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Approved Studies


Update 15th October 2017:
This study approval list is not being maintained.
Please contact musketeers@nihr.ac.uk or the specific study for information on approvals.

Primary Trial ID Number 15351
IRAS ID 127489
NIPSIGEN - Clinical Translation of NIPD for single gene disorders
Dr Stephanie Allen, Birmingham
Approved: Birmingham,  Nottingham, Sheffield, Guy's, Liverpool, Leeds, North West London, St George's London, Manchester, Bristol, Cambridge, Exeter, Leicester, Southampton, Cardiff, Newcastle, Oxford, Aberdeen, Dundee, Edinburgh, Glasgow, Belfast
Declined: GOSH 

Primary Trial ID Number 14496
IRAS ID 114546
Investigating Hereditary Cancer Predisposition - IHCAP
Dr Marc Tischkowitz, Cambridge
Approved: Cambridge, Manchester, Leeds, Exeter, Newcastle, Bristol, Leicester, Southampton, Sheffield, Nottingham, Guy's, GOSH, Oxford, North West London, Liverpool, St George's, Cardiff, Glasgow, Aberdeen, Dundee, Edinburgh
Declined: Birmingham 

Primary Trial ID Number 15956
IRAS ID 116993
Exploring mutational signatures in humans - INSIGNIA
Exploring the biological processes underlying mutational signatures identified in patients with inherited disorders and in patients exposed to mutagens
Dr Serena Nik-Zainal, Cambridge
Approved: Cambridge, Newcastle, Exeter, Bristol, Cardiff, GOSH, Guy's, Nottingham, Leicester, Leeds, Birmingham, Oxford, Southampton, Sheffield, North West London, Liverpool, Manchester, St George's, Belfast, Aberdeen, Dundee, Edinburgh, Glasgow, Royal Marsden

Primary Trial ID Number 16623
IRAS ID 132544

STAARS UK - Study of Adults and Adolescents with Russell Silver Syndrome in the UK
Dr Oluwakemi Lokulo-sodipe, Southampton 
Approved: Southampton, Liverpool, Birmingham, Newcastle, Cambridge, Guy's, Leeds, North West London, Nottingham, Oxford, Sheffield, GOSH, Aberdeen, Exeter, Edinburgh, Glasgow, Dundee, St George's, Belfast, Bristol, Manchester, Cardiff, Leicester 

Primary Trial ID Number 10846
IRAS 67197
Children with Language, Reading and Communication Problems
Professor Dorothy Bishop, Oxford
Approval prior to Musketeers' Memorandum: Oxford, Birmingham, Bristol, Leeds, Leicester, Liverpool, GOSH, North West London, Guy's, Nottingham, Sheffield, Southampton, Aberdeen, Dundee, Edinburgh, Glasgow
Approved: Exeter, Manchester, Cardiff, Belfast 

Primary Trial ID Number 13539
IRAS 99005
HARC - Exploring the Genetics of Renal Developmental Disease (NHF1B)
Dr Rhian Clissold, Exeter
Approval prior to Musketeers' Memorandum:  Exeter, Birmingham Children's Hospital, GOSH, Guy's
Approved: Cardiff, Bristol, Dundee, Newcastle, Oxford, Aberdeen, Edinburgh, Leicester, Leeds, Nottingham, Sheffield, Glasgow, St George's, Birmingham, Cambridge, Belfast, Liverpool, Manchester, Southampton

Primary Trial ID Number 8028
IRAS 29215
COPE - Diagnostic and therapeutic insights into breast cancer from morphological and molecular profiling of breast tumours in patients with germline p53 mutations (Li Fraumeni Syndrome)
Professor Diana Eccles, Southampton   
Approval prior to Musketeers' Memorandum: Southampton, Birmingham, Exeter, Leeds, GOSH, Guy's, Manchester, Newcastle, Oxford, Sheffield, Aberdeen, Royal Marsden
Approved: Cambridge, Cardiff, Leicester, Bristol, Nottingham, St George's, Dundee, Edinburgh, Glasgow

Primary Trial ID Number 16332
IRAS 132996
GENPROS - Analysing outcomes after prostate cancer diagnosis and treatment in carriers of rare germline mutations in cancer predisposition genes
Prof Ros Eeles, London South
Approved: Royal Marsden, Glasgow, Aberdeen, Exeter, Leeds, Edinburgh, Oxford, Birmingham, Dundee, GOSH, Bristol, Guy's, St George's, Cardiff, Belfast, Nottingham, Southampton, Liverpool, Sheffield, Cambridge, North West London, Manchester, Newcastle
Declined: Leicester 

