Skip to main content
NIH Intramural Research Program, Our Research Changes Lives

Navigation controls

  • Search
  • Menu

Social follow links

  • Podcast
  • Instagram
  • Twitter
  • YouTube
  • LinkedIn

Main navigation

  • About Us
    • What Is the IRP?
    • History
    • Honors
      • Nobel Prize
      • Lasker Award
      • Breakthrough Prize
      • Shaw Prize
      • Presidential Early Career Award for Scientists and Engineers (PECASE)
      • Presidential Medal of Freedom
      • National Medal of Science
      • Searle Scholars
      • The National Academy of Sciences
      • The National Academy of Medicine
      • The National Academy of Engineering
      • The American Academy of Arts and Sciences
      • National Medal of Technology & Innovation
      • Samuel J. Heyman Service to America Medals
      • Crafoord Prize
      • Fellows of the Royal Society
      • Canada Gairdner Awards
    • Organization & Leadership
    • Our Programs
      • NCI
      • NEI
      • NHGRI
      • NHLBI
      • NIA
      • NIAAA
      • NIAID
      • NIAMS
      • NIBIB
      • NICHD
      • NIDA
      • NIDCD
      • NIDCR
      • NIDDK
      • NIEHS
      • NIMH
      • NIMHD
      • NINDS
      • NINR
      • NLM
      • CC
      • NCATS
      • NCCIH
    • Research Campus Locations
    • Contact Information
  • Our Research
    • Scientific Focus Areas
      • Biomedical Engineering & Biophysics
      • Cancer Biology
      • Cell Biology
      • Chemical Biology
      • Chromosome Biology
      • Clinical Research
      • Computational Biology
      • Developmental Biology
      • Epidemiology
      • Genetics & Genomics
      • Health Disparities
      • Immunology
      • Microbiology & Infectious Diseases
      • Molecular Biology & Biochemistry
      • Molecular Pharmacology
      • Neuroscience
      • RNA Biology
      • Social & Behavioral Sciences
      • Stem Cell Biology
      • Structural Biology
      • Systems Biology
      • Virology
    • Principal Investigators
      • View by Investigator Name
      • View by Scientific Focus Area
    • Accomplishments
      • View All Accomplishments by Date
      • View All Health Topics
      • The Body
      • Health & Wellness
      • Conditions & Diseases
      • Procedures
    • Accelerating Science
      • Investing in Cutting-Edge Animal Models
      • Creating Cell-Based Therapies
      • Advancing Computational and Structural Biology
      • Combating Drug Resistance
      • Developing Novel Imaging Techniques
      • Charting the Pathways of Inflammation
      • Zooming in on the Microbiome
      • Uncovering New Opportunities for Natural Products
      • Stimulating Neuroscience Research
      • Pursuing Precision Medicine
      • Unlocking the Potential of RNA Biology and Therapeutics
      • Producing Novel Vaccines
    • Research in Action
      • View All Stories
      • Battling Blood-Sucking Bugs
      • Unexpected Leads to Curb Addiction
      • Shaping Therapies for Sickle Cell Disease
      • The Mind’s Map Maker
    • Trans-IRP Research Resources
      • Supercomputing
    • IRP Review Process
    • Commercializing Inventions
  • NIH Clinical Center
    • Clinical Center Facilities
    • Clinical Faculty
    • Advancing Translational Science
    • Clinical Trials
      • Get Involved with Clinical Research
      • Physician Resources
  • News & Events
    • In the News
    • I am Intramural Blog
    • Speaking of Science Podcast
    • SciBites Video Shorts
    • The NIH Catalyst Newsletter
    • Events
  • Careers
    • Faculty-Level Scientific Careers
    • Trans-NIH Scientific Recruitments
      • Stadtman Tenure-Track Investigators
        • Science, the Stadtman Way
      • Lasker Clinical Research Scholars
      • Independent Research Scholar
    • Scientific & Clinical Careers
    • Administrative Careers
  • Research Training
    • Program Information
    • Training Opportunities
    • NIH Work/Life Resources
I am Intramural Blog

A Golden Injection for Christmas

By IRP Staff Blogger

Monday, January 11, 2016

Reblogged from The Children's Inn at NIH: Family Stories. Originally published January 7, 2016.

This past holiday season, 14-year old Gillian Copejans was the second person in the world to get an incredible gift: leading-edge gene-therapy treatment at the NIH Clinical Center.

According to his mom, Annemie Pasmans, that single moment when he received “the golden injection,” transformed everything for her son and his family. “Now, Gillian gets to have a life,” she said.

Wheelchair-bound—but brimming with energy, nonstop smiles, and radiant red curls—Gillian received the experimental therapy, a one-time “dose” of 35 trillion cells, each carrying a properly spelled, replacement version of the gigaxonin gene, into Gillian’s spinal cord. The treatment is designed to counter his giant axonal neuropathy, or GAN.

