Below you will find links to patient registries for some genetic conditions, this list is not exhaustive, and there may be relevant registries not listed here.
If you have a genetic condition, being on a patient registry is one way for researchers to contact you about participation in research projects.
The NIRGS is not involved in managing or curating any of these patient registries, and these links are simply for signposting to services published online.
In partnership with Pulse Infoframe, the Myrovlytis Trust and BHD Foundation have launched a BHD Syndrome International Registry (BIRT).
Coffin Siris Syndrome (CSS)
The CSS registry is a clinical database that aims to look at the growth, development, and medical issues of children with CSS. There is no bloodwork or travel needed in order to enroll. For more information, please contact Dr. Samantha Vergano at Children’s Hospital of The King’s Daughters (CHKD).
The Global Registry for COL6-related dystrophies is a database for individuals who have been diagnosed with Bethlem Myopathy, Ullrich Congenital Muscular Dystrophy (UCMD) or an intermediate form of these diseases. The registry team is based at the John Walton Muscular Dystrophy Research Centre at Newcastle University, UK and is part of the TREAT-NMD alliance global network of registries. The registry has been developed in partnership with a number of leading neuromuscular researchers and is funded by the Collagen VI Alliance.
The Friedreich’s Ataxia Global Patient Registry (FAGPR) was launched in November 2019. The FAGPR has been developed by global charities supporting people with FA, including Ataxia UK, to be the international registry for FA research.
The UK Malignant Hyperthermia Registry is a secure database of all known and suspected cases of a condition called Malignant Hyperthermia (MH), which is managed by the MH Investigation Unit based at the University of Leeds.
The registry suggests the following patients should sign up:
- An existing MH patient. We may already have your details but this will help us ensure our records are up to date.
- A patient who is suspected of having MH.
- A relative of a patient with confirmed, or suspected, MH.
The International Niemann-Pick Disease Registry (INPDR) encompasses Acid Sphingomyelinase Deficiency (ASMD, types A & B) and Niemann-Pick disease type C (NPC).
PTEN Hamartoma Tumor Syndrome
In April 2019 Cambridge University secured funding from the PTEN Research Foundation to create the UK’s first PTEN patient registry alongside the University of Edinburgh and University Hospitals Southampton.
Tatton Brown Rahman Syndrome (TBRS)
The TBRS registry aims to collect information which may be used to help provide opportunities for patients and researchers to collaborate in the rare disease community.