Status:
TERMINATED
Cell-Based Approaches For Modeling and Treating Ataxia-Telangiectasia
Lead Sponsor:
Johns Hopkins University
Conditions:
Ataxia-Telangiectasia (A-T)
Eligibility:
All Genders
3-100 years
Phase:
NA
Brief Summary
This research is being done to better understand the causes of the disease Ataxia-Telangiectasia and, in the longer-term, develop new therapies for the disease using stem cells. Induced pluripotent s...
Detailed Description
Ataxia-Telangiectasia (A-T) is a devastating genetic syndrome of neurodegeneration, immunodeficiency and cancer predisposition caused by mutations in the locus encoding ATM (Ataxia-Telangiectasia Muta...
Eligibility Criteria
Inclusion
- Patients that meet the classic diagnosis of A-T and for whom the underlying mutation(s) is known. The diagnosis of A-T has been made by the clinician using the following criteria:
- Characteristic neurological abnormalities, including but not limited to oculomotor apraxia, bulbar dysfunction, postural instability, and ataxia.
- Presence of telangiectasia on the conjunctivae and/or skin.
- Laboratory abnormalities including but not limited to elevated serum alpha-feto- protein, level, absence of ATM on western blot, increased x-ray induced chromosomal breakage in comparison to a control population, mutations in both alleles of the ATM gene. Parents of the patients above, who are haploinsufficient and whose mutation is known.
Exclusion
- Patients under 2 years of age No subjects will be excluded on the basis of age, sex, race, or socio-economic status.
Key Trial Info
Start Date :
February 3 2015
Trial Type :
INTERVENTIONAL
Allocation :
ACTUAL
End Date :
July 5 2018
Estimated Enrollment :
6 Patients enrolled
Trial Details
Trial ID
NCT02246491
Start Date
February 3 2015
End Date
July 5 2018
Last Update
March 19 2019
Active Locations (1)
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1
SKCCC at Johns Hopkins
Baltimore, Maryland, United States, 21287