Phenotype and Etiology of Pallister-Hall Syndrome
Completed
Conditions studied: Malformations, Multiple Abnormalies, Polydactyly
In brief
We aim to delineate the range of severity, natural history, molecular etiology, and pathophysiology of Pallister-Hall syndrome (PHS), Greig cephalopolysyndactyly syndrome (GCPS), McKusick-Kaufman syndrome (MKS), Bardet-Biedl syndrome (BBS), Oro-facial digital syndromes (OFDs), and other overlapping phenotypes. These disorders comprise a syndrome community of overlapping manifestations and we hypothesize that this is a reflection of a common mechanistic pathway. This hypothesis be addressed by a combined clinical-molecular approach where we bring up to 50-100 patients with each disorder to the NIH clinical center for a comprehensive clinical evaluation with follow-up at a frequency appropriate to the disorder. Specimens will be collected and evaluated in the laboratory by linkage analysis, physical mapping, candidate gene characterization, mutation screening, and cell biologic studies of normal mutant proteins.
Key facts
- Study ID
- NCT00001404
- Run by
- National Human Genome Research Institute (NHGRI)
- People needed
- 1170
- Starts
- 1994-08-18
- Expected to finish
- 2016-01-07
- Last updated by the study team
- 2019-12-16
Who can join
Age: any. Sex: any. Healthy volunteers: not accepted.
You may not qualify if…
- Patients with typical GCPS or PHS who have demonstrated GLI3 mutations may be excluded from this study. Patients with phenotypes and disorders with a high risk/benefit ratio such as late-onset, neurodegenerative, psychiatric, and cancer-predisposition disorders will be excluded from participation. Similarly, patients who are medically fragile or unable to tolerate travel to the NIH CC will not routinely be eligible for participation. Probands who are adults and decisionally-impaired are ineligible if they do not have a legal guardian who has authority to sign a consent form on their behalf.
Where it is running
- Cedars Sinai Medical Center — Los Angeles, California, United States
- National Institutes of Health Clinical Center, 9000 Rockville Pike — Bethesda, Maryland, United States
- Greenwood Genetics Center — Greenwood, South Carolina, United States
- Ankara University School of Medicine — Ankara, Turkey (Türkiye)
Full record on ClinicalTrials.gov
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