Addenbrooke's Hospital

Addenbrooke’s is a tertiary referral hospital for East Anglia. The Paediatric Neuromuscular team is a centre of excellence accepting tertiary Neuomuscular referrals within the region. We are part of the North Star Network in UK. The Neuromuscular team has consolidated itself as  regional centre over the last 5 years. There are facilities for Genetics, cardiology, respiratory, Long term ventilation, orthopaedic specialist review and investigations.

Department of Paediatric Neurology

Paediatric Neuromuscular team consists of two Paediatric Neuromuscular consultants, Nurse specialist & Physiotherapists. We have over 350 children with various neuromuscular conditions on our case load.

Dedicated twice monthly MDT clinics with Neuromuscular Physiotherapists, Nurse specialists and care advisors, joint Neuromuscular orthopaedic clinic twice a year, joint transition clinic thrice a year, joint Neuromuscular/Respiratory clinic/LTV being set up, internal peer review of cases, neuropathology meetings thrice yearly, facilities for Muscle MRI and DEXA scans

Organize Annual Eastern Region Paediatric Neuromuscular study days

Experience of running trials

Current trials-

SUMMIT Trial

Translational research Study in DMD

Nusinersen EAP

STRIDE Study – agreement to be a trial centre- due to start

Other relevant projects

Team participation in neurology trials

Dr. Krishnakumar involvement in neurology trials

PI UMSCOM- opsoclonus myoclonus study

PI UK ENCEPH study – Encephalitis study – completed

CO- PI- SANAD- Epilepsy trial

Contact Information

Department Name
Department of Paediatric Neurology
Visit Us

Box 107, Department of Paediatric Neurology, Child Development Centre,

Hills Road, Addenbrooke’s Hospital

Cambridge, CB2 2QQ

Primary Phone Number
044-1223 216662
Primary Email Address
deepa.krishnakumar@addenbrookes.nhs.ukgautam.ambegaonkar@addenbrookes.nhs.uk
Primary Contact Person
National Institute for Health Research (NIHR) Contact:
Heather Phillips, heather.phillips@nihr.ac.uk
 
 
View Clinical Trials At This Site  
 
 

Current Trials:

Study Name Status
Patient Registry Translarna (Ataluren) Recruiting
Summit- Ezutromid (PhaseOut DMD) Trial terminated
 
 

Contact Listing:

Clinical work in neuromuscular disorders

  • 2 Dedicated neuromuscular clinics per month
  • 4 Transitional NM clinics per year
  • 4 NM – Orthopaedic clinics per year
  • Co-lead for the Nusinersen EAP

 

 Research in neuromuscular disorders

  • Was PI for FOR-DMD study in DMD
  • PI for Utrophin up regulation trial (SUMMIT)
  • PI for Translational research trial in DMD
  • Co- PI for STRIDE registry trial for Translarna

 

Dr Gautam Ambegaonkar has been working as a Paediatric Neurologist at Addenbrookes hospital since April 2011 having done his Neurology grid training at GOSH, London and led the neuromuscular service from his appointment until Feb 2018. During this period, Addenbrookes was awarded status as ‘Centre of Clinical Excellence’ by MD UK following a nationwide audit of services. Dr Ambegaonkar also established the Eastern Muscle Group network and was instrumental in setting up the website and Annual NM study days in Cambridge. 

 

Selected Publications:

 

  1. Ambegaonkar JP, Cortes N, Caswell SV, Ambegaonkar GP, Wyon M. Lower extremity hypermobility but not core muscle endurance influences balance in female collegiate dancers. International Journal of Sports Physiotherapy 2016 Apr; 11(2): 220-229
  2. Ambegaonkar G, Manzur AY, Robb SA, Kinali M, Muntoni F. The Multiple phenotypes of arthrogryposis multiples congenital with reference to the neurogenic variant.  Eur J Paediatr Neurol. 2011 Jul;15(4):316-9
  3. Book Reviews :-
  • Neuromuscular disorders (2nd edition) Amato A, Russell J
  • DMD (4th edition) Emery A, Muntoni F et al.

