Status:
TERMINATED
Liver Cell Transplant for Phenylketonuria
Lead Sponsor:
Ira Fox
Conditions:
Phenylketonuria
Eligibility:
All Genders
14-55 years
Phase:
PHASE1
PHASE2
Brief Summary
Human phenylketonuria (PKU) results from phenylalanine hydroxylase (PAH) deficiency, and represents one of the most common and extensively studied single-gene Mendelian disorders in humans. Unfortunat...
Detailed Description
Hepatocytes from more than one donor may be required to provide sufficient numbers of cells for transplantation to correct the disease process. We have previously estimated that the hepatic mass of a ...
Eligibility Criteria
Inclusion
- Previous diagnosis of classical PKU, as determined by a PAH mutation known to cause classical PKU, or a Phe \>20 mg/dL at any time.
- Patients must have poor control on standard therapy (i.e. Kuvan or diet alone) as defined by two consecutive Phe levels of \> 12 mg/dL in the past six months. This is two times the recommended level. If the patient is being treated with Palynziq, they must discontinue treatment for at least two months before participating in this trial.
- Baseline I.Q. ≥70 as assessed by Wechsler Abbreviated Scale of Intelligence (4-subtest IQ)
- Must have a complete evaluation, including dietary records, in a PKU clinic in the past twelve months
- Age between 14 and 55 years
- Stated willingness to comply with all study procedures and availability for the duration of the study
- Sexually active female subjects must agree to use two highly effective forms of contraception for the duration of the study
Exclusion
- I.Q. \<70
- Known biopterin synthesis defects
- Subject has active malignancy
- Subject has known allergy or other contraindication to immune suppression medications (and their alternatives) required post transplant for the prevention of rejection
- Subject has sepsis, pneumonia, other active infection, or other secondary life-threatening organ dysfunction at Screening or Baseline Visits. Subject may be re-screened once infection has cleared.
- Subject is pregnant or breastfeeding
- Subject has positive HIV serostatus
- Liver biopsy shows significant fibrosis, defined by the Ishak Stage 5: bridges with occasional nodules, or higher. Liver biopsy will be performed if, in the clinical judgment of the investigators, subject has clinical signs of liver failure, or increased risk of liver fibrosis.
- Any condition that, in the view of the investigator, places the subject at high risk of poor treatment compliance or not completing the required study follow-up
- Concurrent disease or condition that would interfere with study participation or safety
Key Trial Info
Start Date :
October 12 2011
Trial Type :
INTERVENTIONAL
Allocation :
ACTUAL
End Date :
June 17 2016
Estimated Enrollment :
1 Patients enrolled
Trial Details
Trial ID
NCT01465100
Start Date
October 12 2011
End Date
June 17 2016
Last Update
August 16 2023
Active Locations (1)
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1
UPMC Children's Hospital of Pittsburgh
Pittsburgh, Pennsylvania, United States, 15224