impact.
- Connect funders to high-impact repurposing projects, including individuals, foundations, patient advocacy groups, and investors wanting to make a difference in a particular therapeutic area.
- Facilitate the entire research process, from the agreement with the academic institution to reporting the progress of the research through completion, publication and dissemination of results.
- Their facilitated research has created more than 13 treatments in use by patients today or funded for larger confirmatory clinical trials.
- Repurposing a Generic Tuberculosis Vaccine to Treat Type 1 Diabetes
- Repurposing a Transplant Drug Saves Kids with ALPS, a Rare but Deadly Blood Disorder
- Repurposing a Liver Cyst Laser Device to Eliminate Side Effects of Prostate Cancer Treatment
- Repurposing a Device to Help Restore Function Lost to Brain and Nerve Disorders
In 2015, they launched CureAccelerator, the world’s first interactive, online platform dedicated to repurposing research. By connecting researchers, funders, the biomedical industry and patient groups, CureAccelerator drives the pace of repurposing research, to drive more treatments to more patients more quickly.
CureAccelerator Live! for Rare Diseases: Focusing on repurposed treatments impacting patients with any rare disease. Eligible submissions can come from North America and Europe. The event will be held in Spring/Summer 2019 in a US city. Submission deadline: 2/28/19
AstraZeneca funding stream
Published on 18 February 2019
AstraZeneca has a funding stream to support externally sponsored scientific research in relation to expanding the knowledge related to a company product and/or its associated disease area(s). This research can advance science and contribute to the development of better medicines for patients consistent with the company’s overall research and global development strategies.
Externally Sponsored Scientific Research Externally Sponsored Scientific Research (ESR) is research that is initiated and managed by a Non-Company Researcher who assumes the legal and regulatory responsibility for the conduct and management of the research as defined by applicable regulations and laws of the country involved. They support: Interventional Clinical Research (Phase I - IV) - involving authorized, unauthorized or discontinued Company compounds no longer being developed.
Observational Research (i.e. Real World Evidence (RWE)) - the product of interventional or non-interventional research, utilising data collected through observation of current clinical practice and/or patient reported experience. Non-Clinical Research (pre-clinical research) - for compounds in Phase III development or beyond in vitro, in vivo or ex vivo biomedical research not performed on human subjects such as: pharmacodynamic, pharmacokinetic, animal, microbiologic, human biological samples (biomarker, diagnostic assay). Compounds in pre phase III development are open for externally sponsored research submissions via the AstraZeneca Open Innovation portal.
For more information, please follow the link: https://www.astrazeneca.com/Partnering/externally-sponsored-scientific-research.html
Published on 17 February 2019
Health29 is a unique diagnostic platform which uses artificial intelligence (AI) and deep learning to empower physicians and help speed up the diagnosis process. Health29 uses both patients’ phenotypes and genotypes. Health29 was developed by Julian Isla, who is a software engineer for Microsoft and has a son with Dravet Syndrome For additional information on this initiative and the meeting at Birmingham Women’s and Children’s Hospital in January, please see the link below: https://cypmedtech.nihr.ac.uk/2019/01/25/health29-meeting/
Published on 16 February 2019
European Reference Networks (ERN) are virtual networks involving Reference Centers across Europe. They aim to tackle complex or rare medical diseases or conditions that require highly specialised treatment and a concentration of knowledge and resources.
The European Reference Network on rare endocrine conditions (Endo-ERN) aims to improve access to high-quality healthcare for patients with hormonal disorders. Endocrine conditions are often complex and require a long period of care due to chronic disease without being life-threatening. Therefore, endocrine care requires equal distribution of paediatric and adult care. Endo-ERN aims to provide this care for patients throughout their entire lives and to reduce and ultimately abolish inequalities in care for patients with rare endocrine disorders in Europe, through facilitating knowledge sharing and facilitating related healthcare and research. Information flyers are available in English, German, and Italian.
