Homozygous Familial Hypercholesterolemia - Healing Genes

Homozygous Familial Hypercholesterolemia

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A Gene Therapy Study for Homozygous Familial Hypercholesterolemia (HoFH)

A Phase 1/2a, Single Ascending IV Dose Clinical Trial Investigating Human Low Density Lipoprotein Receptor (LDLR) Gene Therapy in Subjects With Homozygous Familial Hypercholesterolemia (HoFH)

Phase 1/2


Doctors at research centers in FL, KA, OR, PA, and TN are recruiting participants to trial an investigatory gene therapy for Homozygous Familial Hypercholesterolemia (HoFH). The investigational drug is a harmless virus to deliver a healthy copy of the Low Density Lipoprotein (LDL)-receptor gene missing in HoFH patients, to help the patients metabolize LDLs and reduce the chance of early-onset vascular disease.

Participants will first undergo an OPTIONAL 2-day lab assessment of their ability to metabolize LDLs. 2 to 14 days later, participants will admit to the study center hospital and receive the gene therapy infusion once. Frequent lab visits will be required for up to 12 weeks, then a repeat assessment of the optional 2-day lab assessment. Long-term follow up will be every 3 months for a year, then twice yearly tests for 5 years.


  • Be 18 years of age or older
  • Meet genetic and blood lipid screenings and requirements specific to the study and HoFH
  • Not be pregnant and be willing to use contraception from screening visit until 6 months after vector administration
  • Previous organ transplant


  1. Screening before the treatment
  2. An optional 2-day lab assessment involving a 12-hour infusion of a lipid along with repeated blood draws over 48 hours to assess disease severity.
  3. 2 to 14 days later, the patient is admitted to the study center hospital to receive gene therapy and be observed for 24 hours
  4. Blood will be drawn for safety testing daily for 3 days up to 72 hours and then weekly up to 12 weeks.
  5. More comprehensive assessment of safety parameters will occur every 4 weeks up to 12 weeks.
  6. 12 weeks after step (3), those who opted for step (2) will repeat that assessment.
  7. Follow up continues with bi-annual telephone calls and annual lipid tests thereafter up to 260 weeks.


The following study locations are included in the trial:

Excel Medical Clinical Trials, LLC in Boca Raton, FL

Contact: Seth Baum, MD  |   561-756-8206  |   [email protected]


University of Kansas Medical Center in Kansas City, KA

Contact: Patrick Moriarty, MD  |   913-588-4064  |  [email protected]

Contact: Julie-Ann Dutton  |  913-588-4064  |   [email protected]


Oregon Health and Science University in Portland, OR

Contact: Paul B Duell, MD  |   503-494-2007  |  [email protected]

Contact: Jill Rose  |  503-494-2007  |   [email protected]


University of Pennsylvania in Philadelphia, PA

Contact: Marina Cuchel, MD, PhD  |   215-746-2834  |  [email protected]

Contact: Amanda Baer, MB, MBA  |  215-746-3423  |   [email protected]


Vanderbilt University Medical Center Nashville, TN

Contact: Macrae Fort Linton, MD  |   615-936-1450





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