GAN is an extremely rare neurodegenerative condition caused by one or more of 52 different misspellings in the gigaxonin gene. GAN limits Gillian’s ability to walk, use his hands, speak, and also restricts his vision and ability to think.

Gillian is Annemie’s fourth child so she is quite familiar with how kids should develop. Although she knew something was wrong with her child by the time he was 2 years old, Gillian’s condition wasn’t diagnosed until he was 7, after many visits to doctors failed to identify the very rare condition.

Gillian’s new gene-therapy treatment at NIH stemmed from research begun in 2008 by Dr. Steven Gray of the University of North Carolina, Chapel Hill. Dr. Gray has been searching for a cure for GAN, working in cells and mice to pave the way for future treatments for people.

Recently, Dr. Gray connected with pediatric neurologist Dr. Carsten Bönnemann and his colleagues at the NIH Clinical Center, who took over the project in order to test the new treatment in children like Gillian. If the next several months go well, Dr. Bönnemann is hopeful that the approach will open doors for delivering a range of properly functioning genes via the spinal cord to people with neurodegenerative conditions such as Lou Gehrig’s disease, spinal muscular atrophy, or others.

According to Dr. Bönnemann, the new gene will start producing replacement gigaxonin protein within 3 weeks of the injection. Although the protein can’t be traced because it disappears within nerve cells, he and other researchers will be monitoring Gillian’s symptoms closely over time to look for improvement in his ability to move, speak, and see.

Gillian will also require intensive rehabilitation therapy that will start as soon as he goes back to his hometown of Antwerpen, Belgium. He is looking forward to plenty of French fries, his favorite food, and maybe some chicken wings, which he can order in restaurants in English now thanks to lessons provided at The Inn.

Like every winter holiday season at The Inn, nearly every day featured a special treat or event, including countless appearances from Santa. On December 16, the cheerful holiday hero arrived with much fanfare via motorcycle, thanks to the Montgomery County Police Department.

Gillian says the best part of this year’s holiday season at The Inn was a trip to the North Pole, a “fantasy flight” that transports Inn children on a 30-minute airplane ride from a local airport, along with Santa’s helpers.

Dr. Bönnemann praised Gillian’s tenacity and cheerfulness, saying he is a true champ, agreeing without protest to undergo the many required treatment-related tests and procedures. “His spirit is just so great,” he says.

Gillian doesn’t see himself as any kind of a hero. Although, with a brand-new set of genes flowing throughout his nervous system, he does admit to feeling “maybe just a little bit special.”

Without a doubt, Gillian’s new gene “gift” superseded any offering Santa could provide, says Annemie. “This has been our best Christmas ever.”


Category: IRP Life
Tags: Children's Inn, gene therapy, gigaxonin, spinal cord, giant axonal neuropathy, rehabilitation, clinical trials

Related Blog Posts

  • IRP Clinical Trials Provide Irreplaceable Hope
  • Need for Speed
  • Faith, Hope, and Determination Help Teenager Fight a Rare Cancer
  • Meet Children's Inn Resident Connor O’Brien
  • An Inspiration for Others – Eli’s Story

This page was last updated on Wednesday, July 5, 2023

Blog menu

  • Contributing Authors
    • Anindita Ray
    • Brandon Levy
    • Devon Valera
    • Melissa Glim
  • Categories
    • IRP Discoveries
    • Profiles
    • Events
    • NIH History
    • IRP Life

Blog links

  • Subscribe to RSS feed

Get IRP Updates

Subscribe

  • Email
  • Print
  • Share Twitter Facebook LinkedIn

Main navigation

  • About Us
    • What Is the IRP?
    • History
    • Honors
    • Organization & Leadership
    • Our Programs
    • Research Campus Locations
    • Contact Information
  • Our Research
    • Scientific Focus Areas
    • Principal Investigators
    • Accomplishments
    • Accelerating Science
    • Research in Action
    • Trans-IRP Research Resources
    • IRP Review Process
    • Commercializing Inventions
  • NIH Clinical Center
    • Clinical Center Facilities
    • Clinical Faculty
    • Advancing Translational Science
    • Clinical Trials
  • News & Events
    • In the News
    • I am Intramural Blog
    • Speaking of Science Podcast
    • SciBites Video Shorts
    • The NIH Catalyst Newsletter
    • Events
  • Careers
    • Faculty-Level Scientific Careers
    • Trans-NIH Scientific Recruitments
    • Scientific & Clinical Careers
    • Administrative Careers
  • Research Training
    • Program Information
    • Training Opportunities
    • NIH Work/Life Resources
  • Department of Health and Human Services
  • National Institutes of Health
  • USA.gov

Footer

  • Home
  • Contact Us
  • IRP Brand Materials
  • HHS Vulnerability Disclosure
  • Web Policies & Notices
  • Site Map
  • Search