Rare Diseases – VJRegenMed

Trials evaluating the efficacy of CD20 CAR-T cell therapy in WM and CNS lymphoma

Anya Kerkache — Thu, 26 Jan 2023 12:11:24 +0000

Mazyar Shadman, MD, Fred Hutchinson Cancer Research Center, Seattle, WA, briefly describes an ongoing multi-center clinical trial investigating the efficacy and safety of CD20 CAR-T cell therapy in patients with Waldenström’s macroglobulinemia (WM) and CNS lymphoma. This interview took place at the 64th ASH Annual Meeting and Exposition congress in New Orleans, LA.

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Treating otoferlin deficiency with gene therapy

Simon Ng — Thu, 23 Jun 2022 09:28:24 +0000

Nawal Ouzren, Sensorion, Montpellier, France, gives an overview of the rationale behind developing a gene therapy for patients with hearing loss who have an otoferlin deficiency. Otoferlin is a protein expressed in inner hair cells, which is sensitive to a certain frequency. Initial in vivo studies have successfully restored expression of otoferlin in animal models, who have regained functional hearing as a result of the gene therapy. This interview was conducted during Meeting on the Mediterranean 2022.

Novel gene therapy solutions for Usher syndrome type I

Simon Ng — Thu, 23 Jun 2022 09:28:23 +0000

Usher syndrome type I is a rare, congenital disease characterized by issues in the vestibular system, resulting in deafness, balance issues and blindness. Nawal Ouzren, Sensorion, Montpellier, France, discusses research efforts in treating Usher syndrome type I with gene therapy. Whilst vestibular function has been successfully restored in animal models, further research is required to restore hearing. This interview was conducted during Meeting on the Mediterranean 2022.

Developing gene therapies for GJB2 gene related hearing loss

Simon Ng — Thu, 23 Jun 2022 09:28:22 +0000

Nawal Ouzren, Sensorion, Montpellier, France, describes ongoing research into developing gene therapies for patients with hearing loss due to mutations in the GJB2 gene. This form of hearing loss is the most common form of childhood deafness, and some forms of adult hearing loss can be attributed to certain mutations of the GJB2 gene. Current efforts include elucidating a suitable therapeutic candidate in animal models. This interview was conducted during Meeting on the Mediterranean 2022.

Overcoming manufacturing issues in gene therapies for rare diseases

Simon Ng — Wed, 20 Apr 2022 16:45:46 +0000

John Maslowski, CCO, Forge Biologics, Columbus, OH, discusses strategies to optimize the manufacturing of gene therapies for rare diseases. In addition to regulatory barriers, maintaining the consistency of the product is vital, especially when manufacturing occurs in large-scale bioreactors. To ensure the cost of production remains low and the patients’ needs are successfully met, he emphasizes the need to use automated analytical tools in a closed system. Assessing product quality via high throughput systems can expedite production times on a larger scale. This interview took place at Advanced Therapies Week 2022.

Innovations in treating rare diseases with gene therapies

Simon Ng — Wed, 20 Apr 2022 16:45:46 +0000

John Maslowski, CCO, Forge Biologics, Columbus, OH, comments on the current treatment landscape for rare diseases, especially in the field of gene therapies. With a large number of rare diseases lacking any form of treatment, finding curative solutions for these rare diseases remain an unmet need. Finding a suitable clinical model is essential to develop treatments, especially when the natural history group in a clinical trial is preferable to placebo groups, as in the case of studies targeting Krabbe disease. Introducing closed automated systems in the manufacturing process will additionally enable the production of gene therapies in an economical manner. This interview took place at Advanced Therapies Week 2022.

OTL-103: An autologous gene therapy for Wiskott Aldrich syndrome

Simon Ng — Thu, 03 Mar 2022 17:46:27 +0000

Kent Christopherson, PhD, Orchard Therapeutics, Boston, MA, provides an overview of OTL-103, an investigational autologous gene therapy utilizing a lentiviral gene construct for patients with Wiskott Aldrich syndrome (WAS). OTL-103 aims to insert the corrected version of the WAS gene in patients, who often result in non-functioning leucocytes and platelets. Administration of the functioning cells will result in the cells differentiating into immune cells as well as the progenitor cells to platelets and a clinical trial is currently underway to assess the efficacy of OTL-103. This interview took place at Advanced Therapies Week 2022.

Novel gene therapies for metachromatic leukodystrophy

Simon Ng — Thu, 03 Mar 2022 17:46:25 +0000

Kent Christopherson, PhD, Orchard Therapeutics, Boston, MA, describes the development and mechanism of action of atidarsagene autotemcel, a gene therapy consisting of an autologous CD34⁺ cell enriched population that contains hematopoietic stem and progenitor cells (HSPC) transduced using a lentiviral vector. The gene therapy, which has been approved in the EU, aims to treat metachromatic leukodystrophy (MLD) and the vector encodes the human arylsulfatase-A (ARSA) gene, which is faulty in patients with MLD. HSPC cells with the functional gene can subsequently produce the correct protein, which can be trafficked and permanently integrated in the central nervous system (CNS). This interview took place at Advanced Therapies Week 2022.

Challenges in manufacturing viral vectors for the clinic

Simon Ng — Mon, 28 Feb 2022 17:56:23 +0000

Nathalie Clement, PhD, Unicorn Consultations, Gainesville, FL, describes challenges in the development and production of clinically effective viral vectors. Manufacturing larger doses on a bigger scale has been a barrier for companies, and difficulties in purification has led to issues in potency and safety. Finding a standard method for purifying viral vectors is especially difficult when there are numerous varieties of viral vectors including adeno-associated viruses and lentiviruses. Whilst the demand for viral vector gene therapies have increased in certain disease areas such as Duchenne muscular dystrophy, safety concerns possibly relating to impurities in the product must be addressed. This interview took place at Advanced Therapies Week 2022.

Treating Krabbe disease with FBX-101

Simon Ng — Thu, 17 Feb 2022 12:04:56 +0000

Krabbe disease is a rare genetic disorder caused by a deficiency of the enzyme galactocerebrosidase (GALC) and can result in mortality in infants. John Maslowski, CCO, Forge Biologics, Columbus, OH, provides a brief overview of FBX-101, an adeno-associated virus (AAV)-based gene therapy for patients with Krabbe disease. The therapy is currently being assessed in the Phase I/II RESKUE trial (NCT04693598), where patients also receive a bone marrow transplant. FBX-101 has demonstrated preliminary efficacy and the trial will additionally assess safety as well as mobility in patients. This interview took place at Advanced Therapies Week 2022.