Clinical Trial Details
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[Information provided by: ClinicalTrials.gov, which provides patients, family members, and members of the public easy and free access to information on clinical studies for a wide range of diseases and conditions.]

NCT02246491 : Cell-Based Approaches For Modeling and Treating Ataxia-Telangiectasia
PhaseN/A
AgesMin: 3 Years Max: 100 Years
Eligibility
Inclusion Criteria:

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
known.

Exclusion Criteria:

Patients under 2 years of age No subjects will be excluded on the basis of age, sex, race,
or socio-economic status.
LinksPermanent Link to THIS page: https://virtualtrials.com/nct/display1trial.cfm?nct=NCT02246491      |      Link to official Clinicaltrials.gov listing
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