Status:
COMPLETED
Glycosylation in Patients With Galactosaemia
Lead Sponsor:
Children's University Hospital, Ireland
Collaborating Sponsors:
Health Research Board, Ireland
Medical Research Charities Group Ireland
Conditions:
Classical Galactosaemia
Eligibility:
All Genders
5-40 years
Phase:
NA
Brief Summary
Galactosaemia is an inherited condition caused by a lack of an enzyme (catalyst) which normally breaks down galactose (the sugar found in milk products). This affects 1:19,000 births annually in Irela...
Detailed Description
Classical Galactosaemia is an inherited disorder of galactose metabolism caused by profound deficiency of galactose-1-phosphate uridyltransferase (GALT: EC 2.7.712). This results in a systemic accumul...
Eligibility Criteria
Inclusion
- Classical galactosaemia
- Q188R Genotype
- On lactose-free diet
- No complications, condition well controlled
- Male/femal adults and children aged between 5-12 yrs.
- Informed consent /assent
- Patient attend the Galactosaemia Clinic, NCIMD Dublin
Exclusion
- Complications, such as cataracts
- Galactosaemia varaint, no Q188R-Genotype
- Poor compliance
- Intercurrent illness
- Individual may not complete follow up
- Children below 5 years of age
- Unable to provide informed consent
- Patient not under the care of Galactosaemia Clinic, NCIMD Dublin
Key Trial Info
Start Date :
July 1 2012
Trial Type :
INTERVENTIONAL
Allocation :
ACTUAL
End Date :
August 1 2014
Estimated Enrollment :
26 Patients enrolled
Trial Details
Trial ID
NCT02218632
Start Date
July 1 2012
End Date
August 1 2014
Last Update
August 18 2014
Active Locations (1)
Enter a location and click search to find clinical trials sorted by distance.
1
National Centre for Inherited Metabolic Disorders, Children's University Hospital, Temple Street
Dublin, Ireland, 1