 

01223 216662

Dedicated twice monthly MDT neuromuscular clinic, PI at Addenbrooke’s Hospital for STRIDE NIHR research study on Translarna in DMD, Lead for EAP/Nusinersen IT therapy for children with SMA

Dr. Krishnakumar has been working as Consultant Paediatric Neurologist at Addenbrooke’s Hospital since October 2011. She worked as Locum Consultant at Southampton University hospital between April – September 2011. She completed her Paediatric Neurology Grid training in East of England Deanery 2008 – 2011. Paediatric Neuromuscular training - Great Ormond Street Hospital under Prof. Muntoni and Dr. Adnan Manzur as part of the grid neurology training post.

Specific Neuromuscular related publications

1.Book Review - Oxford textbook of Neuromuscular disorders. David Hilton Jones, Martin R. Turner, editors, Oxford University Press (2014), ISBN 978-0199698073.

Neuromuscular disorder (2016). Deepa Krishnakumar, Department of Paediatric Neurology, Addenbrooke’s Hospital, UK

 

2.Publication - Neuropathologic characterization of contocerebellar hypoplasia type 6 associated with cardiomyopathy and hydrops fetalis and severe multisystem respiratory chain deficiency due to novel

RARS2 mutations, Lax NZ1, Alston CL, Schon K, Park SM, KrishnakumarHe L, Falkous G, Ogilvy-Stuart A, Lees C, King RH, Hargreaves IP, Brown GK, McFarland R, Dean AF, Taylor RW, J Neuropathol Exp Neurol. July 2015

 

3.Oral presentation - Retrospective study of clinical presentation and diagnostic yield of cohort of children with suspected mitochondrial disease. Honnor K, Hadoura A, Hogg S, Parker A, Krishnakumar D. European Society of Paediatric Neurology, May 2015, Vienna.

 

4. Oral Presentation -Prevalence of vitamin D deficiency in 157 boys with Duchenne muscular dystrophy. Munot P, Krishnakumar D, Davies T, Robb S, Muntoni F, Manzur A. RCPCH Spring Meeting Warwick, April 2010.

 

5. Oral Presentation - The clinical presentation of mitochondrial disease in UK children: A prospective population based study. Verity C, Krishnakumar D, Winstone AM, Stellitano L. BPNA Conference, Birmingham, January 2009.

01223 216662
deepa.krishnakumar@addenbrookes.nhs.uk

Fay has 19 years of experience as a Neonatal Acute transport team nurse and has brought a wealth of experience from this previous post.

She joined the Neuromuscular team in November 2017. She is the first point of contact for family queries.

She liaises with all the families, organises the joint clinics, study days and internal meetings within the department. Fay helps the physiotherapists with their assessments in the neuromuscular clinics.

01223 216662

Fay has 19 years of experience as a Neonatal Acute transport team nurse and has brought a wealth of experience from this previous post. She joined the Neuromuscular team in November 2017. She is the first point of contact for family queries. She liaises with all the families, organises the joint clinics, study days and internal meetings within the department. Fay helps the physiotherapists with their assessments in the neuromuscular clinics.

01223 218065
jacquitaylor@nhs.net

Cath qualified from Coventry University in 2004 with a BSc Hons Physiotherapy.  Cath completed my band 5 rotations at Peterborough District Hospital. In 2006, Cath began working as a Band 6 Community Paediatric Physiotherapist in Waltham Forest, before moving to her current post as a Band 7 Community Paediatric Physiotherapist  at Cambridgeshire Community Services NHS Trust in 2009.

Cath developed a special interest in Neuromuscular Disorders throughout her time working in community paediatrics working with this client group. Cath began working in the Addenbrookes Neuromuscular Service from when it was first formed, developing the physiotherapy role and provision within the service over the years. Cath has provided support and training to community therapists within the region, regarding the management of neuromuscular disorders and she has been involved in the physiotherapy role for the SUMMIT clinical trial.

When not in the clinic, Cath works for Cambridgeshire Community Services (CCS NHS Trust) as Senior Community Paediatric Physiotherapist.  This role is primarily a clinical role supporting CYP with complex needs in the community including those with neuromuscular conditions.

01480 418581
catherine.ward5@nhs.net