Cell-Based Approaches For Modeling and Treating Ataxia-Telangiectasia

Stopped early · Not applicable

Conditions studied: Ataxia-Telangiectasia (A-T)

In brief

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 stem cells (iPSC) are a type of cells that can be made in the laboratory from cells in your body, such as blood cells or skin cells (fibroblasts). These stem cells can then be used for research purposes. For example, stem cells can be used to investigate how the mutation in ATM causes the actual symptoms of Ataxia-Telangiectasia. In addition, the stem cells can be used to screen for drugs that could be helpful to treat the disease or to develop new laboratory techniques to correct the mutation that causes Ataxia-Telangiectasia. where the mutation that causes the disease is corrected by the investigators. The stem cells generated in this study will not be used directly for patient therapy and therefore this research does not have a direct benefit to you. However, it will help advance our understanding of the disease and develop future therapies. Patients who enroll in this study will get all of the standard therapy they would get for their tumor whether or not they participate in this study. There is no extra or different therapy given. The study involves a one-time procedure (either blood collection or skin biopsy).

Key facts

Study ID

NCT02246491

Run by

Johns Hopkins University

People needed

6

Starts

2015-02-03

Expected to finish

2018-07-05

Last updated by the study team

2019-03-19

Who can join

Age: 3 and older, up to 100. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• 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.

You may not qualify if…

• Patients under 2 years of age No subjects will be excluded on the basis of age, sex, race, or socio-economic status.

Where it is running

• SKCCC at Johns Hopkins — Baltimore, Maryland, United States

Full record on ClinicalTrials.gov

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