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Research projects
CANADA
Ontario
OTTAWA
Emerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
Children's Hospital of Eastern Ontario
Newborn Screening Ontario
CANADA
Ontario
OTTAWA, ONTARIO
Emerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
University of Ottawa
Department of Epidemiology and Community Medicine
GERMANY
Baden-Württemberg
HEIDELBERG
Longitudinal Study of Urea Cycle Disorders
Zentrum für Kinder- und Jugendmedizin des Universitätsklinikums Heidelberg
Klinik für Kinderheilkunde I - Sektion für Neuropädiatrie und Stoffwechselmedizin
ITALY
LAZIO
ROMA
The Italian Expanded newborn screening program
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
SWEDEN
Region Stockholm
SOLNA
Inborn errors of endocrinology and metabolism
Karolinska Institutet
Department of Molecular Medicine and Surgery (MMK)
SWITZERLAND
Suisse Alémanique
ZÜRICH
Enterobacteria Strain-level Characterization in Children With Inborn Errors of Metabolism (IEM)
Universitäts - Kinderspital Zürich - Eleonorenstiftung
Abteilung für Stoffwechselkrankheiten
SWITZERLAND
Suisse Romande
LAUSANNE
Cardiac Manifestations in Adult Patients With Inherited Metabolic Disease: a Case Series
Centre Hospitalier Universitaire Vaudois CHUV - Hôpital Beaumont
CMM - Centre des Maladies Moléculaires
UNITED KINGDOM
Avon
BRISTOL
MetBioNet - National Metabolic Biochemistry Network.
Southmead Hospital
North Bristol NHS Trust
UNITED KINGDOM
South Yorkshire
SHEFFIELD
MetBioNet - National Metabolic Biochemistry Network.
The Sheffield Children's Hospital
Department of Clinical Chemistry
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Basic and clinical studies in immune function and metabolism
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Metabolic engineering in humans: altered gut microbes as a therapeutic platform
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Clinical-Res-Project3
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Clinical-Res-Project2
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Clinical-Res-Project1
Institution: Information not provided - US
AUSTRIA
TIROL
INNSBRUCK
An open-label, controlled, multi-site, Phase I clinical trial to assess the ureagenesis capacity in newborns and infants up to the age of 12 months with neonatal and infantile onset of urea cycle disorders (UCD) using a 15N ammonium chloride tracer compared to newborns and infants without UCD - AT
Medizinische Universität Innsbruck
Pädiatrie I
AUSTRIA
WIEN
ADDRESS: NOT PROVIDED - AT
European post marketing registry for RAVICTI® (Glycerolphenylbutyrat), oral liquid, in cooperation with the European registry and network for intoxication type metabolic diseases - E-IMD (RRPE) - AT
Institution: Information not provided - AT
CANADA
Colombie-Britannique
VICTORIA
Silent Genomes: Reducing health care disparities and improving diagnostic success for children with genetic diseases from Indigenous populations
University of Victoria
Community Genetics Research Program/Island Medical Program
CANADA
Ontario
TORONTO
Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute
FRANCE
AUVERGNE-RHONE-ALPES
GRENOBLE
Physiopathological studies of Lowe's syndrome and Dent's disease, two clinical entities with common molecular basis?
