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Delivering Gene Therapy for Rare Metabolic Condition Morquio A Syndrome

by Dr. Jayashree Gopinath on May 17, 2023 at 11:14 PM
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A first-of-its-kind gene therapy clinical trial for Morquio A syndrome will be conducted by Nemours Children's Health, a public-private collaboration between the National Institutes of Health (NIH), U.S. Food and Drug Administration (FDA), biopharmaceutical and life science companies, and non-profit and other organizations.


More than 10,000 known rare diseases affect over 30 million people in the United States. However, treatment options have been restricted due to small patient populations and limited commercial viability.

‘A promising clinical trial involving gene therapy could be life-changing for children affected by Morquio A syndrome.’

Given that more than 80% of rare diseases have genetic underpinnings, one consortium aims to address this bottleneck by streamlining the approval pathway for first-in-human gene therapy clinical trials.

On the first day of the American Society of Gene & Cell Therapy (ASGCT) 26th Annual Meeting, being held this week in Los Angeles, the Foundation for the National Institutes of Health (FNIH) announced the selection of eight rare diseases for the Accelerating Medicines Partnership Bespoke Gene Therapy Consortium's (AMP BGTC) clinical trial portfolio.

Gene Therapy: Promise of the Future for Patients with Rare Morquio A Syndrome

Nemours Children's was chosen for their Morquio A project proposal and will also be the site of the clinical trial. It is internationally renowned for diagnosing and treating Morquio A syndrome (), a rare skeletal dysplasia, affecting 1 in 200,000, caused by an inherited gene mutation.

Leading pediatric orthopedic researchers, surgeons, and geneticists at Nemours have established a nationally recognized skeletal dysplasia program. Furthermore, in 2021, additional NIH funding was established to develop a complete natural history for Morquio A syndrome.

Nemours researchers have also been studying new and innovative treatments to help cure this genetic disorder that causes serious complications including cervical spinal cord compression, short stature, flat feet, difficulty walking, tracheal obstruction, hearing loss, and heart valvular disease.

Most recently, researchers identified through murine models that Adeno-associated virus (AAV) gene therapy could be the answer for these patients (). With AAV gene therapy, patients are given a one-time infusion which consists of a viral vector containing the correct gene sequence that can transfer genetic material safely into tissues and cells.

The goal of this work is to help patients. With the knowledge we gain during this trial, we believe Nemours Children's Health will be able to offer Morquio patients the newest and most innovative therapies available.

Through this specialized public and private partnership with FNIH AMP, we can help realize our vision to create the healthiest generations of children.

For the remainder of the year, FNIH and Nemours will focus on refining the treatment protocol, planning, and hiring additional professional staff. Nemours Children's aims to start enrolment for the clinical trial in 2024.

References:
  1. Morquio A Syndrome: Diagnosis and Current and Future Therapies - (https:www.ncbi.nlm.nih.gov/pmc/articles/PMC4259875/#:~:text=Morquio%20A%20syndrome%20is%20an,6%2Dsulfate%20(C6S))
  2. Delivering gene therapy for mucopolysaccharide diseases - (https:www.frontiersin.org/articles/10.3389/fmolb.2022.965089/full)


Source: Eurekalert

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