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Genetic Disease Gene Identification

NCT00916903 · Status: TERMINATED · Type: OBSERVATIONAL · Enrollment: 176

Last updated 2024-01-02

No results posted yet for this study

Summary

This is a a study to identify inherited disease genes. The study will use molecular techniques to map genetic diseases using techniques such as Affymetrix SNP chips. The powerful combination of the information generated by the Human Genome Project and technical advances such as microarrays enables attempts to identify genes responsible for inherited disorders more possible than ever before. Starting with even modest pedigrees of only a few individuals, or even single individuals, it is possible to identify the gene(s) involved. It is proposed to collect up to 20 ml of peripheral blood and/or buccal cell samples from subjects and relevant family members. Currently the following disorders are approved for investigation.

The current list of disorders:

Aarskog-Scott syndrome, Café-au-Lait spots, Cerebral cavernous malformation, delXp, del2q, del10p, del11q, del12p, del13q, del14q, del16q, del17q, del18q, del Xp21, Choreoathetosis, Congenital Vertical Talus (CVT), Clubfoot, Tarsal coalition and other congenital limb deformities, Cystic Fibrosis (CF)-like disease, Desbuquois syndrome, Droopy Eyelid syndrome (Ptosis), Fanconi-Bickel syndrome (FBS), FENIB (familial encephalopathy with neuroserpin inclusion bodies), FG syndrome, Idiopathic generalised epilepsy (IGE), Renpenning syndrome, transient neonatal diabetes with 6q UPD, translocation (13;14), translocation (3;8), translocation (2;18), Uncharacterized familial dementia and X-linked mental retardation (XLMR).

Conditions

  • Congenital Vertical Talus
  • Familial Encephalopathy With Neuroserpin Inclusion Bodies
  • Idiopathic Generalised Epilepsy
  • Familial Dementia
  • X-linked Mental Retardation

Sponsors & Collaborators

  • State University of New York - Upstate Medical University

    lead OTHER

Principal Investigators

  • Antony E Shrimpton, PhD · State University of New York - Upstate Medical University

Eligibility

Min Age
6 Months
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2005-10-31
Primary Completion
2015-04-30
Completion
2015-07-31

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT00916903 on ClinicalTrials.gov