CHU Grenoble Alpes
Laboratoire de Génétique Moléculaire: maladies héréditaires et oncologie
GERMANY
Baden-Württemberg
HEIDELBERG
NGS2025 : Evaluation of the Expansion of Newborn screening by additional 28 target diseases
Zentrum für Kinder- und Jugendmedizin des Universitätsklinikums Heidelberg
Klinik für Kinderheilkunde I - Sektion für Neuropädiatrie und Stoffwechselmedizin
ITALY
CAMPANIA
NAPOLI
Role of phosphoinositide metabolism in the structure and function of the Golgi complex and in the pathogenesis of Lowe syndrome
TIGEM - Telethon Institute of Genetics and Medicine
Laboratorio di Ricerca
ITALY
EMILIA ROMAGNA
FERRARA
RNA-based therapeutics for OTC deficiency
Università degli Studi di Ferrara - Dip. di Scienze della vita e biotecnologie
Dipartimento di Scienze della vita e biotecnologie
SPAIN
Andalucía
SEVILLA
Development of bioinformatic tools for the automatic handling of secondary findings and their use in genetic and pharmacogenetic counseling
Fundación Progreso y Salud
Área de bioinformática clínica
SPAIN
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Centro de Regulación Genómica
Archivo europeo de genomas y fenomas del CRG
SPAIN
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Clínic de Barcelona
Servicio de Inmunologia
SPAIN
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Universitari Vall d'Hebron
Laboratorio de Genética
SPAIN
Cataluña
BARCELONA
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital de la Santa Creu i Sant Pau
Servicio de Genética
SPAIN
Cataluña
BARCELONA
Animal model of urocanase deficiency
IRB Barcelona - Instituto de Investigación Biomédica
Transportadores de aminoácidos y enfermedad
SPAIN
Cataluña
BARCELONA
Therapeutical strategies for cystinuria
IRB Barcelona - Instituto de Investigación Biomédica
Transportadores de aminoácidos y enfermedad
SPAIN
Cataluña
ESPLUGUES DE LLOBREGAT
Federated network for functional genomics of undiagnosed and rare diseases, RareFunction
Fundació Sant Joan de Déu - Institut de Recerca Sant Joan de Déu
Grupo de investigación en Neurogenética y Medicina Molecular
SPAIN
Cataluña
ESPLUGUES DE LLOBREGAT
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Sant Joan de Déu Barcelona
Servicio de Laboratorio
SPAIN
Cataluña
L'HOSPITALET DE LLOBREGAT
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Universitari de Bellvitge
Unidad de Genética Molecular
SPAIN
Cataluña
L'HOSPITALET DE LLOBREGAT
Therapeutical strategies for cystinuria
IDIBELL - Instituto de Investigación Biomédica de Bellvitge
Grupo de Genética molecular humana
SPAIN
Cataluña
L'HOSPITALET DE LLOBREGAT
Cystinuria: Validation of a new cystine lithiasis biomarker in patients and design of a new treatment based on cystine lithiasis modulators identified in mouse models
IDIBELL - Instituto de Investigación Biomédica de Bellvitge
Instituto de Investigación Biomédica de Bellvitge
SPAIN
Comunidad Valenciana
VALENCIA
Therapeutical strategies for cystinuria
INCLIVA - Facultad de Medicina de la Universidad de Valencia
Grupo de investigación en fisiopatología celular y orgánica del estrés oxidativo
SPAIN
Comunidad Valenciana
VALENCIA
Characterization of macromolecular targets as a key to understanding, diagnosis and design of therapies in rare diseases
Instituto de Biomedicina de Valencia (CSIC)
Unidad de Enzimopatología Estructural
SPAIN
Madrid
ADDRESS: NOT PROVIDED - ES
A Long-Term Follow-up Study to Evaluate Safety and Efficacy of Adeno-Associated Virus (AAV) Serotype 8 (AAV8)-Mediated Gene Transfer of Human Ornithine Transcarbamylase (OTC) in Adults With Late-Onset OTC Deficiency - ES
Institution: Information not provided - ES
SPAIN
Madrid
ADDRESS: NOT PROVIDED - ES
An open-label, controlled, multi-site, Phase I clinical trial to assess the ureagenesis capacity in newborns and infants up to the age of 12 months with neonatal and infantile onset of urea cycle disorders (UCD) using a 15N ammonium chloride tracer compared to newborns and infants without UCD - ES
Institution: Information not provided - ES
SPAIN
Madrid
MADRID
Identification of new genes causing rare diseases in pediatric patients, searching of genetic pharmacological targets, and drugs discovery, the steps for a personalized medicine
Instituto de Investigación Hospital 12 de Octubre
Grupo de investigación en enfermedades raras, mitocondriales y neuromusculares
SWITZERLAND
Suisse Alémanique
ZURICH
Establishment of in vivo CRISPR-Cas base editor approaches to treat monogenetic liver diseases
ETH Zurich - Hönggerberg campus
Institute of Molecular Health Sciences
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Mitigating mitochondrial epigenetics in bone remodeling by hydrogen sulfide
