Sunday, January 11, 2015

Hypochondroplasia Research

A number of people have asked me about research on hypochondroplasia (HCH) over the last few days, so I have decided to do a sticky post which I will keep editing over time.

This will be a collection of the MOST RECENT research, for more information please refer to the relevant sections of the blog:

Hypochondroplasia - Prenatal diagnosis.

Hypochondroplasia - X-rays


Hypochondroplasia - Overview
The actual gene review was updated in 2013. This is the most comprehensive document on HCH that you will find.

Hypochondroplasia - Medical Management
This document is not new, but it s the one file every parent needs. Dr Pauli's HCH natural history. If you only read one thing, this should be it.

Hypochondroplasia - Neurology, Epilepsy, Cognitive/intellectual and learning Disabilities
This subject is by far what this blog gets the most hits for so this section is really up to date and constantly updated. But in a nutshell:

This is a small but revolutionary study, connecting the dots for the first time: http://www.ncbi.nlm.nih.gov/pubmed/23165795

Followed by a similar study: http://link.springer.com/article/10.1007/s00247-013-2684-3

Hypochondroplasia - Treatment
I will not get into the discussion whether or not people with HCH should get treatment. Here is the latest research for anyone seeking information.

Basically there are 2 treatment options at present which impact impact height:


  1. Growth hormone treatment - there has been 3 new papers published in the last few years, which is a big change since the big silence since the 80s. If you need more detail other than the abstract e-mail me.
2. Limb Lengthening
Please refer to this section of the blog. The news in this area is the PRECICE internal device. 

Research in progress, e.g. not yet accessible:
  1. Bimoarin achondroplasia study - I am trying to get an update to see how they are doing with Phase 2, if anyone has an update please let me know.
  2. Decoy FGFR3 study - again, trying to figure out if they made any progress as in if they are likely to have human trials.

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