Paediatric and Rare Disease Registries and other studies

SwissPedRegistry

Sandra Hunziker, Claudia Kuehni

SwissPedRegistry is a research platform for pediatric registries. It is part of SwissPedNet, the Swiss research network of clinical pediatric hubs. SwissPedRegistry coordinates, in close collaboration with clinicians, several national registries and cohort studies. It provides expertise and advice for the development and conduct of epidemiological or clinical registries collecting data on children or persons of any age. This includes advice on databases for registries; dataset and data collection; data transfer and linkage; ethics applications; questionnaire design; contracts, and data safety measures. SwissPedRegistry can also host registries if this is desired. SwissPedRegistry also contributes data and expertise to international registries and research projects. It collaborates closely with Swiss RDL – the medical Registries and Data Linkage center at the ISPM Bern – in particular for data linkage and software development.

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Swiss Rare Disease Registry (SRDR)

Cheryl von Arx, Natalie Bayard, Claudia Kuehni

The Swiss Rare Disease Registry (SRDR) is a national, population-based registry for children and adults with rare diseases, and is jointly led by the University of Bern’s Institute of Social and Preventive Medicine (ISPM), the University of Zürich, and the University Children's Hospital Zürich, Switzerland. The overall aim of the SRDR is the collection of basic data on all people with rare diseases in Switzerland, the constitution of a platform for clinical and epidemiological studies, and the facilitation and documentation of patient participation in national and international trials.

The concept for the SRDR has been approved by large set of stakeholders and has received the approval of the ethics committee. We now are seeking funding to set up the registry, identify patients and collect data.

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Swiss Growth Study

Grit Sommer, Claudia Kuehni

Recombinant human growth hormone is increasingly used in children, but data on long-term risks and safety is sparse. Until 2010, Switzerland was one of the few countries without national prospective documentation of this long and costly treatment. To evaluate efficacy and long-term effects of growth hormone treatment in Switzerland, the Swiss Growth Study started in 2010 and retrospectively collected data on all patients diagnosed since 1985. All Swiss pediatric endocrinologists help to register data of treated patients. The Swiss Growth Study collects data on final height, quality of life, cancer incidence and mortality. It contributes to understanding long-term effects of growth hormone treatment and helps to improve treatment quality and service planning. It has also shared anonymous data with the European SAGhE study (Safety of Growth Hormone Treatment in Europe).

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Swiss Paediatric Renal Registry (SPRR)

Claudia Kuehni

The Swiss Paediatric Renal Registry (SPRR) is a national registry for children with end-stage renal disease. It collects data to enable research on the underlying diseases, comorbidities, current treatments, measurements, long-term follow-up and quality of life. The annual report allows pediatric nephrologists to discuss current treatment strategies used in Switzerland and to compare them to the outcomes in other countries. The SPRR has been contributing since 2009 to studies of the registry from the European Society for Paediatric Nephrology.

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Swiss Cerebral Palsy Registry (Swiss-CP-Reg)

Anne Tscherter, Sandra Hunziker, Claudia Kuehni

The Swiss Cerebral Palsy Registry (Swiss-CP-Reg) investigates health-related issues in people with cerebral palsy (CP) and is located at the Institute of Social and Preventive Medicine (ISPM), University of Bern, Switzerland. It includes all children, adolescents and adults who are diagnosed with CP and are born, treated or living in Switzerland. We include medical data routinely collected in clinics or practices (causes of CP, classification, comorbidities, therapies, treatments, etc.). In addition, we send questionnaires to people with CP and their families to learn more about the family background, quality of life, healthcare and education. We aim to use the results to improve the future care and well-being of individuals with CP.

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Swiss Pediatric Inflammatory Brain Disease Registry (Swiss-Ped-IBrainD)

Lorena Hulliger, Claudia Kuehni

The Swiss Pediatric Inflammatory Brain Disease Registry (Swiss-Ped-IBrainD) is a nationwide registry where medical information on children with inflammatory brain diseases is gathered. Multiple Swiss clinics have agreed to participate in the registry and provide routinely acquired clinical data (such as diagnosis, disease course, therapies, etc.) whenever a patient or his/her parents consent to it. The goal of the registry is to reflect the current situation of children with IBrainD in Switzerland, which in turn should help to elaborate strategies to improve their standard of care and quality of life. Additionally, the Swiss-Ped-IBrainD facilitates research in the field and the inclusion of Swiss patients in current clinical trials. The registry is hosted by the Institute of Social and Preventive Medicine (ISPM), University of Bern, Switzerland.

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Swiss Registry for Neuromuscular Disorders (Swiss-Reg-NMD)

Andrea Mathis, Dominique Baumann, Anne Tscherter, Andrea Klein, Claudia Kuehni

The Swiss Registry for Neuromuscular Disorders is a national patient registry for children and adults living with spinal muscular atrophy (SMA), Duchenne and Becker muscular dystrophy (DMD and BMD), LAMA2-related muscular dystrophy (LAMA2-RD), and collagen VI-related myopathy (COL-6). The Swiss-Reg-NMD aims to answer central questions such as “How are people with a neuromuscular disease in Switzerland?”, “How are they treated?”, “Which therapies are effective?”. To this purpose, we collect detailed, health-related information from medical records (e.g. on diagnosis, therapies or medications). We also send questionnaires to patients and/or their families to ask about their needs, quality of life, education, nutrition, etc. The analysis of this data helps to optimize the treatment and inclusion of people with a neuromuscular disease in Switzerland. The registry is led by specialized physicians from all over Switzerland and is hosted by the Institute of Social and Preventive Medicine (ISPM), University of Bern, Switzerland.

