MedPath

FDA Grants Rare Pediatric Disease and Orphan Drug Designations to Six Gene Therapies

• The FDA has granted Rare Pediatric Disease (RPD) and Orphan Drug Designations (ODD) to six investigational gene therapies developed under the Accelerating Medicines Partnership (AMP) Bespoke Gene Therapy Consortium (BGTC). • These designations aim to incentivize the development of gene therapies for rare diseases affecting children, offering financial benefits such as Priority Review Vouchers and tax credits. • The gene therapies target diseases including propionic acidemia, multiple sulfatase deficiency, and mucopolysaccharidosis IVA, addressing significant unmet needs in rare genetic disorders. • The BGTC, a public-private partnership, seeks to streamline gene therapy development for rare diseases, potentially attracting commercial sponsors and advancing these therapies to market.

The U.S. Food and Drug Administration (FDA) has granted Rare Pediatric Disease (RPD) and Orphan Drug Designations (ODD) to six investigational gene therapies, a move that could significantly accelerate their development for rare diseases. These therapies are being studied by the Accelerating Medicines Partnership® (AMP®) Bespoke Gene Therapy Consortium (BGTC). These designations are crucial for the BGTC’s mission to streamline the development of bespoke gene therapies for extremely rare diseases that often lack commercial interest.

Financial Incentives for Rare Disease Therapies

The RPD designation is granted when preclinical data suggest a treatment could be effective for a rare disease primarily affecting children. The ODD is given when data indicate a potential benefit for people with a rare disease. Both designations offer financial incentives, encouraging partners to further develop and commercialize these therapies. These incentives include Priority Review Vouchers (PRVs), tax credits for clinical trials, and exemptions from FDA user fees, which can amount to millions of dollars. ODD recipients also gain seven years of exclusive marketing rights upon drug approval.

Targeted Gene Therapies and Their Applications

NCATS is the sponsor for five of these therapies:
  • AAV9-hPCCB for propionic acidemia: A metabolic disorder in newborns causing muscle weakness, feeding difficulties, vomiting, dehydration, and seizures.
  • AAV9-SUMF1 for multiple sulfatase deficiency: An inherited brain disorder with symptoms ranging from seizures and developmental delays to skeletal and skin abnormalities.
  • AAV-NPHP5 for NPHPR mutation-associated retinal dystrophy: A degenerative eye disease affecting the retina, leading to vision loss and potential blindness.
  • AAV5-CNGB1 for autosomal recessive retinitis pigmentosa due to CNGB1 mutation: An inherited eye disease affecting the retina, causing impaired vision and possible blindness.
  • AAV8-hGALNS for mucopolysaccharidosis IVA (Morquio A syndrome): An inherited disease resulting in short stature, abnormal spine development, and heart and vision problems.
An RPD designation and an ODD were also granted to adeno-associated virus 8 (AAV8-hSLC4A11) for congenital hereditary endothelial dystrophy, sponsored by Anthony Aldave, M.D., at the University of California, Los Angeles. This genetic eye disorder affects the cornea, leading to vision problems.

Overcoming Challenges in Rare Disease Treatment

Scientists estimate that over 10,000 rare diseases exist, many caused by single gene defects. Gene therapy, which replaces a malfunctioning gene with a functional one, offers a potential treatment option. However, the limited patient population for most rare diseases makes it challenging for companies to invest in developing these therapies. Key challenges remain in gene delivery, manufacturing, and cost.

Expert Perspectives on the Impact of Designations

“Making gene therapies for rare diseases more attractive to potential commercial sponsors is one of the ultimate goals of the BGTC projects,” said Dominique Pichard, M.D., director of the NCATS Division of Rare Diseases Research Innovation.
NCATS Director Joni Rutter, Ph.D., explained, “Getting these designations increases the chance that the successful therapies will be picked up by a company and commercialized.”
Rebecca Ahrens-Nicklas, M.D., Ph.D., at Children’s Hospital of Philadelphia, a lead scientist for the BGTC gene therapy project focused on multiple sulfatase deficiency, added, “The economic incentives aren’t there for commercial partners. These designations are important to help push rare disease research forward so our patients aren’t left behind.”

Collaborative Efforts and Future Directions

The BGTC is a public-private partnership involving the NIH, FDA, pharmaceutical and life science companies, and patient advocacy groups. NCATS coordinates and leads the BGTC, with the Foundation for the National Institutes of Health (FNIH) managing the consortium as part of its AMP® program. The BGTC clinical programs aim to test the safety and preliminary effectiveness of gene therapies for eight rare diseases in early-phase trials, setting the stage for pivotal studies if successful.
Subscribe Icon

Stay Updated with Our Daily Newsletter

Get the latest pharmaceutical insights, research highlights, and industry updates delivered to your inbox every day.

