The aim of the participating patient registries in the GRDR program is to accelerate research across all rare diseases and to develop new diagnostics and treatments for patient benefit.
Bard-Beidl syndrome is a rare genetic disease that affects many parts of the body and often leads to impaired vision, chronic kidney disease and endocrine disorders. CRIBBS’ goal is to promote research and improve the lives of individuals affected by the complex disease.
CoRDS is a centralized international patient registry for all rare diseases. The goal of the CoRDS registry is to connect as many patients and researchers as possible to help advance treatments and cures for rare diseases.
Prader-Willi syndrome (PWS) is a rare disorder present at birth that results in a number of physical, mental and behavioral problems. The purpose of the registry is to develop a database of individuals with PWS to better understand the disease’s characteristics, speed the completion of clinical trials, and determine areas of needed research and treatments.
Pachyonychia congenita is an ultra-rare genetic disorder that causes skin cells to be extremely fragile. Patients in the IPCRR are helping physicians and scientists discover more about the disease and develop treatments.
The International Plastic Bronchitis Registry contains clinical and demographic data on patients with serve airway disease, also called plastic bronchitis. This research has led to new understanding of related disorders, specifically near-fatal asthma.
The Intracranial Hypertension Research Foundation supports medical research on chronic intracranial hypertension, a neurological disorder in which cerebrospinal fluid pressure within the skull is too high. The registry is designed to identify causes and potential treatments of the disorder.
Malignant hyperthermia is a rare, life-threatening condition that is usually triggered by exposure to certain drugs used for general anesthesia. The registry's goal is to acquire, analyze and disseminate case-specific clinical and laboratory information related to malignant hyperthermia risk.
Wolfram syndrome is a rare genetic disorder characterized by juvenile-onset diabetes, withering of the optic nerve, and the progressive loss of neuron structure and function. Patients in the registry help physicians and scientists explore the disease’s characteristics and develop treatments.