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Swiss Registry for patients with Primary Ciliary Dyskinesia (CH-PCD)

Myrofora Goutaki, Claudia Kuehni, Leonie Schreck

CH-PCD is a national registry for children and adults with PCD who live or receive care in Switzerland, hosted by the Institute of Social and Preventive Medicine (ISPM), University of Bern. The registry collects epidemiological and clinical information both from participants and health care professionals. It contributes to our understanding of the epidemiology of this orphan disease, clinical course, health care and quality of life, and can serve as a sampling frame for clinical studies. Anonymous data can be shared with multicentre studies such as the ERN-Lung PCD Registry, the EPIC-PCD cohort and the international PCD cohort.

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Development, Validation and Evaluation of an Adult and Pediatric Eosinophilic Esophagitis Activity Index (EEsAI): A Prospective Multicenter Study

Ekaterina Safroneeva, Claudia Kuehni, Marcel Zwahlen

This study aims to develop questionnaires that enable standardized assessment of disease severity in adult and pediatric eosinophilic esophagitis patients.

Pediatric personalized research network Switzerland (SwissPedHealth) – a Joint Pediatric National Data Stream

Claudia Kuehni, Fabiën Belle, Yara Shoman, Lorenz Leuenberger, Ursula Kühnel, Grit Sommer, Ben Spycher

SwissPedHealth aims to standardize routine clinical data from pediatric hospitals in Switzerland and make them findable, accessible, interoperable, and reusable (FAIR). It builds on its predecessor SwissPedData that defined core data elements for pediatric hospitals in Switzerland. The defined data elements are routinely collected at pediatric hospitals e.g., vital signs, diagnoses, lab results.

The SwissPedHealth project will:

• develop reusable informatics, governance, and training resources to make routine clinical data available for research;
• create a dataset from 7 Swiss pediatric hospitals (Basel, Bern, Geneva, Lausanne, Lucerne, St. Gallen, Zurich) containing the core data elements of SwissPedData;
• demonstrate the potential of using routine clinical data for pediatric research in four nested research projects and a Light house project.

The Child and Adolescent Health research group, led by Claudia Kühni, Is one of the key actors in this national data stream. ISPM also leads two nested research projects, which investigate growth and obesity in Swiss children (NP1, SwissPedGrowth), and effectiveness and quality of cancer registration in Swiss children (NP2, SwissPedCancer). This project is funded by the federal initiatives Swiss Personalized Health Network (SPHN) and Personalized Health Related Technologies (PHRT).

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SwissPedHealth – Preparing Personalized Pediatric Primary care (SwissPedHealth-PREPP)

Claudia Kuehni, Fabiën Belle, Lorenz Leuenberger

The SwissPedHealth-PREPP project aims to improve the quality of pediatric health care by exchanging hospital data (SwissPedHealth) with primary care data through real time data sharing.

SwissPedHealth-PREPP will:

• demonstrate the feasibility to link databases of pediatric primary care practices and hospitals;
• test the benefit of the newly built infrastructure in 4 real world use-cases.

In use-case 2, which is lead by ISPM Bern, we will explore how primary care data (longitudinal anthropometric measurements) could complement patient hospital data to improve obesity management. SwissPedHealth-PREPP is a collaborative project funded by the federal initiative Swiss Personalized Health Network (SPHN) and lead by Prof. Jan Bonhoeffer (UKBB, Basel).

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SPHN-SPAC: Using routine health care data to facilitate clinical cohort studies

Claudia Kühni, Eva Pedersen, Christina Mallet, Mari Sasaki, Franco Romero, Ben Spycher

SPHN-SPAC aims to reuse and link available routine healthcare data from hospitals to the Swiss Pediatric Airway Cohort (SPAC). For large cohort studies like SPAC (longitudinal data from > 4000 families) the workload associated with manual data collection and entry becomes increasingly unsustainable and costly.

Since the SPAC study includes more than 4000 children and families, the workload associated with manual data collection and entry of hospital records in the study database is becoming increasingly unsustainable and costly.

SPHN-SPAC will:

• explore, set up, validate, and implement procedures enabling automatic data extraction from hospitals;
• assess the data quality of the automatic data extraction;
• support physicians to standardize labelling of common respiratory diagnoses;
• compare study participants to non-participants;
• study respiratory health over time and analyze repeated lung function tests.

SPHN-SPAC is a demonstrator project form the Swiss Personalized Health Network (SPHN) and involves the three children’s hospitals in Bern, Zurich, and Lucerne. The study is lead by Claudia Kühni at ISPM Bern.

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Completed projects

• Safety and Appropriateness of Growth hormone treatments in Europe (SAGhE)
  Claudia Kuehni, Grit Sommer

(Please note that only members of staff of ISPM Bern are listed.)