Cell-Based Approaches For Modeling and Treating Ataxia-Telangiectasia
Ataxia-Telangiectasia (A-T)
About this trial
This is an interventional basic science trial for Ataxia-Telangiectasia (A-T)
Eligibility Criteria
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:
- 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 Criteria:
Patients under 2 years of age No subjects will be excluded on the basis of age, sex, race, or socio-economic status.
Sites / Locations
- SKCCC at Johns Hopkins
Arms of the Study
Arm 1
Arm 2
Other
Other
iPSCs without gene correction
iPSCs with gene correction
This is not a clinical trial and there is no immediate benefit to the participants. At this time, iPSCs and their derived products are not suitable for administration to patients. However, they are useful for basic and preclinical studies of the disease, such as mechanistic studies of ATM function or screening for small molecules with therapeutic value. As regenerative medicine continues to advance, iPSCs and their products may ultimately be used for clinical studies aimed at replacing damaged tissues in A-T patients.
This is not a clinical trial and there is no immediate benefit to the participants. At this time, iPSCs and their derived products are not suitable for administration to patients. However, they are useful for basic and preclinical studies of the disease, such as mechanistic studies of ATM function or screening for small molecules with therapeutic value. As regenerative medicine continues to advance, iPSCs and their products may ultimately be used for clinical studies aimed at replacing damaged tissues in A-T patients.