Clinical Trial Details
Braintumor Website

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NCT00068224 : Clinical and Molecular Investigations Into Ciliopathies
AgesMin: 6 Months Max: 80 Years

This protocol will enroll children and adults who carry a clinical diagnosis of ARPKD,
CHF, JSRD, BBS, OFD or AS and who has either PKD/NP spectrum of changes in the kidneys or
CHF/Caroli s syndrome of the liver. This might rarely include adults who are unable to
give informed consent.

Among patients who have received a kidney or liver allograft, those with stable graft
function and without severe transplant-related complications are eligible for enrollment.
Patients and their parents/legal guardians must be willing to come to the NIH Clinical
Center for admission annually.


Infants under 6 months of age.

Medically fragile patients who require frequent hospitalizations due to complications of
end-stage renal disease (uncontrolled hypertension, severe electrolyte imbalances) or
hepatic disease (current variceal bleeding, overt encephalopathy, intractable recurrent
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