Patient portal
The Pediatric Institute of Rare Diseases (IPER) at the SJD Barcelona Children's Hospital makes leaps forward in the treatment and research of rare diseases.
As a reference tertiary-care university hospital, at the SJD Barcelona Children's Hospital, we treat complex patients referred from all over Catalonia, Spain and the rest of the world. Among these patients, over the years we have traditionally handles a considerable number of patients with rare diseases, which affect less than five in 10,000 people.
We have experience with over 1,200 types of rare diseases. Three quarters of these cases involve children under four years old, classing them as ultra-rare diseases. That is why we are one of the most experienced facilities in Spain in the management of rare diseases.
Our broad experience makes us unique, and, consequently, in 2015, the hospital created a targeted transversal facility called the Pediatric Institute of Rare Diseases (IPER), whose main objective is to make progress in the treatment of and research into rare diseases.
If you would like to get in touch with the IPER for a patient assessment at the SJD Barcelona Children's Hospital, send us a request.
Accreditations
We are part of ERN-Ithaca, the European Reference Network for Rare Malformation Syndromes, Intellectual and Other Neurodevelopmental Disorders.
Likewise, we are also one of the three members of the first Network of Units of Clinical Expertise (XUEC) in rare diseases, created by the Catalan Health Service.
Why the SJD Barcelona Children's Hospital?
We have treated more than 12,000 patients with rare diseases in recent years.
Our wide-ranging experience
Our Department has treated more than 12,000 patients with rare diseases in recent years.
- More than 20% of children who have this type of disease and their families undergo between one and three years of symptoms until they are diagnosed. Our vast experience allows us to make accurate diagnoses for these patients.
- We have some advanced diagnostic tools, such as a genome-based diagnostic platform, which is essential given that 80% of these conditions have a genetic basis.
Each of our patients is assigned a case manager: a staff member whose job it is to coordinate healthcare provision, organise scheduling and make life as easy as possible for families.
Comprehensive care for patients and their families
Every patient has a case manager who coordinates their care, organising their schedule and making families' lives as easy as possible.
- We provide comprehensive care, which involves a multidisciplinary team of professionals. We rely on case managers, who coordinate care for each one of our patients. In addition to providing comprehensive treatment for children, we plan their visits, tests and check-ups to fit in with the daily lives of patients and their families.
- We offer face-to-face and virtual consultations. We keep in touch with patients and families through our Patient Portal. We provide care-related and psychosocial support and guidance on diagnoses and treatments.
We research a huge number of rare diseases. As such, patients can contribute to and benefit from the progress we make.
Research and dissemination
We are currently researching numerous rare diseases. Patients can therefore contribute to and benefit from the advances we are making.
- We are a leading national centre for research into rare diseases. Through the Paediatric Research Institute which the University of Barcelona (UB) and the Polytechnic University of Catalonia (UPC) work with, and through our participation in CIBER on Rare Diseases (CIBERER), we conduct different lines of research in the field of rare conditions.
- The Clinical Research Unit at SJD Barcelona Children's Hospital provides paediatricians the chance to develop and take part in clinical trials.
- We are connected across the world. One of the main difficulties investigators face when starting clinical research on a rare condition is getting a significant sample of patients, as that number will be small in a single country. Therefore, one of the tools of the Institute for Rare Childhood Disorders is platform 2.0, Rare Commons, which connects investigators and patients with uncommon diseases across the world, so that they can work together to understand and research these conditions.
- We do significant outreach and contact patients and families electronically through the Rare Commons and Metabolic Guide portals.
Specialisms and services
Team
We shine a light on the unknown, to help care for and cure children with rare diseases.
Family events on World Rare Disease Day
Patient stories
Clinical research
The Pediatric Institut for Rare Diseases (IPER) conducts different clinical studies. We research Lowe Syndrome, congenital defects related to glycosylation, neurodegeneration with brain iron accumulation (NBIA), in cooperation with Neurology, and hereditary retinal dystrophies (Stargardt disease, Leber congenital amaurosis, achromatopsia, X-linked retinoschisis and cone dystrophy), in cooperation with Ophthalmology.
The scientific activities of the IPER also include research carried out in the Genetic and Molecular Medicine Department and the Paediatric Research Institute of SJD Barcelona Children's Hospital (IRSJD).
Basic and translational research
The Neurogenetics and Molecular Medicine Group of IRSJD, which aims at understanding cellular, molecular, pathophysiological and therapeutic bases of neurogenetic disorders, uses genomic approaches, cell models and animal models in transgenic and knockout mice, and preclinical trials.
We research neuromuscular diseases (Charcot-Marie-Tooth disease, Friedreich's ataxia), central nervous system disorders such as Parkinson's disease and other movement disorders, Menkes Syndrome and neurodevelopmental disorders, such as Coffin-Siris syndrome.
Research
Clinical research
At the Pediatric Institute for Rare Diseases (IPER), we carry out several kinds of clinical research projects. We research Lowe syndrome, congenital glycosylation defects, neurodegeneration with brain iron accumulation (NBIA) in partnership with the Neurology Department, as well as hereditary retinal dystrophy (Stargardt disease, Leber congenital amaurosis, achromatopsia, X-linked retinoschisis and cone dystrophy) in collaboration with the Ophthalmology Department.
The scientific activity of IPER also involves research projects that are conducted in the Genetic and Molecular Medicine Department and the SJD Research Institute (IRSJD).
Basic and translational research
At the IRSJD, the Neurogenetics and Molecular Medicine work group can be found, aimed at learning about the cellular, molecular, physiopathological and therapeutic foundations of neurogenetic disorders. They use genomic estimation, cellular models and animal models in transgenic and knockout mice, as well as preclinical trials.
We research neuromuscular diseases (Charcot-Marie-Tooth neuropathy, Friedreich ataxia), diseases of the central nervous system, such as Parkinsons and other movement disorders, Menkes disease and neurodevelopment disorders, such as Coffin-Siris syndrome.
Furthermore, the research group into Genomics for diagnosing rare diseases develops genomic analysis tools to diagnose neurological disorders and other rare genetic diseases.
Teaching
We are building a community to bring together patients, caregivers, clinicians and researchers to join forces and make an impact in rare diseases.
Online medical advice and practical information to meet the needs of patients living with congenital metabolic diseases and their families.
Contact us
In the IPER we can make the assessment of a patient. To start the process send us your request through the following form.