For genetic disorders of glucose and insulin homeostasis 3 subthematic subgroups are defined:
- Insulin-resistance syndrome,
- Hyperinsulinism and other forms of hypoglycemia
- Rare diabetes mellitus
All guidelines for disorders of insulin and glucose homeostasis recommend education in glucose monitoring, diet and pharmacologic treatment with insulin and/or other medication during paediatric long-term care. The purpose of our network is to provide modern, evidence-based care through a multidisciplinary approach to children and adolescents suffering from a rare form of diabetes, hyperinsulinism or lipodystrophy. These include patients with an exceptional cause of diabetes (e.g. insulin-receptor mutations) , patients with severely unstable and/or difficult to treat diabetes (e.g. neonatal diabetes), patients with uncommon comorbidities (e.g. WABB syndromes).
ICD-10 code: E72.8, E71.3, E16.1
Familial hyperinsulinism (referred to as FHI in this GeneReview) is characterized by hypoglycemia that ranges from severe neonatal-onset, difficult-to-manage disease to childhood-onset disease with mild symptoms and difficult-to-diagnose hypoglycemia. Neonatal-onset disease manifests within hours to two days after birth. Childhood-onset disease manifests during the first months or years of life. In the newborn period, presenting symptoms may be nonspecific, including seizures, hypotonia, poor feeding, and apnea. Insulin-resistance syndrome
Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome; see these terms) characterized by intrauterine and mainly postnatal severe growth retardation. Leprechaunism is associated with a characteristic dysmorphic facies (resembling that of the ‘leprechauns’ in Irish folk traditions), atrophic subcutaneous adipose tissue (lipoatrophy) and muscular hypotrophy. Signs of virilization are often observed in young girls. Biologically, episodes of hypo- and hyperglycemia are observed along with marked hyperinsulinemia due to an extreme resistance to insulin.
Berardinelli-Seip congen Lipodystrophy
ICD-10 code:E11, E13, E88.1
Berardinelli-Seip congenital lipodystrophy (BSCL) is characterized by the association of lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. BSCL belongs to the group of extreme insulin resistance syndromes, which also includes leprechaunism, Rabson-Mendenhall syndrome, acquired generalized lipodystrophy, and types A and B insulin resistance. BSCL is associated with insulin resistance resulting in clinically overt diabetes mellitus with onset during the second decade. Complications include hypertrophic cardiomyopathy, a fatty liver with hepatic dysfunction, muscular hypertrophy, a number of endocrine disturbances (accelerated growth in infancy, precocious puberty etc.) and bone cysts with spontaneous fractures.
Rare diabetes mellitus
Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Onset of WS1 lies in the first decade. Patients present a progressive reduction of visual acuity and loss of color vision. Less frequent ocular abnormalities include abnormal papillary light reflexes, nystagmus, cataracts, pigmentary maculopathy, retinopathy (pigmentary or diabetic) and glaucoma. 50% of patients also develop DI and present some degree of deafness.
MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes.
Neonatal diabetes mellitus presents as hyperglycemia, failure to thrive and, in some cases, dehydration and ketoacidosis which may be severe with coma, in a child within the first months of life. TNDM infants develop diabetes in the first few weeks of life but go into remission in a few months, with possible relapse to a permanent diabetes state usually around adolescence or as adults. The pancreatic dysfunction may be maintained throughout life, with relapse initiated at times of metabolic stress such as puberty or pregnancy.
ICD-10 code:E10 D53.1
Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure. Diabetes occurs early, generally before six months of age, is permanent and insulin-dependent from the onset. Skeletal dysplasia generally manifests within the 1st or 2nd year of life, and is associated with short stature (dwarfism with short trunk). Deficient mineralization or dysplastic changes, affecting the long bones, pelvis and vertebrae, but usually not the skull, may be seen on radiography as early as diabetes onset.
