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FHSC registry

FHSC Registry

One of the main objectives of FH Studies Collaboration (FHSC) is to raise awareness of the disease and to empower the medical and the global community to achieve a global policy change regarding how FH is detected and managed.

In order to do so, FHSC is establishing the first global FH Registry, an international secure warehouse of FH Data, collected and merged from all the countries (currently 69) included in the network. This registry is the first example of Big Data on FH currently available.

The Registry is coordinated by prof. K. Ray and his team and hosted securely at Imperial College London (UK), in strict adherence with all data safety protocols and regulatory requirements (GDPR).
FHSC relies on a centralised data management system that has been developed and tested throughout the past years, in order to design and customise of an IT platform that would match the requirements of security and facility in handling a huge amount of incoming data.

The participants in the FH Studies Collaboration meet every year to share information and experiences in an annual Steering Committee meeting, held in conjunction with the EAS Congress. See FHSC Events.

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First set up of the registry

The first step was to establish a consortium of major FH registries across Europe, Asia-Pacific, Africa and South America with access to readily available data on individuals with FH. Key opinion leaders in the field agreed to contribute to this database and other international collaborators were approached for collaboration and contribution.

The initial step involved collecting for each region details such as:

  • the number of FH databases in their own country/region, and the approximate number of FH patients included in these registries;
  • how these patients (and their relatives) are being managed;
  • who pays for their treatment (i.e. whether government, private insurer, or self-funded);
  • what is their local/regional/national policy on cascade screening for relatives, and the availability and utilization rates of genetic testing; and
  • who else in their opinion plays an important role in FH management in their region/country (who may then be contacted for potential collaboration).

Merging and harmonisation of data

A detailed data request form was sent to consenting investigators for them to provide pseudonymised data on individuals with FH. After ensuring satisfactory data quality from all registries, the information was merged and harmonised into the central database of the FHSC using bespoke algorithms. This process allows to overcome the diversity and heterogeneity of data coming from multiple cohorts in the world.

Now the registry is established

As per Sept 2018, the FH Registry includes more than 11,000 cases from 25 countries in the world. New countries and investigators are constantly joining, contributing to the Registry with their data and expanding the reach of the network. Exploratory analyses are conducted on the harmonised dataset to study various cross-sectional relationships. Particular emphasis has been placed on exploring differences between:

  • HoFH and HeFH;
  • different genetic subtypes of FH (e.g. broadly whether due to mutations in the LDL receptor, ApoB, PCSK9 or LDLRAP pathways);
  • FH treated by a generalist vs. specialist;
  • FH with pre-existing CVD vs. those without;
  • FH with a family history of premature CVD vs. those without, and
  • FH individuals who attain LDL-C targets on standard treatments vs. those who do not.
  • For analysis of risk (of incident CVD outcomes or death), information collected to date is analysed as if the study were a retrospective cohort study

What we expect to learn

Sharing and pooling the data will help reduce redundant research, avoid duplication of efforts and reduce costs of research; it will allow to assess questions which cannot be addressed in individual studies, provide greater precision than currently possible, facilitate exploratory approaches due to the large sample size and to suggest new hypothesis.
Amongst others, we expect to learn:

  • Usual demographic characteristics (including numbers of siblings/ children both affected and unaffected if known), genotype (if available), treatments, baseline lipids and on- treatment lipids will be obtained from individual studies.
  • Where individuals have data on HoFH with apheresis, information will be sought on frequency and the mean interval LDL-C levels. CVD events (non-fatal MI or stroke) will be obtained from health records or consultations, and case fatalities from national registers.
  • Continuous variables will be compared with parametric and non- parametric tests as appropriate and categorical variables using Chi-squared.
  • Kaplan-Meier estimates of survival will be generated based on achieved LDL-C levels and the genotypes, where known.
  • Key subgroups of interest will be geographical region, gender, ethnicity, age at baseline, age at risk (if possible), age at first treatment initiation, genotype, comorbid medical conditions (diabetes, hypertension, family history of CVD), and main treatment provider (i.e. whether generalist or specialist).
  • To assess whether genotype offers any additional information to risk stratification beyond LDL-C levels in multivariable models of calibration, discrimination and reclassification.

Reasons to participate in the FHSC Registry

These are some of the reasons to be part of the FH Studies Collaboration:

  • inclusion in a global network of FH experts who share experience and information
  • support to collaborators to establish or develop an FH registry in their country
  • participation in the EAS annual congress and the annual FHSC Steering Committee Meeting
  • information and eduational materials on FH
  • support to awareness-raising activities at national level among health care professionals and the wider scientific community

 

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