Overview

Efficacy of Betaine for Reduction of Urine Oxalate in Patients With Type 1 Primary Hyperoxaluria

Status:
Completed
Trial end date:
2011-09-01
Target enrollment:
0
Participant gender:
All
Summary
The aim of this study is to assess the efficacy and safety of betaine in reducing urine oxalate excretion of Type 1 Primary Hyperoxaluria (PHI) patients. Hypothesis: Betaine will effectively reduce urine oxalate excretion in Primary Hyperoxaluria Type I patients.
Phase:
Phase 2
Accepts Healthy Volunteers?
No
Details
Lead Sponsor:
Mayo Clinic
Collaborators:
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Orphan Europe
Treatments:
Betaine
Criteria
Inclusion Criteria:

1. A definitive diagnosis of Type 1 Primary Hyperoxaluria (PHI) as confirmed by hepatic
angiotensinogen (AGT) deficiency, biochemical criteria (marked hyperoxaluria and
hyperglycolic aciduria) or mutation analysis (having a known PHI mutation)

2. Alanine-glyoxylate aminotransferase (AGXT) genotype known

3. Hyperoxaluria not fully corrected by 3 months of continuous Vitamin B6 (VB6) at doses
of 8 mg/kg/d or more

4. Males or females, 6-70 years of age, inclusive

5. Preserved renal function, as defined by measured glomerular filtration rate (GFR) > 30
ml/min/1.73 m^2

6. Sexually active female patients of childbearing potential must practice adequate
contraception during the treatment period and for 6 months after discontinuation of
therapy. A pregnancy test obtained at entry prior to the initiation of treatment must
be negative. Female patients must not be breast-feeding. Sexually active male patients
must practice acceptable methods of contraception during the treatment period and for
6 months after discontinuation of therapy.

7. Written informed consent for participation in this study.

Exclusion Criteria:

1. Patients who are fully VB6 responsive (i.e., G170R homozygotes).

2. Prior recipients of liver transplantation performed for correction of AGT deficiency.

3. Pregnancy or breastfeeding

4. Unwillingness of patient and/or partner to use contraception during treatment.

5. Malignant disease (other than non-melanoma skin cancer) in the previous two years.

6. Markedly reduced renal function (Stage IV Chronic Kidney Disease or measured or
estimated GFR < 30 ml/min/1.73 m^2)

7. Allergy to betaine or related compounds

8. History of papilledema or increased intracranial pressure.