The research carried out at our Institutes has pinpointed promising therapeutic strategies for combating a number of diseases. Such results are the result of years spent investigating the mechanisms underlying genetic diseases, and developing innovative forms of treatment. Concrete answers are now emerging for all patients.

Marketed treatment

Metachromatic Leukodystrophy

Metachromatic leukodystrophy is a very serious neurodegenerative disease. Thanks to research conducted at the San Raffaele-Telethon Institute in Milan, in 2010 a clinical trial was set up involving patients from all over the world suffering from this serious genetic disease. Additional patients have been treated under  an expanded access program and with a cryo-preserved formulation. In 2020 Fondazione Telethon, Ospedale San Raffaele and the manufacturer, Orchard Therapeutics announced that the gene therapy has been approved in Europe under the name Libmeldy. The drug is indicated for children with the late-infantile or juvenile-early-onset forms who have not yet manifested clinical signs of the disease, and for those with the juvenile-early-onset form who are still able to walk independently and have not yet presented a decline in cognitive abilities.

Ada-Scid

ADA-SCID is one of the first inherited diseases to be successfully treated with gene therapy. Thanks to the research conducted at the San Raffaele-Telethon Institute in Milan, an effective gene therapy has been developed to counter this serious immunodeficiency disease that appears early on, in the first months of life. It manifests as recurrent, aggressive infections. The trial therapy was administered to patients all over the world. It was found to be both safe and capable of restoring immune system functions. Thanks to an agreement stipulated with GlaxoSmithKline, and now licenced by Orchard Therapeutics LTD , the outstanding results obtained by researchers at the San Raffaele Telethon Institute for Gene Therapy in Milan have been turned into a marketed treatment: Strimvelis.

Clinical trial

Wiskott-Aldrich Syndrome

This rare immunodeficiency disease targets males. Onset occurs already during the first months of life. Thanks to research conducted at the San Raffaele-Telethon Institute in Milan, a clinical trial was initiated in 2010, involving patients from all over the world suffering from this immunodeficiency disorder which is characterised by recurrent, aggressive infections and a tendency to haemorrhages, blood tumours and autoimmunity. Additional patients have been treated under an expanded access program and with a cryo-preserved formulation. The first results have been most encouraging. So far, gene therapy has also been shown to be capable of safely restoring these patients’ immune defences. If these results are confirmed over time, it will be possible to make this therapy available to all patients worldwide, thanks to an agreement stipulated with GlaxoSmithKline initially and now with Orchard Therapeutics LTD.

Thalassaemia

Thalassaemia is one of the most frequently occurring hereditary diseases. It is particularly frequent in the Mediterranean basin area. Thanks to research conducted at the San Raffaele-Telethon Institute in Milan, a clinical trial was started in 2015 involving patients with a hereditary haemoglobin defect. The only treatment available to date for such patients is bone marrow transplantation (which is not always possible) or transfusion (to be performed on a regular basis, with concurrent administration of medication to prevent toxic accumulation of iron). The study, whose recruitment is now complete, involved both adult and child patients who are in the follow-up phase.

Mucopolysaccharidosis type 1

Mucopolysaccharidosis type 1 is a metabolic disease affecting infants. It targets various organs, including skeleton and heart. Thanks to research conducted at the San Raffaele-Telethon Institute in Milan, a gene therapy has been developed in the laboratory that may be able to correct the genetic defect at the root of this condition. The only treatment available to date is bone marrow transplantation. However, this treatment is only partially effective. The clinical trial on patients started in 2018 and first results were published in 2021.

Mucopolysaccharidosis type 6

This is an extremely rare disease, targeting above all the skeleton, eyes and heart of infants. At present, the only available treatment is enzyme replacement therapy, which is not entirely effective. Thanks to research conducted at the Telethon Institute in Pozzuoli, gene therapy has been developed in the laboratory that could correct the genetic defect at the root of this disease. A clinical trial with patients started in 2017, in collaboration with the university hospital of Naples Federico II, with positive results especially at higher doses.

Preclinical development – Advanced stage

Stargardt Syndrome

Stargardt syndrome is a hereditary eye disease leading to gradual loss of eyesight. No treatments are available for this disease, which inevitably leads to blindness. Researchers at the Telethon Institute in Pozzuoli are developing a gene therapy to provide patients with a functioning version of the defective gene. The initial results in an animal model are very encouraging, and could be transferred to human medicine in just a few years’ time.

Retinitis Pigmentosa

Retinitis pigmentosa  is a hereditary eye disease. It causes a gradual loss of eyesight. On the strength of the results achieved in previous studies concerned with Leber congenital amaurosis, researchers at Tigem have teamed up with American colleagues to work towards the application of gene therapy to this disease too, to correct the genetic defect at the root of the condition.

Usher Syndrome

Another form of retinitis pigmentosa is the autosomal recessive Usher syndrome (USH), the most common combination of genetic deafness and  blindness due to retinitis pigmentosa. Researchers at Tigem demonstrated that gene therapy based on dual AAV is safe and effective in animal models. With the prospect of starting patient trials soon, a natural history clinical trial of the disease is underway.

Haemophilia

Haemophilia is one of the more common hereditary diseases. It manifests as a blood coagulation defect. The only treatment available at present is periodic administration of the missing coagulation factor. However, over time, the efficacy of the factor may diminish. Researchers at Tiget in Milan are developing a gene therapy solution, in vivo, that they hope will be a long-term and effective therapy.

Clinical development: our team

We employ a skilled Clinical development team in order to manage clinical studies.
The Head of Clinical Development  (HCD) is accountable for the end to end operational management of Telethon clinical studies and ensure that they all receive adequate support and resources and are executed in compliance with clinical trial governance and regulatory requirements. The team consists of data and study managers, clinical monitors, regulatory officers and quality managers and collaborates mainly with the two Telethon Institutes, SR-Tiget in Milan and Tigem in Pozzuoli (Naples), contributing to move projects from basic research to clinical research and taking care of all study management activities by coordinating dedicated local staff, such as the study and data manager, the clinical monitor and the regulatory officer, who conduct daily study activities.The table below reports the activities for each of the above mentioned figures. In addition, the HDC provides advice and consultancy on clinical trial design and set up to scientist and researchers whose projects are to approach the clinical phase.

Our key figures:

  • Head of Clinical Development: he is accountable for and in charge of coordinating all study activities. He guarantees personnel qualification, accuracy and continuity of activities.
  • Quality Assurance Manager (QM): he's quality assurance referee, independent supervision on clinical trial management ensuring adherence to GCP and legislation (Det. AIFA requirements).
  • Clinical Study Manager (CSM): he's reference person and responsible for the coordination of the trial clinical operation activities.
  • Regulatory Affair Officer (RAO): he deals with ethical and regulatory submission, preparation and review of study documents, TMF, interaction with Ethical Committee and Competent Authorities.
  • Data Manager (DM): he is responsible for creation of CRF, data entry, data management, data extraction.
  • Clinical Research Nurse (CRN): he is responsible for patient and biological sample management.

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