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|NCT02246491 : Cell-Based Approaches For Modeling and Treating Ataxia-Telangiectasia|
|Ages||Min: 3 Years Max: 100 Years|
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:
1. Characteristic neurological abnormalities, including but not limited to oculomotor
apraxia, bulbar dysfunction, postural instability, and ataxia.
2. Presence of telangiectasia on the conjunctivae and/or skin.
3. 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
Patients under 2 years of age No subjects will be excluded on the basis of age, sex, race,
or socio-economic status.
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| Link to official Clinicaltrials.gov listing