#1 Clinical Trials Search in Europe

Adeno-Associated Virus Serotype Rh10 Containing The Human Galc Gene

This article discusses an innovative clinical trial investigating a gene therapy approach for infants with Krabbe disease. The study, known as RESKUE, evaluates the safety and potential benefits of using an adeno-associated virus serotype rh10 containing the human GALC gene (AAVrh10-hGALC) in combination with stem cell transplantation. This groundbreaking research aims to improve treatment outcomes for children affected by this rare genetic disorder.

Table of Contents

What is FBX-101?

FBX-101 is an innovative gene therapy being developed to treat infantile Krabbe disease. It is also known by its scientific name, AAVrh10.hGALC (Adeno-associated virus serotype rh10 containing the human galactosylceramidase gene)[1]. This therapy uses a special type of virus, called adeno-associated virus serotype rh10, to deliver a healthy copy of the GALC gene to patients with Krabbe disease.

What is Krabbe Disease?

Krabbe disease, also known as globoid cell leukodystrophy, is a rare genetic disorder that affects the nervous system. It is caused by mutations in the GALC gene, which leads to a deficiency of an important enzyme called galactocerebrosidase. This deficiency results in the destruction of myelin, the protective coating around nerve cells, causing severe neurological problems[1].

How Does FBX-101 Work?

FBX-101 works by introducing a correct copy of the GALC gene into the patient’s cells. The therapy is administered intravenously (through a vein) 21 to 60 days after the patient has received a hematopoietic stem cell transplant (HSCT)[1]. The goal is to provide the body with the ability to produce the missing enzyme, potentially slowing or stopping the progression of the disease.

The RESKUE Clinical Trial

FBX-101 is currently being studied in a clinical trial called RESKUE (A Phase 1/2 Clinical Study of Intravenous Gene Transfer with an AAVrh10 Vector Expressing GALC in Krabbe Subjects Receiving Hematopoietic Stem Cell Transplantation)[1]. This trial aims to:

  1. Evaluate the safety of FBX-101 when given to infants with Krabbe disease after stem cell transplantation
  2. Collect evidence of potential therapeutic benefits

Who is Eligible for the Trial?

The trial is designed for infants with Krabbe disease. Key eligibility criteria include[1]:

  • Diagnosis of infantile Krabbe disease, confirmed by specific tests
  • Age between 1 day and 12 months at the time of screening
  • Eligibility for hematopoietic stem cell transplantation (HSCT)
  • Adequate organ function

It’s important to note that there are also several exclusion criteria, such as prior gene therapy treatment or certain medical conditions that might interfere with the study.

Potential Benefits of FBX-101

While the primary goal of the RESKUE trial is to assess safety, researchers are also looking for signs of potential benefits. These include[1]:

  • Improved probability of achieving independent sitting compared to untreated patients or those receiving only HSCT
  • Improvement in gross motor function, as measured by a specific developmental scale

These potential benefits could significantly improve the quality of life for children with Krabbe disease if the therapy proves successful.

Safety Considerations

As with any new treatment, safety is a primary concern. The RESKUE trial will closely monitor participants for any adverse events related to FBX-101. It’s important to understand that this is a first-in-human study, which means it’s the first time this therapy is being tested in people[1].

Parents and caregivers should discuss all potential risks and benefits with the research team before deciding to participate in the trial.

Aspect Details
Study Name RESKUE (Phase 1/2 Clinical Study)
Investigational Product FBX-101 (AAVrh10-hGALC)
Target Condition Infantile Krabbe Disease
Primary Objective Evaluate safety of FBX-101 when administered intravenously after stem cell transplant
Secondary Objective Collect evidence of potential therapeutic benefits
Eligibility Infants aged 1 day to 12 months with diagnosed Krabbe disease
Treatment Approach Gene therapy (FBX-101) combined with stem cell transplantation
Primary Outcomes Safety assessment and stem cell transplant engraftment
Secondary Outcomes Improvements in motor function and development

FAQ

  • What is Krabbe disease? Krabbe disease is a rare genetic disorder that affects the nervous system. It is caused by a deficiency in an enzyme called galactocerebrosidase (GALC), which leads to the buildup of harmful substances in the brain and nerves, causing damage and developmental problems.
  • What is the purpose of the RESKUE clinical trial? The RESKUE trial aims to evaluate the safety of a gene therapy called FBX-101 (AAVrh10-hGALC) when administered to infants with Krabbe disease who are also receiving stem cell transplantation. The study also seeks to collect evidence of potential therapeutic benefits from this treatment approach.
  • How is the gene therapy administered in this trial? The gene therapy, FBX-101, is administered intravenously (through a vein) to participants 21 to 60 days after they have received a stem cell transplant.
  • Who is eligible to participate in this clinical trial? The trial is open to infants aged 1 day to 12 months who have been diagnosed with infantile Krabbe disease and are eligible for stem cell transplantation. Participants must meet specific criteria related to their diagnosis, organ function, and overall health status.
  • What are the main outcomes being measured in this study? The primary outcomes include the safety of FBX-101, measured by the incidence and severity of adverse events, and the success of stem cell transplantation. Secondary outcomes focus on improvements in motor function, such as the ability to sit independently and overall gross motor development, compared to untreated patients or those receiving only stem cell transplantation.

Ongoing Clinical Trials on Adeno-Associated Virus Serotype Rh10 Containing The Human Galc Gene

  • Study on Gene Therapy with AAVrh10 for Infants with Krabbe Disease Undergoing Stem Cell Transplantation

    Not yet recruiting

    1 1
    Investigated diseases:
    Investigated drugs:
    Spain

Glossary

  • Krabbe disease: A rare genetic disorder affecting the nervous system, caused by a deficiency in the enzyme galactocerebrosidase (GALC), leading to the buildup of harmful substances in the brain and nerves.
  • AAVrh10-hGALC: An adeno-associated virus serotype rh10 containing the human GALC gene, used as a gene therapy vector in this clinical trial.
  • FBX-101: The investigational gene therapy product used in this clinical trial, consisting of AAVrh10-hGALC.
  • Hematopoietic Stem Cell Transplantation (HSCT): A procedure in which healthy blood-forming stem cells are transplanted into a patient to replace damaged or diseased cells.
  • Galactocerebrosidase (GALC): An enzyme that breaks down certain fats in the body. A deficiency in GALC causes Krabbe disease.
  • Psychosine: A toxic substance that accumulates in the brain and nerves of patients with Krabbe disease due to the lack of GALC enzyme.
  • Myeloablative conditioning: A preparatory treatment that destroys bone marrow cells before stem cell transplantation.
  • Veno-occlusive disease (VOD): A condition affecting blood flow in the liver, which can occur as a complication of stem cell transplantation.
  • Peabody Developmental Motor Scale 2nd Edition (PDMS-2): A standardized test used to assess gross motor function and development in children.

References

  1. http://clinicaltrials.eu/trial/study-on-gene-therapy-with-aavrh10-for-infants-with-krabbe-disease-undergoing-stem-cell-transplantation/