Global FKRP Registry

Launched by NEWCASTLE UNIVERSITY · Jun 27, 2019

Keywords

ClinConnect Summary

The Global FKRP Registry is a study aimed at better understanding certain genetic conditions caused by mutations in the FKRP gene. These conditions include Limb Girdle Muscular Dystrophy type R9 (LGMDR9), which is the most common FKRP-related disorder, along with rarer conditions like Congenital Muscular Dystrophy, Muscle-Eye-Brain Disease, and Walker-Warburg Syndrome. By gathering information through questionnaires from patients around the world, the registry hopes to gain valuable insights into these diseases and identify individuals who may be eligible for future clinical trials.

If you or a family member have a confirmed diagnosis of any FKRP-related condition, you may be eligible to participate in this registry, regardless of your age or gender. There are no specific exclusions, so anyone with a genetic confirmation of these conditions can join. Participants can expect to fill out questionnaires that will help researchers learn more about their experiences with the disease. This is an important step in advancing research and potentially leading to new treatments in the future.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • All patients with a confirmed diagnosis of an FKRP-related condition are eligible for inclusion. Diagnosis will be confirmed via genetic testing results.
• Exclusion Criteria:
• • There is no exclusion criteria for registration with this patient registry.