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Equipo francés de investigación clínica ofrece un tratamiento pediátrico basado en alopurinol para el trastorno autista


Oferta Tecnológica
Un equipo de investigación de un hospital universitario francés ha desarrollado un nuevo tratamiento pediátrico para el trastorno autista causado por la deficiencia de una enzima específica. Por primera vez el uso de alopurinol ofrece una opción terapéutica para reducir la síntesis de metabolitos tóxicos en pacientes con deficiencia de adenilosuccinatoliasa (ADSL), con la perspectiva de prevenir efectos perjudiciales en el cerebro. El tratamiento tiene una eficiencia a largo plazo y se aplica en pacientes de 0 a 5 años. El equipo de investigación busca socios de la industria farmacéutica con el fin de establecer acuerdos de investigación o licencia para el desarrollo clínico de esta nueva terapia.


Allopurinol-based paediatric treatment of autistic disorders proposed by a French clinical research team
An innovative paediatric treatment for autistic disorders coming from a specific enzyme deficiency, has been set up by a university hospital research team. Pharmaceutical Industrial partners are requested for either a research agreement or a licensing agreement, dedicated to the clinical development of this innovative therapy.
A French clinical research team has developped an innovative paediatric treatment for autistic disorders coming from a specific enzym deficiency. The team is represented by a Technology Transfer Office (TTO) which aims to create the best conditions to bring to market innovative products and services directly from hospital care and clinical research.

Market challenges :
Adenylosuccinate lyase (ADSL) deficiency is an autosomal recessive metabolic orphan disease. This rare disease is characterized by an altered metabolism, which affects some molecules which are components of DNA (deoxyribonucleic acid). This alteration results in mental retardation, autistic disorders, or even encephalopathy and seizures.
Its prevalence is estimated between 1/200000 and 1/1000 and there is no therapy at all. Mental and autistic disorders have a strong impact with adverse consequences such as non-inclusive schools and jobs as well as costly medical and social care of these patients.
As for other orphan diseases with a very low-scale market size, incentive measures have been taken by most of governemental organizations such as full reimbursement and fast-track market authorization.
There is a strong need to design an active principle showing a significant impact which could be used in paediatrics, so that most of adverse consequences could be significantly reduced, including economic expenses.

State of the art :
Because of its genetic origin, ADSL deficiency diagnosis can be performed on very young children in order to set up early treatment. It relies on biochemical detection of the following ADSL substrates in biological fluids : succinyl-amino-imidazole carboxamide riboside (SAICAr), and succinyl-adenosine (S-Ado).
Until now, there is no available treatment which has been proved to reduce the synthesis of such neurotoxic substrates. Currently, treatment options are limited to seizure management in the severe form of ADSL deficiency by means of symptomatic and antiepileptic drugs as well as ketogenic diet.

Proposed technology :
It has been shown on a low-scale patient group that the drug allopurinol significatively slows down the synthesis of the neurotoxic metabolite SAICAr after 6 months. This new effect results from the modulation of a key enzyme which is the hypoxanthine phosphoribosyltransferase (HPRT).
Thus, the use of allopurinol offers for the first time a therapeutic option for reducing the synthesis of toxic metabolites in ADSL deficient patients, with the prospect of preventing subsequent deleterious effects in the brain.

Expected outcomes :
The TTO is looking for pharmaceutical companies interested in either a research agreement or a licensing agreement, dedicated to further clinical development.

Keywords :
Adenylosuccinate lyase deficiency - Rare disease - Metabolic disease -Pharmacotherapy - Orphan drug - Repurposing drug - Allopurinol - Pediatric psychiatry
Advantages and Innovations:
For the first time, the proposed technology offers a pharmacotherapy for psychiatric disorders induced by Adenylosuccinate lyase (ADSL) deficiency.

Advantages :
- The treatment is able to produce a long-term efficiency,
- it is appliable for children (0-5-y old patients),
- it helps to prevent the neurotoxic consequences of the above-mentionned deficiency.

Pharmaceutical companies interested in the allopurinol repurposing are requested for technology transfer prior to clinical development.
Stage of Development:
Under development/lab tested
Patents granted
CommeR Statunts Regarding IPR Status:
French patent.

Partner sought

Type and Role of Partner Sought:
The Technology Transfer Office is looking for any-size interested pharmaceutical companies for the clinical development of the technology, starting from phase 1.


Type and Size of Client:
R&D Institution
Already Engaged in Trans-National Cooperation:
Languages Spoken:


Technology Keywords:
06001002 Investigaciones clínicas, ensayos
06001014 Neurología, investigación cerebral
06001015 Productos farmacéuticos / medicamentos
06002003 Tecnología de enzimas