NHS England and the Scottish Medicines Consortium agree to reimburse Ravicti® (glycerol phenylbutyrate) for the management of Urea Cycle Disorders (UCDs) Ravicti is the first liquid formulation of phenylbutyrate, which is virtually tasteless and odourless.  This treatment, a more palatable alternative to sodium phenylbutyrate will be provided via specialised metabolic commissioning centres across […]

Metabolic Support UK, as the umbrella patient organisation for Inherited Metabolic Disorders, is disappointed that NICE does not recommend re-imbursement of the treatment burosumab for X-linked Hypophosphatemia (XLH) in children and young people following the recent Highly Specialised Technologies evaluation. Burosumab is the first and only treatment to target the […]

Following the recent evaluation meeting, the National Institute for Health and Care Excellence (NICE) has issued draft guidelines rejecting NHS funding for the drug burosumab for children and young people with X-linked Hypophosphataemia (XLH), after concluding that the most likely cost-effectiveness estimates are much higher than would normally be considered […]

We are pleased to confirm the itinerary for the Climb Annual Conference on 14th October 2017 at the Macdonald Burlington Hotel in Birmingham. It’s going to be an informative day with plenty of opportunities to meet and get to know other families, hear from a range of speakers and help […]

After hearing the latest news on this case, Charlie and his parents are in the thoughts of everyone at Climb. Our thoughts also go out to all those involved in the care of Charlie. Climb exists to raise awareness of Inherited Metabolic Diseases including Mitochondrial Disease. It is important that […]

M&Co in Nantwich held a fantastic fashion show in aid of Climb on Wednesday 5th July, which was attended by over 50 people including the Mayor of Crewe, Cllr Diane Yates. Models, including staff, customers and their families and friends from the local community (and our very own founder, Lesley […]

July 2017 – After a 2 year process Climb is pleased that NICE has published draft guidance recommending the drug Strensiq (also known asfotase alfa) for people with paediatric-onset hypophosphatasia.   The funding agreement between NHS England and Alexion Pharma is based on a 5-year Managed Access Agreement which means that […]

This event is now fully booked X-Linked Hypophosphataemia (XLH) Patient and Family Meeting Climb in collaboration with Central Manchester Healthcare Trust Radisson Blu Airport Hotel (Manchester) Saturday 1st July 2017 9am to 4pm A unique and exciting event, packed with speakers discussing the latest innovations in XLH, along with opportunities […]

About the 100,000 Genomes Project The project aims to sequence 100,000 whole genomes from about 70,000 people.  Participants are NHS patients with certain types of cancer and patients with rare diseases plus their families. With their consent their genomes will be sequenced and linked to details about an individual’s medical […]

The Department of Health and NHS England recently made a commitment to develop an implementation plan for the UK Strategy for Rare Diseases in England, which is a really positive outcome for those affected by Inherited Metabolic Disorders. With the General Election taking place on 8th June, we want to make sure […]

An Update on Mitochondrial Donation – Dr Lindsey Butterworth March 2017 Everything we do requires energy. Whether we are walking the dog, running to catch a bus or sitting reading this article, the cells in our body constantly need energy to work and stay alive. Nearly all our cells contain […]

Climb has appealed the NICE Review Committee decision not to approve the treatment of severely affected juvenile and adult patients with the treatment asfotase alpha.   Whilst Climb is extremely pleased that the treatment will be available for all perinatal and infantile cases of the disorder under the Managed Access […]

NICE has published draft guidance recommending the drug asfotase alfa for children with perinatal- and infantile-onset hypophosphatasia (HPP) – a very rare inherited condition affecting between one and seven babies each year in England. The full draft guidance can be accessed here.  In summary: Asfotase alfa is recommended as an option […]

A New PK Deficiency Resource is available here for families and professionals: www.KnowPKDeficiency.com

MCADD families belong to what is now, by far, our largest group of families. Since the addition of MCADD to the screening programme in 2010, the number of MCADD families has increased and over time so has the need for a more varied spectrum of support. In order to ensure […]

To celebrate Metabolic Disease Awareness Week, supporters of Climb took over social media, with over 360 #metabolicselfies shared! It is estimated that each person has between 200 and 300 followers on Facebook.  So, with 360 selfies shared, and an average of 250 followers each, around 90,000 people will have learnt a […]

RareConnect is a safe, easy to use platform where rare disease patients, families and patient organisations can develop online communities and conversations across continents and languages. RareConnect partners with the world’s leading rare disease patient groups to enable families and patients to join discussions, share stories and knowledge, ask questions, […]

Climb would like to say a massive thank you to all those families and professionals who joined us on the 4th June for our first Urea Cycle Disorder event.   We had over 50 people join us for a really interesting day which saw the launch of the RareConnect network, […]

Last month saw the 1st birthday of BreathDX a UK company driving the design and development a system to measure ammonia levels in IEM patients from their breath rather than blood. Thanks to the help from the CLIMB community BreathDX now have over £1m from UK funding bodies to develop […]