Related Topics

uniQure Receives FDA Nod for Accelerated Approval Pathway for Huntington's Disease Gene Therapy

uniQure secured FDA agreement to pursue accelerated approval for its Huntington's disease gene therapy, potentially expediting treatment availability.
The FDA's decision reflects a more flexible approach to genetic medicines for severe rare diseases under Peter Marks.

FDA Grants Fast Track and Rare Pediatric Disease Designations to Gildeuretinol for Stargardt Disease

The FDA has granted rare pediatric disease and fast track designations to gildeuretinol, an oral therapy being developed by Alkeus Pharmaceuticals for Stargardt disease.
Clinical data from the TEASE-1 study showed gildeuretinol slowed the growth rate of atrophic retinal lesions by 21.6% compared to placebo over 24 months.

FDA Approves PTC Therapeutics' Gene Therapy Kebilidi for AADC Deficiency

The FDA has approved eladocagene exuparvovec-tneq (Kebilidi), a gene therapy developed by PTC Therapeutics, for treating AADC deficiency in adult and pediatric patients.
Kebilidi is the first FDA-approved gene therapy for AADC deficiency, a rare genetic disorder affecting neurotransmitter production and causing severe developmental delays.

FDA Approves PTC Therapeutics' Kebilidi, First Gene Therapy Dosed Directly into the Brain

The FDA has approved Kebilidi (eladocagene exuparvovec), a gene therapy by PTC Therapeutics, for aromatic L-amino acid decarboxylase (AADC) deficiency, a rare genetic disorder.
Kebilidi is the first gene therapy approved in the U.S. that involves direct administration into the brain, offering a novel approach to treating AADC deficiency.

FDA Approves Kebilidi, First Gene Therapy Directly Administered to the Brain for AADC Deficiency

The FDA has granted accelerated approval to Kebilidi (eladocagene exuparvovec-tneq), a gene therapy for both children and adults with AADC deficiency, a rare genetic disorder.
Kebilidi, developed by PTC Therapeutics, is the first gene therapy approved in the U.S. that is directly administered to the brain via a stereotactic surgical procedure.

FDA Clears Atamyo's ATA-200 Gene Therapy Trial for LGMD2C/R5 in Children

The FDA has approved Atamyo Therapeutics' Investigational New Drug application for ATA-200, a gene therapy for limb-girdle muscular dystrophy type 2C/R5 (LGMD2C/R5).
ATA-200 is the first potential treatment for LGMD2C/R5 to enter clinical development in the U.S., offering hope for children with this debilitating condition.

FDA Approves PTC Therapeutics' Kebilidi, First Direct-to-Brain Gene Therapy

The FDA has approved PTC Therapeutics' Kebilidi (eladocagene exuparvovec-tneq) for aromatic L-amino acid decarboxylase (AADC) deficiency, a rare genetic disorder.
Kebilidi is the first gene therapy approved by the FDA that is administered directly into the brain, specifically targeting the putamen region.

FDA Approves PTC Therapeutics' Kebilidi, First Gene Therapy for AADC Deficiency

The FDA has granted accelerated approval to PTC Therapeutics' Kebilidi (eladocagene exuparvovec-tneq) for treating AADC deficiency in patients aged 18 months and older.
Kebilidi is the first gene therapy administered directly to the brain to be approved in the United States for this rare genetic disorder.

Sangamo Therapeutics Plans Accelerated Approval Pathway for Fabry Disease Gene Therapy

Sangamo Therapeutics is pursuing accelerated approval from the FDA for its Fabry disease gene therapy, potentially expediting its path to market.
The FDA might allow Sangamo to use long-term data from its existing trial as a follow-up, foregoing the need for a separate confirmatory study.

MDA Launches Kickstart Program for Ultra-Rare Neuromuscular Disease Gene Therapy Development

The Muscular Dystrophy Association (MDA) has initiated the MDA Kickstart program to advance gene therapy development for ultra-rare neuromuscular diseases.
The first project focuses on gene therapy for Congenital Myasthenic Syndrome (CMS) caused by mutations in the CHAT gene, affecting around 200 individuals in the US.

Reference News

[1]
New FDA Designations May Jumpstart Gene Therapy Development
ncats.nih.gov · Oct 18, 2024

FDA granted NCATS Rare Pediatric Disease and Orphan Drug designations for five gene therapies targeting rare diseases, a...

© Copyright 2025. All Rights Reserved by MedPath
HomeTerms & ConditionsPrivacy Policy