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Cell and gene replacement strategies for arginase deficiency
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
The role of inhibitory neurons in microcephaly and seizure caused by asparagine synthetase (asns) deficiency
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Pharmacologic augmentation of gene therapy with n-carbamylglutamate (ncg)
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Gene therapy for urea cycle disorders
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Barriers to achieving efficient gene therapy
Institution: Information not provided - US
BELGIUM
OOST-VLAANDEREN
GENT
PANDA: A Cross-sectional Study to Measure Blood Amino Acid Levels in PKU Children on a Protein Substitute
Ghent University Hospital - UZ Gent
Centrum voor Erfelijke Metabole Aandoeningen (CEMA) - UZ Gent
CANADA
Alberta
EDMONTON
Formulation and efficacy of a corn-derived phenylalanine ammonia-lyase for the treatment of phenylketonuria (PKU) and hyperphenylalaninemias
University of Alberta
Department of Biological Sciences
CANADA
Colombie-Britannique
VANCOUVER
Formulation and efficacy of a corn-derived phenylalanine ammonia-lyase for the treatment of phenylketonuria (PKU) and hyperphenylalaninemias
Child & Family Research Institute
CANADA
Colombie-Britannique
VANCOUVER
Application of Stable Isotopes to Determine Protein Requirements in Children with Phenylketonuria (PKU)
University of British Columbia
CFRI - Child and Family Research Institute
CANADA
Colombie-Britannique
VANCOUVER
Minimally Invasive 13C-Breath Test to Examine Phenylalanine Metabolism in Children with Phenylketonuria
University of British Columbia
CFRI - Child and Family Research Institute
CANADA
Colombie-Britannique
VANCOUVER
CHAnging Rare disorders of LysInE metabolism
University of British Columbia
CANADA
Ontario
OTTAWA, ONTARIO
An innovative registry-based trials platform to improve clinical care, outcomes, and health policy for children with treatable rare diseases
University of Ottawa
Department of Epidemiology and Community Medicine
GERMANY
Baden-Württemberg
HEIDELBERG
Evaluation of a novel measuring method for the determination of phenylalanine concentrations in whole blood and a possible application for home monitoring
Zentrum für Kinder- und Jugendmedizin des Universitätsklinikums Heidelberg
Klinik für Kinderheilkunde I - Sektion für Neuropädiatrie und Stoffwechselmedizin
GERMANY
Baden-Württemberg
HEIDELBERG
CHARLIE: CHAnging Rare disorders of LysInE metabolism -DE
Zentrum für Kinder- und Jugendmedizin des Universitätsklinikums Heidelberg
Klinik für Kinderheilkunde I - Sektion für Neuropädiatrie und Stoffwechselmedizin
GERMANY
Baden-Württemberg
HEIDELBERG
Pregnancy_PKU: Effect of metabolic control on course and outcome of pregnancies in patients with phenylketonuria.
Zentrum für Kinder- und Jugendmedizin des Universitätsklinikums Heidelberg
Klinik für Kinderheilkunde I - Sektion für Neuropädiatrie und Stoffwechselmedizin
GERMANY
Baden-Württemberg
REUTLINGEN
Multicentre Study Project to Evaluate the New Generation of Protein Supplements With Glycomacropeptide (GMP) in Patients With Phenylketonuria (PKU) Aged 10 Years and Older Over a 16 Week Period.
Kreiskliniken Reutlingen
Klinik für Kinder- und Jugendmedizin
GERMANY
Bayern
NEUHERBERG
CHARLIE: CHAnging Rare disorders of LysInE metabolism -DE
Helmholtz Zentrum München
Institute of Experimental Genetics
GERMANY
Berlin
BERLIN
CORD : Collaboration On Rare Diseases
Geschäftsstelle BIH
Berliner Institut für Gesundheitsforschung
GERMANY
Mecklenburg-Vorpommern
ROSTOCK
GERMANY
Nordrhein-Westfalen
BOCHUM
CogniBONE: Pilot study of nutrition, cognition and bone health in children with phenylketonuria (PKU) CogniBONE - Cognition & Bone
Universitäts-Kinderklinik am St. Josef-Hospital
Klinik für Kinder- und Jugendmedizin
GERMANY
Nordrhein-Westfalen
BOCHUM
Investigating the impact of diet and therapy on bone health in patients with elevated phenylalanine levels/a phenylketonuria (PKU)
Universitäts-Kinderklinik am St. Josef-Hospital
Klinik für Kinder- und Jugendmedizin
ITALY
TOSCANA
FIRENZE
CHARLIE: CHAnging Rare disorders of LysInE metabolism - IT
Università degli Studi di Firenze
Dipartimento di Scienze Biomediche Sperimentali e Cliniche "Mario Serio"
ITALY
TOSCANA
SIENA
Identification and preclinical analysis of therapeutic molecules for the treatment of alkaptonuria
Università degli Studi di Siena - Presidio San Miniato
Laboratorio di biochimica metabolica
ITALY
TOSCANA
SIENA
Proteomic and clinical study of alkaptonuria physiopathology and set up a therapy for the treatment of ochronosis
