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Treating patients with epidermolysis bullosa. Jemima Mellerio Great Ormond Street Hospital and St John’s Institute of Dermatology London, UK. Treating patients with EB. EB and EB care in England and Wales What are the problems and what can we do about them?

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treating patients with epidermolysis bullosa

Treating patients with epidermolysis bullosa

Jemima Mellerio

Great Ormond Street Hospital and

St John’s Institute of Dermatology

London, UK

treating patients with eb
Treating patients with EB
  • EB and EB care in England and Wales
  • What are the problems and what can we do about them?
  • Clinical trials in EB - what is there?
  • Why so few?
  • What could we do?
  • What is the way forward?
slide3

Epidermolysis bullosa (EB)

  • Group of inherited disorders
  • Skin +/- mucosal fragility
  • Variable severity
  • Variable non-cutaneous features
  • Overall incidence of approx 1 per 20,000 births
  • Estimated 5,000 with EB in UK
slide4

Epidermolysis bullosa (EB)

  • Result from mutations in genes encoding proteins at the dermal-epidermal junction
  • Latest classification: 13 different genes, many more clinical subtypes

Fine J-D et al. J Am Acad Dermatol 2008; 58(6): 931-50

slide5

EB care in England and Wales

  • April 2002 NSCAG funding (National Specialist Commissioning Advisory Group) (now NCG)
  • Specialist centres to develop expertise in rare diseases
  • Funded by Department of Health
  • Reciprocal arrangements with Scotland and N Ireland
slide6

Ninewells &

University of Dundee

Great Ormond

Street Hospital

Birmingham Children’s

Hospital

St Thomas’ Hospital

Robin Eady

National Diagnostic

EB Laboratory

Heartlands Hospital

EB care in England and Wales

slide7

Anaesthetist

Oncologist

Ophthalmologist

Cardiologist

Clinical geneticist

Orthopaedic surgeon

Dentist

OT/hand therapist

Dermatologist

Paediatrician

Dietician

Physiotherapist

Endocrinologist

Plastic surgeon

ENT surgeon

Play therapist

Gastroenterologist

Podiatrist

General surgeon

Psychologist

Haematologist

Social worker

Interventional radiologist

Specialist nurse

Symptom control team

Microbiologist

Obstetrician

Urologist

Multidisciplinary EB care

slide9

Infection

EB: what are the problems and what can we do about them?

slide17

Pain

GU problems

Itch

Delayed puberty

Constipation

Psychosocial

Cardiomyopathy

GO reflux

slide18

So many problems…

So many interventions…

So little evidence…

slide19

Clinical trials in EB - what is there?

  • Two double-blind placebo-controlled RCTs for oral tetracyclines in EB simplex
  • Small numbers (n=12 and n=21)
  • No evidence of benefit
slide20

Clinical trials in EB - what is there?

  • Two RCTs for topical interventions in EBS
  • 20% aluminium chloride hexahydrate (n=23)
  • 5% bufexamac cream (n=8)
  • No evidence for benefit from either
slide21

Clinical trials in EB - what is there?

  • One RCT with phenytoin vs placebo in recessive dystrophic EB
  • N=36
  • No benefit from phenytoin
slide22

Clinical trials in EB - what is there?

  • Anecdotal reports and retrospective analyses
  • Small non-controlled trials with small numbers

e.g. acceptability and efficacy of Urgotul dressings

e.g. parenteral iron and erythropoietin for anaemia in EB

  • Tolerability of oral isotretinoin in patients with recessive dystrophic EB
slide23

Clinical trials in EB - what is there?

  • Pilot study of low dose trimethoprim in children with junctional and dystrophic EB
slide24

Clinical trials in EB - what is there?

  • Pilot study of low dose trimethoprim in children with junctional and dystrophic EB
  • Topical thymosin beta4 for wound healing in junctional and dystrophic EB
slide25

Clinical trials in EB - what is there?

  • Pilot study of low dose trimethoprim in children with junctional and dystrophic EB
  • Topical thymosin beta4 for wound healing in junctional and dystrophic EB
  • Efficacy of 2 different devices for improving microstomia in severe generalised recessive dystrophic EB
slide26

Clinical trials in EB - what is there?

  • Pilot study of low dose trimethoprim in children with junctional and dystrophic EB
  • Topical thymosin beta4 for wound healing in junctional and dystrophic EB
  • Efficacy of 2 different devices for improving microstomia in severe generalised recessive dystrophic EB
slide27

Clinical trials in EB - what is there?

  • Topical opioids for wound pain in EB
  • Low dose amitriptyline for chronic pain in children with EB
slide28

Clinical trials in EB - what is there?

  • Ex vivo gene therapy for non-Herlitz junctional and recessive dystrophic EB
slide29

Clinical trials - why so few?

  • EB is a rare disease especially if break down into subtypes…hard to get decent numbers
  • Validity of comparing different subtypes of EB?
  • Other variables e.g. temperature, infection, anaemia, age
slide30

Clinical trials - why so few?

  • Hard to get objective measures e.g. blister counts, wound healing
slide31

Clinical trials - why so few?

  • What would ‘normal’ healing rate be?
slide32

Clinical trials - why so few?

  • Could evaluate ‘before’ and ‘after’
slide33

Clinical trials - why so few?

  • More global measures e.g. pain diaries, QoL measures may not be sufficiently sensitive to detect real differences
  • Birmingham EB Severity Score
  • Sydney QoL EB index
slide34

Clinical trials - why so few?

  • May mean yet another intervention or treatment for patient and carers
  • May be higher drop outs due to other factors e.g. intercurrent illness
  • Extra visits for study may be unfeasible
clinical trials what to do
Clinical trials - what to do?
  • Anaemia in severe forms of EB
  • Parenteral iron +/- erythropoietin
slide36

Clinical trials - what to do?

  • Osteoporosis in severe forms of EB
  • Effects of bisphosphonates on EB bone turnover
  • Potential benefits from low amplitude vibrating platforms
slide37

Clinical trials - what to do?

  • Cancer chemoprevention in recessive dystrophic EB
  • Trial of oral retinoids: tolerability and efficacy
slide39

Clinical trials - what to do?

  • Cancer management
  • Role of imiquimod for treatment of early in situ tumours or palliation
slide40

Clinical trials - what to do?

  • Cancer management
  • Role of Mohs micrographic surgery or sentinnel lymph node biopsy?
slide41

Clinical trials - what to do?

  • Cancer management
  • Role of newer chemotherapeutic agents e.g. EGFR inhibitors and tyrosine kinase inhibitors
slide42

Clinical trials - what to do?

  • Gene, cell and protein therapy

EB gene

Skin

biopsy

slide43

Baseline

Allogeneic fibroblasts

Clinical trials - what to do?

  • Gene, cell and protein therapy
slide44

What is the way forward?

  • UK in privileged position
  • Large clinical centres for adults and children providing comprehensive multidisciplinary care
  • Most patients with more severe forms seen regularly at one of these centres
  • Links to excellent diagnostic services
  • Invaluable role of DebRA UK
slide45

What is the way forward?

  • UK multi-centre trials much needed
  • International collaboration is the way forward for more power and larger numbers
  • Already good communication and links between EB centres in EU and beyond
  • Need to overcome administrative and financial hurdles to enable clinical trials to be undertaken