Natural History Study to Determine Drug Metabolism Phenotype and Appropriate Germline Source DNA in Patients Undergoing Allogeneic Hematopoietic Stem Cell Transplant

What this study involves

The registry says this study is recruiting. Individual locations may have different availability.

Study type

Observational

Phase

Not applicable / not listed

Age range

18 years - 120 years

Sex eligible

All sexes

Healthy volunteers

Accepted

Participants

88 Estimated

These are starting points, not an eligibility decision. The research team must review the full requirements.

About the research

Background:

After an allogeneic hematopoietic stem cell transplant (HSCT), the donor genome is found in the recipient s circulation and tissues.

Post-HSCT recipients may receive a medication in which the dosing needs to be adjusted based on genetic variation.

While genes in donor genome may influence dosing and administration of some agents, the majority of established gene-drug pairs in pharmacogenetics are related to expression of metabolic or transporting enzymes located in recipients tissues, often the liver.

Determining which genetic variants influence drug disposition in HSCT recipients is complicated by chimerism in samples that are routinely collected for determining genotype. However, chimerism in tissues is poorly studied in this patient population.

Objectives:

To determine the most reliable host genomic source for pharmacogenetic testing in participants that have received allogeneic HSCT.

Eligibility:

People ages 18 years and older who are enrolled on a clinical trial at the NIH Clinical Center under which they will donate or receive an allogeneic HSCT.

Design:

DNA is collected prior to HSCT and for two years after HSCT.

Blood will be collected and skin fibroblast cell lines will be established prior to HSCT to serve as a reference genome.

Blood, buccal cells, skin, and hair will be monitored for the development of mixed chimerism via detection of short tandem repeats. Liver biopsies will be collected from participants undergoing hepatic surgery.

Pharmacoscan arrays will be conducted to determine which samples are useful for pharmacogenetic testing in participants who receive allogeneic HSCT.

A probe drug cocktail will be administered pre- and post-HSCT to determine if transplantation alters the metabolic phenotype of liver enzymes.

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Who may be able to participate?

The list below is the sponsor’s full registry wording. It can include conditions, prior treatment, test results and other requirements. A match in search does not mean you qualify.

• INCLUSION CRITERIA:
• Age \>=18 years
• Participants must be enrolled on a clinical trial at the NIH Clinical Center (CC) under which they will donate or receive an allogeneic HSCT. The participant and their donor must enroll together to provide a complete set of samples for analysis.
• Ability of subject to understand and the willingness to sign a written informed consent document.

EXCLUSION CRITERIA:

• Donors are not allowed to enroll without a recipient
• Prior allogeneic HSCT
• History of psychiatric disorder which may compromise compliance with protocol requirements.
• Pregnant and lactating individuals

Study population

Any gender, any age greater than or equal to 18 years, who will donate or receive an allogeneic HSCT.

Treatment, groups and participation

The registry may describe treatments and study duration without a complete visit calendar. Ask the study team for the exact schedule, procedures, risks, costs and alternatives. Keep your usual care plan unless your treating clinician tells you otherwise.

Assignment

Not reported

Masking

Not reported

What researchers are measuring

Outcome measures describe what is being studied. They are not proof that a treatment works.

Primary measures

Research locations (1)

The overall study status and a local site’s status can differ. Confirm that location’s availability before traveling.

1 locations

Study team and timeline

Lead sponsor

National Cancer Institute (NCI)

Study start

Mar 4, 2026 Actual

Primary completion

Dec 1, 2030 Estimated

Study completion

Dec 1, 2031 Estimated

First posted

Mar 4, 2025 Actual

Last updated

Nov 9, 2026 Actual

Official study contacts