Università degli Studi di Siena - Presidio San Miniato
Laboratorio di biochimica metabolica
ITALY
TOSCANA
SIENA
Clinical Development of Nitisinone for Alkaptonuria
Università degli Studi di Siena - Presidio San Miniato
Laboratorio di biochimica metabolica
ITALY
TOSCANA
SIENA
Preclinical study of therapeutic agents for the treatment of ochronotic arthropathy
Università degli Studi di Siena - Presidio San Miniato
Laboratorio di biochimica metabolica
ITALY
UMBRIA
PERUGIA
Comprehensive analysis of the molecular pathogenesis of gyrate atrophy towards the rationalization and the optimization of the therapy with vitamin B6
Università degli Studi di Perugia
Dipartimento di Medicina Sperimentale
SPAIN
Cataluña
BARCELONA
CHARLIE: CHAnging Rare disorders of LysInE metabolism - ES
Fundació Clínic per a la Recerca Biomèdica
Grupo Terapia génica y cáncer
SPAIN
Cataluña
BARCELONA
Phenylketonuria: from chilhood to adults through brain functional conectomics, cardiovascular changes, metabolomic and intestinal microbiota characteristics
Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS)
Grupo de investigación en Neuropsicología
SPAIN
Cataluña
BARCELONA
Phenylketonuria: from chilhood to adults through brain functional conectomics, cardiovascular changes, metabolomic and intestinal microbiota characteristics
Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS)
Laboratorio de investigación muscular y función mitocondrial
SPAIN
Cataluña
ESPLUGUES DE LLOBREGAT
Phenylketonuria: from chilhood to adults through brain functional conectomics, cardiovascular changes, metabolomic and intestinal microbiota characteristics
Hospital Sant Joan de Déu Barcelona
Unidad de Enfermedades Metabólicas Congénitas
SPAIN
Madrid
CANTOBLANCO
Propionic acidemia: impact on the epigenome and the proteome in relation to the cardiac and neurological phenotype
CBMSO - Centro de Biología Molecular Severo Ochoa
Grupo de Estudios fisiopatológicos y desarrollo de terapias en modelos animales y celulares de enfermedades neurometabólicas
SWITZERLAND
Suisse Alémanique
BERN
Impact of Phenylalanine on Cognitive, Cerebral and Neurometabolic Parameters in Adult Patients with Phenylketonuria - a Randomized, Placebo-Controlled, Crossover, Non-inferiority Trial
Inselspital Universitätsspital
Universitätsklinik für Diabetologie, Endokrinologie, Ernährungsmedizin und Metabolismus (UDEM)
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Clinical and molecular studies of malformations
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Investigations of methylmalonic acidemia and related disorders
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
A new view of pah allostery - correlation with disease-associated alleles
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Creating a paper-based phenylalanine test for personalized therapy monitoring by patients with phenylketonuria
Institution: Information not provided - US
AUSTRIA
TIROL
INNSBRUCK
Lipid peroxidation as driver of cardiolipin remodeling
Medizinische Universität Innsbruck
Zentrum Medizinische Genetik Innsbruck
GERMANY
Niedersachsen
GÖTTINGEN
AAV-mediated gene therapy for molybdenum cofactor deficiency type B
Institut für Humangenetik der Universität Göttingen
Institut für Humangenetik
ITALY
PUGLIA
BARI
Oxidative lipidomics in Barth Syndrome
Azienda Ospedaliero-Universitaria Consorziale Policlinico di Bari
Dipartimento di Scienze mediche di base, neuroscienze e organi di senso
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Zebrafish models of human disease
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Novel gene therapy strategies for canavan disease
Institution: Information not provided - US
Multicentric Research projects
- IRB Barcelona - Instituto de Investigación Biomédica
- Transportadores de aminoácidos y enfermedad
- Oxford University Begbroke Science Park
- Zyoxel Limited
- Dietmar-Hopp-Stoffwechselzentrum
- Klinik Kinderheilkunde I - Dietmar-Hopp-Stoffwechselzentrum
- Newcastle upon Tyne Hospitals NHS Trust
- John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine
- Stichting Katholieke Universiteit
SPAIN
Cataluña
BARCELONA
EUGINDAT: European genomics initiative on disorders of plasma membrane amino acid transporters
UNITED KINGDOM
Oxfordshire
BEGBROKE
TissueGEN: THE PRODUCTION OF A 3D HUMAN TISSUE DISEASE PLATFORM TO ENABLE REGENERATIVE MEDICINE THERAPY DEVELOPMENT
GERMANY
Baden-Württemberg
HEIDELBERG
iNTD Network - International Working Group on Neurotransmitter Related Disorders
UNITED KINGDOM
Tyne & Wear
NEWCASTLE UPON TYNE
SYBIL: Systems biology for the functional validation of genetic determinants of skeletal diseases
NETHERLANDS
Gelderland
NIJMEGEN