Clinical Registry Investigating Bardet-Biedl Syndrome
Sponsored by Marshfield Clinic Research Foundation
About this trial
Last updated 3 years ago
Study ID
Status
Type
Placebo
Accepting
Not accepting
Trial Timing
Started 11 years ago
What is this trial about?
What are the Participation Requirements?
Inclusion Criteria: (1) Genetic confirmation of BBS or (2) manifest four primary features
of BBS or (3) manifest three primary features plus two secondary features.
Primary Features: Rod-Cone dystrophy, Polydactyly, Obesity, Learning disabilities,
Hypogonadism in males, Renal anomalies
Secondary Features: Speech disorder/delay, Strabismus/cataracts/astigmatism,
Brachydactyly/syndactyly, Developmental delay, Polyuria/polydipsia, Ataxia/poor
coordination/imbalance, Mild spasticity (especially lower extremities), Left ventricular
hypertrophy/congenital heart disease, Hepatic fibrosis
Exclusion Criteria:
Individuals not meeting established genetic and/or phenotypic criteria