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Overview

This clinical trial aims to evaluate and compare novel and commercially available diagnostic assays through blood tests for the differential diagnosis and comprehensive assessment of patients experiencing recurrent angioedema attacks, including both urticarial and non-urticarial angioedema. The primary objective is to assess the efficiency of novel diagnostic assays, both individually and in combination, in comparison to currently available commercial tests. The ultimate goal is to establish the feasibility of developing an affordable and accurate laboratory test capable of diagnosing the diverse etiological manifestations of angioedema.

Start Date15 Jan 2024

Sponsor / Collaborator

Foundation For Rare Diseases

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NCT05415540

/ CompletedNot ApplicableIIT

Changes in the Quality of Life and Experience of Young Women With Utero-vaginal Aplasia (MRKHPSY)

This study aims to evaluate the global evolution of the quality of life on patients diagnosed with MRKH syndrome (Mayer-Rokitansky-Kuster-Hauser), 8 to 10 years after the first research.

Start Date04 Oct 2022

Sponsor / Collaborator

Assistance Publique des Hôpitaux de Paris SA

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100 Clinical Results associated with Foundation For Rare Diseases

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0 Patents (Medical) associated with Foundation For Rare Diseases

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Literatures (Medical) associated with Foundation For Rare Diseases

01 Apr 2025·Molecular Genetics and Metabolism

SIMPATHIC: Accelerating drug repurposing for rare diseases by exploiting SIMilarities in clinical and molecular PATHology

Letter

Author: IntHout, Joanna ; van Karnebeek, Clara D M ; Roes, Kit C B ; Wilkinson, Mark D ; Müller, Annelieke R ; 't Hoen, Peter A C ; de Oliveira Martins, Sofia ; Benkemoun, Laura ; Sanchez, Anna ; Rigter, Tessel ; de Kort, Martin ; Prigione, Alessandro ; Boussaad, Ibrahim ; Schipper, Raymond ; Cornel, Martina C

Rare diseases affect over 400 million people worldwide, with approved treatment available for less than 6 % of these diseases. Drug repurposing is a key strategy in the development of therapies for rare disease patients with large unmet medical needs. The process of repurposing drugs compared to novel drug development is a time-saving and cost-efficient method potentially resulting in higher success rates. To accelerate and ensure sustainability in therapy development for rare neurometabolic, neurological, and neuromuscular diseases, an international consortium SIMilarities in clinical and molecular PATHology (SIMPATHIC) has been established where we move away from the one drug one disease concept and move towards one drug targeting a pathomechanism shared between diseases, by applying parallel preclinical and clinical drug development. Here the consortium describes accelerators of drug repurposing pursued by the consortium, including 1) co-creation, 2) patient empowerment, 3) use of standardized induced pluripotent stem cell (iPSC)-derived disease models and cellular and molecular profiling, 4) high-throughput drug screening in neurons, 5) innovative clinical trial design, and 6) selection of appropriate exploitation and patient access models. In this way, a fast and effective drug repurposing pathway for several rare diseases will be established to reduce time from discovery to patient access.

100 Deals associated with Foundation For Rare Diseases

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100 Translational Medicine associated with Foundation For Rare Diseases

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