Primary Trial ID Number 12941
IRAS 97854
Structural Brain Abnormalities and Learning Disability
Dr Usha Kini, Oxford
Approved: Oxford, Leeds, Manchester, Newcastle, Bristol, Exeter, Liverpool, GOSH, Guy's, Nottingham, Southampton, Cambridge, Sheffield, St George's, North West London
Declined: Birmingham, Cardiff, Leicester

Primary Trial ID Number 13109
IRAS 103870
ISO (Investigation of Segmental Overgrowth)
Genetic and Physiological Investigation of Patients with Rare Segmental Overgrowth Disorders, Lipoblastomas or Hemihypertrophy
Dr Robert Semple, Cambridge
Approved: Cambridge, Leeds, Birmingham, Guy's, Cardiff, Newcastle, Bristol, Liverpool, North West London, Nottingham, Southampton, Manchester, Aberdeen, Oxford, Edinburgh, Glasgow, Belfast, St George's
Approved (PICS): Leicester, Exeter, Sheffield 

Primary Trial ID Number 7418
IRAS 50895
Molecular Pathology of Human Genetic Disease
Professor Eamonn Maher, Cambridge/Birmingham
Circulated for approval outside CSP as this is a pre-CSP Study 24.07.14
Approval prior to Musketeers' Memorandum: Birmingham, Exeter, Leeds, Leicester, Liverpool, GOSH, Guy's, Manchester, Oxford, Sheffield, Bristol
Approved: Newcastle, Cambridge, North West London, Glasgow, Aberdeen, Edinburgh, Cardiff, Nottingham, St George's, Belfast, Dundee, Southampton

Primary Trial ID Number 11010
IRAS 83633
Phenotypes in Intellectual Disability
Neuroanatomical, Cognitive and Behavioural Phenotypes in Intellectual Disability of Genetic Origin
Dr Lucy Raymond, Cambridge 
Approved: Cambridge, Newcastle, Cardiff, Manchester, Birmingham, GOSH, Leeds, Liverpool, Nottingham, Oxford, Exeter, Southampton, Bristol, Leicester, St George's, Sheffield, Guy's, North West London, Glasgow

Primary Trial ID Number 17635
IRAS 153245
IMAGINE - Intellectual disability and mental health: assessing genomic impact on neurodevelopment
Dr Lucy Raymond, Cambridge
Approved: Cambridge, Manchester, Newcastle, Sheffield, Exeter, Oxford, Nottingham, Liverpool, Leeds, Leicester, Guy's, Southampton, Bristol, Cardiff, St George's, Birmingham, North West London, GOSH, Glasgow

Primary Trial ID Number 7424
IRAS 6086
Genetic basis of craniofacial malformations
Professor Andrew Wilkie, Oxford
Approved: Exeter, Southampton, Newcastle, Cardiff, Leicester, Glasgow, Guy's, Nottingham, Aberdeen, Edinburgh, Cambridge, Sheffield, Belfast, Leeds, St George's, North West London

Primary Trial ID Number 17578
IRAS 137435
Services for Juvenile Huntington's Disease
Assessment and satisfaction of services for Juvenile Huntington's Disease and modelling alternative methods of service organisation
Dr Oliver Quarrell, Sheffield
Approved: Bristol, Oxford, Southampton, Cardiff, Birmingham, Exeter, Leeds, Leicester, Liverpool, North West London, Manchester, Nottingham, Cambridge, St George's, Newcastle, Edinburgh, Dundee, Guy's, Glasgow

Primary Trial ID Number 4917
IRAS 58620
Imprinting Disorders in Humans (IDFOW)
Professor Karen Temple, Southampton
Approval prior to Musketeers' Memorandum: North West London, Bristol, Leeds
Approved: Belfast, Glasgow, Manchester, Cardiff, Sheffield, Aberdeen, Edinburgh, Leicester, St George's
Declined: Birmingham 

Primary Trial ID Number 17219
IRAS 142640
Genetics of Multiple Cancers Study (GeMCaS)
Dr Clare Turnbull, RMH London South
Approval prior to Musketeers' Memorandum: Dundee
Approved: Cardiff, Leicester, Bristol, Exeter, Leeds, Liverpool, North West London, Newcastle, Oxford, Sheffield, Edinburgh, Glasgow, Southampton, St George's, Nottingham, Belfast, Guy's, Aberdeen
Declined: Birmingham, Cambridge 