Thiamine-responsive megaloblastic anemia
Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness. TRMA can present at any age between infancy and adolescence, although often not all key features are manifested at onset. TRMA is typically characterized by the triad of megaloblastic anemia responding to thiamine, sensorineural deafness, and non-type I diabetes mellitus. Clinical megaloblastic anemia manifestations may comprise hyporexia, lethargy, cephalalgia, pallor, diarrhea, and parasthesia in hands and feet. The variable phenotypic presentation of TRMA syndrome may cause a significant delay between the onset of symptoms and an accurate diagnosis.
For update on January Newsletter see link https://endo-ern.eu/newsletter/newsletter-1901/
International clinical trial recruiting Wolfram patients
Published on 15 February 2019
Thanks to generous funding support from the UK Medical Research Council, patients with Wolfram syndrome are being recruited to an international clinical trial of repurposed medicine to slow disease progression. Please see link to clinical trials.gov: https://clinicaltrials.gov/ct2/show/NCT03717909?cond=Wolfram+Syndrome&rank=1
Phase II clinical trial of agent to ameliorate Alstrom disease process
Published on 14 February 2019
Industry interest in the rare disease Alstrom syndrome has led to a Phase II clinical trial of an anti-fibrotic agent to ameliorate the disease process in Alstrom. For more information please see the link to clinical trials.gov: https://clinicaltrials.gov/ct2/show/NCT03184584?cond=Alstrom+Syndrome&rank=1
BPSU Conference 2017
Published on 20 February 2017
The British Paediatric Surveillance Unit is hosting a conference on new treatments for children with rare diseases on 27th February 2017. Diseases covered include Wolfram, gene therapy and Batten’s disease. Please visit www.rcpch.ac.uk.
Finducare Conference 2017
Published on 20 February 2017
The charity Findacure are holding a scientific conference on drug repurposing for rare diseases on Rare Disease Day 28 February in London. Tim Barrett will present data on drug repurposing in Wolfram. For more info please visit: www.findacure.org.uk.
Bardet-Biedl Family Conference 2017
Published on 20 February 2017
The 2017 family conference for Bardet Biedl syndrome is on 21-23 April in Northampton. Please visit www.lmbbs.org.uk for further information.
Wolfram Support and Information Day 2014
Published on 16 October 2013
After the huge success of last year’s conference, the 2014 Wolfram Support and Information Day is taking place on Saturday 29th November at the Hilton Northampton.
We are still finalising the format of the day but it will be similar to last year; with presentations in the morning and Question and Answer sessions with the experts after lunch. The experts who have confirmed they are coming so far are: Professor Tim Barrett, Professor Raj Gupta (Neurology), Dr Claire Leonard (Psychology), Dr Liam McCarthy (Urology) and Dr Fumi Urano from Washington University School of Medicine.
We’ll have a separate “Chill Out” room for young adults, where they can relax and take time out from what can be an intense day! We will also have exhibitors for families to talk to during breaks, including Action for Blind People, SENSE, Bayer and Roche.
Italian Alstrom Syndrome meeting
Published on 04 October 2013
An Italian family meeting on Alstrom Syndrome will be held on Saturday 5th October 2013. For further details please visit: www.millepini.it
Health Professional Guidelines
Published on 17 September 2013
9th Joint Meeting of Paediatric Endocrinology
Published on 17 September 2013
The 9th Joint Meeting of Paediatric Endocrinology will be held in Milan, Italy from the 19th - 22nd September 2013. We are delighted that the Euro-Wabb project will be showcased in a symposium on the opening day of the meeting. Our guest speakers are Professor Fumi Urano from Washington University, St Louis, and Professor Vincent Marion from Strasbourg, France.
Euro-WABB Project Brochure
Published on 17 September 2013
Clinical Utility Gene Card for Alstrom syndrome
Published on 03 June 2013
The Clinical Utility Gene Card for Alstrom syndrome which was first published in 2011. Click HERE to read