The rare disease projects that are currently running are shown in the table below, however they are not all yet open for recruitment. Information and eligibility criteria for the open projects is available to view via the links below. The clinical report form (CRF) will be provided to recruiting teams at set-up.
We expect this list to grow, as up to 100 rare diseases projects begin recruiting. If you have any questions about these projects, or wish to recruit to a project, please email: rarediseases@bioresource.nihr.ac.uk.
A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
| Disease | Lead Institute |
| Achondroplasia and Hypochondroplasia (ACH) – not yet open | Newcastle |
| Acute Coronary Syndromes: SCAD, CAE and FMD (ACS) – not yet open | Leicester |
| Alpha-1 Antitrypsin Deficiency (AAT) – CRF available | Birmingham |
| Arthrogryposis (AMC) – CRF available | Birmingham |
| Atypical Haemolytic Uraemic Syndrome (AHU) – no longer recruiting | Newcastle |
| Autoimmune Hepatitis (AIH) – CRF available | Newcastle |
| Autosomal Dominant Parkinson’s Disease (ADP) | University College London Hospitals |
| Autosomal Dominant Tubulointerstitial Kidney Disease (ATK) – no longer recruiting | Cambridge |
| Birdshot Chorioretinopathy (BCR) – CRF available | Moorfields |
| Bleeding, Thrombotic and Platelet Disorders (BPD) – CRF available | Cambridge |
| Cerebral Small Vessel Disease (CSV) – CRF available | Cambridge |
| CHARGE Syndrome (CHG) – CRF available | Birmingham |
| Ciliopathies – Bardet-Biedl and Alstrom Syndrome (CIL) | University College London Hospitals |
| Congenital Hyperinsulinism (CHI) – CRF available | Manchester |
| Cutaneous Lymphoma (CTL) – CRF available | Birmingham |
| Dystonia (DYS) | University College London Hospitals |
| Ehlers-Danlos Syndrome (EDS) – no longer recruiting | |
| Familial Interstitial Pneumonia (FIP) – CRF available | Manchester |
| Giant Cell Arteritis (GCA) – CRF available | Leeds |
| Haemoglobinopathies (HBP) – CRF available | GSTT/UCLH |
| Haemophilia Centres Project (HCP) – recruits through BPD | |
| Histiocytic Disorders (HCD) – not open | Newcastle |
| Hypertrophic Cardiomyopathy (HCM) – no longer recruiting | |
| IgA Nephropathy (IAN) – CRF available | Leicester |
| Imprinting Disorders Cohort (IMP) – CRFs available | Southampton |
| Inheritable Factor XI Deficiency – recruits through BPD | University College London Hospitals |
| Inherited Optic Neuropathies (ION) – CRF available | Cambridge / Moorfields |
| Inherited Retinal Dystrophy (IRD) – CRF available | Moorfields |
| Intrahepatic Cholestasis of Pregnancy (ICP) – not yet open | KCL / Guy’s and St Thomas’ Hospitals |
| Juvenile Systemic Sclerosis (JSC) – CRF available | Leeds |
| Malignant Mesothelioma (MM) – no longer recruiting | |
| Membranoproliferative Glomerulonephritis and C3G (PMG) – CRF available | University College London Hospitals |
| Multiple Endocrine Neoplasia Type 1 and Pancreatic Neuroendocrine Tumours (ECT) – CRF available |
Oxford |
| Multiple Primary Malignant Tumours (MMT) – CRF available | Cambridge |
| Multiple System Atrophy (MSA) | University College London Hospitals |
| Narcolepsy – Type 1 and Type 2 (NRC) – CRF coming soon | Guy’s and St Thomas’ Hospitals |
| Next Generation Children (NGC) – specific sites recruiting | Cambridge |
| Neuropathic Pain Disorder (NPD) – no longer recruiting | |
| Neurofibromatosis Type 1 (NF1) – CRF available | Manchester |
| Neurofibromatosis Type 2 (NF2) – CRF available | Manchester |
| Ocular Maldevelopment: Microphthalmia, Anophthalmia and Ocular Coloboma (MAC) – CRF available | Moorfields |
| Overgrowth Disorders – Phenotyping (POD) – CRF available | Birmingham |
| Paediatric Neurodevelopmental Disorders (PND) – CRF not yet available | Cambridge |
| Pregnancy in Chronic Kidney Disease (CKD) – not yet open | GSTT/KCL |
| Primary Biliary Cirrhosis (PBC) – not yet open | Cambridge |
| Primary Immunodeficiency (PID) – CRF available | Cambridge |
| Primary Sclerosing Cholangitis (PSC) – CRF available | Birmingham |
| Primary Sjogrens Syndrome (PSJ) – CRF available | Newcastle |
| Pulmonary Arterial Hypertension (PAH) – no longer recruiting | Cambridge / Papworth |
| Rare Inherited Neurological Disorders (IND) – CRF available | Cambridge |
| Renal Systemic Lupus Erythematosus (RLE) – recruitment will take place via the IMID BioResource, not the Rare Diseases study | GSTT/KCL |
| Refractoriness First-line Treatment for Blood Cell Autoimmunity (BCA) – CRF available | Imperial / Leeds |
| SAPHO Syndrome (Synovitis, Acne, Pustulosis, Hyperostosis, Osteitis) (SAP) – CRF available | Cambridge |
| Septo-optic Dysplasia (SOD) – not yet open | University College London Hospitals |
| Severe Hyperemesis Gravidarum (SHG) – not yet open | Guy’s and St Thomas’ Hospitals |
| Specialist Pathology: Evaluating Exomes in Diagnostics (SPEED) – no longer recruiting | Cambridge |
| Stem Cell and Myeloid Disorders (SMD) – CRF not yet available | Oxford |
| Steroid Resistant Nephrotic Syndrome (SNS) – not yet open | Guy’s and St Thomas’ Hospitals |
| Systemic Autoinflammatory Disorders – AOSD and uSAID (SAD) – CRF available | Leeds |
| Systemic Sclerosis (SSC) – CRF available | Leeds |
| Turner’s Syndrome (TUS) – CRF available | Manchester |
| Type 2 Diabetes in Children and young adults (PDC) | Birmingham |
| Wolfram Syndrome (WOL) | Birmingham |
Find out more
If you would like to find out further information about the NIHR BioResource, please click the link below, to find the person to direct your enquiries to.