Primary Trial ID Number 17383
IRAS 148669

Genotype-phenotype correlation in ARCI
Genotype-phenotype correlation in autosomal recessive congenital ichthyosis
Professor John McGrath, Guy's Hospital
Approved: Newcastle, Birmingham, Bristol, Leeds, Nottingham, Sheffield, Cambridge, Leicester, Exeter, Cardiff, Southampton, Manchester, Liverpool, Oxford, Glasgow
Declined: St George's 

Primary Trial ID Number 20155
IRAS 181438
A study of movement disorders in adults with 22q11 deletion syndrome
Dr Alisdair McNeil, Sheffield
Approved: Edinburgh, Newcastle, Birmingham, Cambridge, Manchester, Leeds, Liverpool, North West London, Oxford, Exeter, St George's, Bristol, Southampton, Leicester, Cardiff, Nottingham, Glasgow, Aberdeen, GOSH, Belfast, Guy's

Primary Trial ID Number 14774
IRAS 87399
Genetic mechanisms in polyposis of the bowel
Professor Julian Sampson, Cardiff
Approval prior to Musketeers' Memorandum: North West London, Leicester 
Approved: Aberdeen, Edinburgh, Glasgow, Leeds, Bristol, Sheffield, Manchester, Newcastle, St George's, Birmingham, Cambridge, Oxford, Exeter, Dundee, Nottingham, Liverpool, Southampton
Declined: Belfast, Leicester 

Primary Trial ID Number 4477
A study of eye muscle disorder genes
Dr Nicholas Gutowski, Exeter
Approved: Glasgow, Edinburgh, Aberdeen, Manchester, Bristol, Sheffield, Birmingham, Leeds, Oxford, Cardiff, Liverpool, Cambridge, Newcastle, Southampton, Belfast, Nottingham, St George's, Guy's

Primary Trial ID Number 19058
IRAS 49685
Splicing and Disease
Dr Diana Baralle, Southampton
Approved: Exeter, Cardiff, Manchester, Cambridge, Birmingham, Glasgow, Leeds, Liverpool, North West London, Oxford, Sheffield, St George's, Newcastle, Bristol, Leicester, Belfast, Edinburgh, Aberdeen, Guy's

Primary Trial ID Number 20404
IRAS 178308
Study of a rare cutaneous lichenoid, alopecic and scarring variants
Professor John McGrath, Guy's Hospital, London
Not circulated to: Liverpool, GOSH, Nottingham, Aberdeen, Sheffield
Approved: Cardiff, Manchester, Bristol, Leeds, Oxford, Glasgow, Newcastle, Exeter, Cambridge, Dundee, Edinburgh, Leicester, North West London, Southampton, St George's

Primary Trial ID Number 19401
IRAS 10073
Genes and the Kidney in Tuberous Sclerosis
Professor Julian Sampson, Cardiff
Approved: Birmingham, Sheffield, Bristol, Exeter, Manchester, Belfast, Cambridge, Southampton, Liverpool, Edinburgh, Glasgow, Nottingham, Aberdeen, Leeds, Dundee, Leicester, St George's

Primary Trial ID Number 18452 - CLOSED TO RECRUITMENT
Re-contact in mainstreaming genetics V1
Mainstreaming Genomics: Re-contacting patients in a dynamic healthcare environment (ESRC)
Professor Susan Kelly, Exeter 
Approval prior to Musketeers' Memorandum:   Southampton, Cardiff
Approved: Glasgow, Edinburgh, Dundee, Nottingham, Sheffield, Cambridge, Birmingham, Belfast, Liverpool, Bristol, Oxford, North West London, St George's, Leicester, Guy's

Primary Trial ID Number 19361
IRAS 161520
Phenotyping of rare genetic overgrowth disorders
Dr Trevor Cole, Birmingham
Approved:  Exeter, Nottingham, Sheffield, Cambridge, Newcastle, Liverpool, Cardiff, Southampton, Bristol, North West London, Oxford, Leicester, Manchester, St George's

Primary Trial ID Number 5756
Lymres - Analysis of genes and their functions in patients with primary lymphoedema
Dr Sahar Mansour, London
Approved: North West London, Cardiff, Exeter, Glasgow, Aberdeen, Dundee, Edinburgh, Leeds, Cambridge, Leicester, Birmingham, Nottingham, Sheffield, Oxford, Southampton, Belfast, Bristol, Liverpool, Guy's, Newcastle

