Research towards Treatment

“Data sharing is essential for expedited translation of research results into knowledge, products, and procedures to improve human health. ”

— National Institute of Health

 We are committed to sharing biospecimens, cell lines, and de-identified data.

ARA has

  • 1 pair of iPSC lines available (1 affected male; unaffected female control line)
  • 1 line of cord blood from an affected male

We also have lymphoblastoid and fibroblast cell lines that are banked and readily available for approved research purposes.

Investigators can contact us to express their interest in biospecimens at so we can further discuss your project. The appropriate committee at ATRX Research Alliance will approve the request based on the review criteria (below). Dependent on the Committee’s decision, there may also be an opportunity for the investigator to revise their initial proposal with feedback.

Review Criteria

When reviewing a proposal, the committee members are asked to consider the extent to which the proposed research meets the following criteria. The committee recognizes that some of these criteria will not apply to all research proposals.

  • Research focuses on issues and concerns that are known or believed to be considered important by people with ATR-X Syndrome or related disorders.
  • Research is scientifically rigorous.
  • If applicable, new data is feasible to collect (for proposals that involve obtaining additional data not already collected via the ATR-X Syndrome Registry).
  • Research has the potential to definitively answer an important question.
  • The willingness of the investigator to publish and share their findings with the broader scientific community
  • For biospecimens only: The ability to successfully complete a material transfer agreement (MTA) with the ATRX Research Alliance Foundation. Additionally, the type of samples requested and the quantity available may determine whether biospecimens are transferred.

Data sharing policies

ATRX Research Alliance aims to provide its resources readily, meaning that we will work with any investigator, at any institution, anywhere in the world who is conducting valid research that is in alignment to our mission of finding treatment and improving quality care for patients with ATR-X Syndrome and related disorders.


Human Rights Protection resources. Please click below:

The Office of Human Research Protections (OHRP) Education and Outreach (link is external)

The Food and Drug Administration (FDA) Clinical Trials and Human Subjects Protection (link is external)

The NLM: Bioethics Information Resources

Office of Research Integrity (link is external)

NIH Office of Extramural Research Human Subjects