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Home > "P" Clinical Trials Conditions > Phenotype and Etiology of Pallister-Hall Syndrome  Phenotype and Etiology of Pallister-Hall Syndrome
Phenotype and Etiology of Pallister-Hall Syndrome
For Condition: Epilepsy,Hamartoma,Multiple Abnormalies,Syndactyly
Status: Recruiting
Sponsor(s): National Human Genome Research Institute (NHGRI) ,
Synopsis: 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.
Details: 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 and mutant proteins.
Eligibility:
Study Type: Observational, Natural History
Minimum Age/Maximum Age: /
Genders: Both
Protocol Entry Criteria: INCLUSION CRITERIA: Subjects with clinical manifestations of a polydactyly syndrome including; PHS, oral-facial-digital syndrome, McKusick-Kaufman syndrome, Grieg cephalopolysyndactyly syndrome, Bardet-Biedl syndrome, acrocallosal syndrome, autosomal dominant polydactyly, isolated hypothalamic hamartoma. Blood will also be requested on unaffected relatives that could be informative for linkage studies or for determining cosegregation of mutations within families. Subjects of either gender and all ethnic and racial groups will be accepted. Prenatal specimens (amniocentesis or CVS) will be accepted if they are previously acquired for clinically indicated reasons. Cord blood or placenta specimens may be accepted if they (or a part of them) are not needed for clinical purposes. Specimens from patients collected at outside institutions may be accepted into the study if they were collected under an IRB-approved protocol at an MPA institution or if the IRB waives review of the study and allows usage of the NIH consent. Coded specimens (specimens linked to identifiers but without personal identifiers attached to the sample) may be acquired from other NIH investigators, analyzed, and returned as research results to that investigator. EXCLUSION CRITERIA: If the patient or physician can not provide adequate medical record documentation to justify a suspected diagnosis, the family will be excluded. If the records do not support the diagnosis the family would be excluded.
Total Enrollment: 750
Location and Contact Information:
National Human Genome Research Institute (NHGRI) *Recruiting*
Bethesda, Maryland, 20892
United States
Recruiting Patient and Public Liaison Office 1-800-411-1222
Additional Information:
Study ID Numbers: 940193; 94-HG-0193
Study Start Date: August 18, 1994
Record last reviewed: July 29, 2003
Additional information available at: clinicaltrials.gov
Clinicaltrials.gov Reference link: NCT00001404
Other Multiple Abnormalies Studies:
1. Phenotype and Etiology of Pallister-Hall Syndrome
Related Studies:
Other Multiple Abnormalies Clinical Trials
Other Maryland Clinical Trials
Other Bethesda Clinical Trials
Phenotype and Etiology of Pallister-Hall Syndrome
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