Primary Trial ID Number 6570
IRAS 61001 
FACT - Factors associated with Childhood Tumours Study
Professor Nazneen Rahman, RMH London South
Approval prior to Musketeers' Memorandum: Bristol, Nottingham, Leicester, Glasgow, GOSH
Approved: St George's, Belfast, North West London, Liverpool, Cambridge, Guy's

Primary Trial ID Number 5539
IRAS 73478
Genetic disorders of growth, development and the brain
Professor Andrew Jackson, Edinburgh
Approval prior to Musketeers' Memorandum: Leeds, North West London, Newcastle, Bristol
Approved: Exeter, Manchester, Sheffield, Southampton, Leicester, Cardiff, Belfast, Birmingham, Liverpool, Oxford, Cambridge, Nottingham, Glasgow

Primary Trial ID Number 10556
IRAS 62971
Genetic disorders of Human Neurological and Immune Function
Professor Yanick Crow, Manchester
Approval prior to Musketeers' Memorandum: Cardiff, Leeds
Approval requested at: Newcastle, Liverpool
Approved: Exeter, Cambridge, Sheffield, Southampton, Leicester, Oxford, Birmingham, North West London, Guy's, St George's
Declined: Bristol 

Primary Trial ID Number 20749
IRAS 186802

Genetics of Perrault Syndrome (hearing loss and ovarian insufficiency)
Professor William Newman, Manchester
Approval requested at: Bristol, GOSH, St George's, Aberdeen, Dundee
Approved: Cardiff, Glasgow, Cambridge, Newcastle, Edinburgh, Leeds, Leicester, North West London, Nottingham, Oxford, Birmingham, Southampton, Exeter, Liverpool, North West London, Newcastle, Sheffield, Belfast, Guy's

Primary Trial ID Number 10486
IRAS 7025
Understanding the conditions of the RAS-MAPK pathway: version 1
Dr Emma Burkitt Wright, Manchester
Approval requested at: Liverpool, GOSH, Guy's, St George's, Nottingham
Approved: Cardiff, Cambridge, Exeter, North West London, Oxford, Newcastle, Southampton, Leicester, Sheffield, Leeds, Bristol, Birmingham

Early Development in Neurofibromatosis type 1 (EDEN) study
CI: Professor Jonathan Green (Dr Shruti Garg) Manchester    (HRA process)
REC: 16/NW/0324

IRAS: 200297
R&D Contact: Elizabeth Mainwairing
HRA: Approved 
Approved: Glasgow, Cardiff, Birmingham, Southampton, Leicester, Exeter, Newcastle, Bristol, Cambridge, Leeds, North West London, Oxford, Aberdeen, Dundee, Edinburgh, Guy's, Sheffield

The SCOTTY Study - whole genome sequencing of young colon cancer patients and their parents
CI: Professor Malcolm Dunlop, Edinburgh  (HRA process)
Study Contact: Donna Markie
R&D Contact: Gavin Robertson
REC: 16/SS/0082
IRAS: 200475 CPMS: 31934
R&D: 2016/0191
HRA: Approved
WALES (Health & Care Research Permissions): Approved
Some sites approved through HRA & Scotland
Approved: Dundee, Manchester, Cardiff, Sheffield, GOSH, Nottingham, Southampton, Aberdeen, Leeds, Newcastle, Guy's, Cambridge, Glasgow, Exeter, North West London, Birmingham, Bristol
Declined: Leicester 

IFNopathy Study: A prospective natural history study to enhance understanding of the phenotypes associated with the type I interferonopathies.
CI: Dr Tracy Briggs, Manchester (HRA process)
IRAS: 207018
CPMS ID: 33429
R&D Contact: Elizabeth Mainwairing
Approved: Exeter, Birmingham, Leicester, Glasgow

Biomarkers of Lynch Syndrome (BOLT)
CI: Dr Emma Crosby, Dr Neil Ryan, Manchester    (HRA process)
REC : 16/NW/0164 IRAS: 195219
R&D Contact: Elizabeth Mainwairing
HRA: Approved
Approved: Exeter, Glasgow 

Spliceosomal Disorders
CI: Dr Sofia Douzgou, Manchester (HRA process)
IRAS:  206615
CPMS ID: 32125
R&D Contact: Elizabeth Mainwairing
Approved: Exeter, Leicester, Glasgow 

 List of studies to be approved