Participant eligibility includes age, gender, type and stage of disease, and previous treatments or health concerns. Guidelines differ from study to study, and identify who can or cannot participate. There is no guarantee that every individual who qualifies and wants to participate in a trial will be enrolled. Contact the study team to discuss study eligibility and potential participation.
Inclusion Criteria:
1. Age: All ages, from birth on
2. One or more of the following:
a. Liver biopsy documenting AGT activity below the normal reference range confirming PH1
b. Liver biopsy documenting GR/HPR activity below the normal reference range confirming PH2
c. Molecular genetic analysis (DNA testing) confirming a mutation known to cause PH1, PH2, or PH3;
Homozygosity or compound heterozygosity of mutations of AGXT, GRHPR, or HOGA1 genes
3. Urinary oxalate excretion of greater than 0.8 mmol/1.73 m2/day (>70 mg/1.73 m2/day) in the
absence of a gastrointestinal disease known to cause hyperoxaluria (enteric hyperoxaluria).
4. If the patient presented with end-stage renal failure, and neither a liver biopsy nor mutational analysis
were obtained, 4a and 4b must be fulfilled along with at least one of the criteria in 4c.
4a. Pre-dialysis plasma oxalate greater than 60 umol/L
AND
4b. Renal biopsy confirming extensive oxalate deposition
4c. Evidence of systemic oxalosis (at least on of the following criteria)
i. retinal oxalate deposits
ii. oxalate deposits in bone marrow, skin, or other tissue (histologically confirmed)
iii. nephrocalcinosis
iv. calcium oxalate nephrolithiasis
Exclusion Criteria:
1. Unwilling or unable to provide consent/assent.
2. Patients unable or unwilling to provide medical record information
Note: Other protocol defined Inclusion/Exclusion Criteria may apply.
Eligibility last updated 07/22/2024. Questions regarding updates should be directed to the study team contact.