A Study to Evaluate Pluripotent Stem Cell Models for Spinal Muscular Atrophy (SMA) Patients

Overview

About this study

The purpose of this study is to perform RNA sequencing on induced pluripotent stem cells (iPSC). By comparing the gene expression of motor neurons derived from iPSC cells of phenotypically discordant Spinal Muscular Atrophy (SMA) sibling pairs and individual cases of SMA, we hope to identify potential protective gene modifiers of SMA. Identifying protective gene modifiers will increase our understanding of the molecular pathogenesis of SMA.

Participation eligibility

Participant eligibility includes age, gender, type and stage of disease, and previous treatments or health concerns. Guidelines differ from study to study, and identify who can or cannot participate. There is no guarantee that every individual who qualifies and wants to participate in a trial will be enrolled. Contact the study team to discuss study eligibility and potential participation.

Inclusion Criteria:

Patients aged 0-100 years with clinically diagnosed spinal muscular atrophy (SMA).
Subjects aged > 18 years who are biologically related to an individual clinically diagnosed with SMA.

Exclusion Criteria:

Subjects who are not clinically diagnosed with SMA and are not biologically related to an individual diagnosed with SMA.
Unaffected children < 18 years of age are ineligible for this study.
Patients with an allergy to subcutaneous lidocaine or bupivacaine (if undergoing a dermal punch biopsy).
Subjects unable to consent to the study (or have both parents/guardian/witness sign on their behalf).

Participating Mayo Clinic locations

Study statuses change often. Please contact the study team for the most up-to-date information regarding possible participation.

Mayo Clinic Location	Status	Contact
Rochester, Minn. Mayo Clinic principal investigator Nathan Staff, M.D., Ph.D.	Open for enrollment	Contact information: Lindsey Kirkeby R.N. (507)293-2884 Kirkeby.Lindsey@mayo.edu
La Crosse, Wis. Mayo Clinic principal investigator Daniel Anderson, D.O.	Open for enrollment	Contact information: Carolyn Flock (608)392-9462 Flock.Carolyn@mayo.edu
Jacksonville, Fla. Mayo Clinic principal investigator Wilfried Rossoll, Ph.D.	Contact us for the latest status	Contact information: Lindsey Kirkeby R.N. (507) 293-2884 Kirkeby.Lindsey@mayo.edu

Mayo Clinic Location

Status

Contact

Rochester, Minn.

Mayo Clinic principal investigator

Nathan Staff, M.D., Ph.D.

Open for enrollment

Contact information:

Lindsey Kirkeby R.N.

(507)293-2884

Kirkeby.Lindsey@mayo.edu

La Crosse, Wis.

Mayo Clinic principal investigator

Daniel Anderson, D.O.

Open for enrollment

Contact information:

Carolyn Flock

(608)392-9462

Flock.Carolyn@mayo.edu

Jacksonville, Fla.

Mayo Clinic principal investigator

Wilfried Rossoll, Ph.D.

Contact us for the latest status

Contact information:

Lindsey Kirkeby R.N.

(507) 293-2884

Kirkeby.Lindsey@mayo.edu

More information

Publications

Publications are currently not available

Clinical Trials