Rare disease projects

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.


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
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.