U-IMD
Research type
Research Study
Full title
Unified European Registry for Inherited Metabolic Disorders
IRAS ID
338632
Contact name
Shamima Rahman
Contact email
Sponsor organisation
University Hospital Heidelberg
Duration of Study in the UK
5 years, 0 months, 0 days
Research summary
Until today there are over 800 different inherited metabolic diseases (IMDs) known and this number is rapidly increasing. Taken alone each IMD is a rare disease with prevalence ranging from 0.1 to 15 in 100,000 new-borns, but taken together 1 in 500 new-borns is affected by an IMD. IMDs have a brought spectrum of clinical presentation and severity. Many patients suffer from severe health problems resulting in high morbidity, reduced life expectancy, and low quality of life.
Most IMDs already present with first symptoms in the new-born period and infancy but also patients with adult onset forms of IMDs exist. These diseases have an enormous negative impact on family life, put high burden and stress on parents, and often negatively influence family planning, professional success, and the socio-economic status of affected families.
Many IMDs are treatable diseases, with clinical manifestation during childhood. Some of the patients can be identified by new-born screening. For many IMDs the frequency can only be roughly estimated and a systematic evaluation of the clinical presentation, the diagnostic and therapeutic procedures and prognosis does not exist so far. Furthermore an evaluation of the different treatment options and their influence on the prognosis of the disease is mostly missing.
The major aim of the U-IMD study is to establish the first international patient register for all IMDs. This register will enable analysis of the frequency, the natural courses of the disease, the diagnostic approaches and the current therapy strategies as well as the quality of life of the affected patients. Besides the extension of the knowledge of these diseases the evaluation of the patient register should contribute to a better treatment and long term diagnosis of the patients.
REC name
London - Westminster Research Ethics Committee
REC reference
25/PR/0124
Date of REC Opinion
18 Feb 2025
REC opinion
Further Information Favourable Opinion