Delving into the Latest Updates on The Alagille Syndrome Alliance with Synapse

Overview

The goal of this interventional study is to test a hemostasis screening protocol and cardiac peri-procedural and post-operative hemostasis pathway to improving bleeding complications and improve patient survival for children with Alagille syndrome and complex cardiac conditions. The main questions it aims to answer are:
Are children with Alagille syndrome with cardiac anomalies more likely to have acquired von Willebrand syndrome (a condition that causes increased bleeding)
Does implementation of a novel screening protocol to detect pre-operative bleeding conditions decrease intra-operative and/or post-operative bleeding complications and mortality risk?
Does implementation of a novel screening protocol to detect and treat bleeding conditions cause thrombotic complications?
Participants will undergo additional hematology and bleeding disorder screening prior to cardiac surgery. They will additionally undergo a detailed family screening for a history of bleeding by a genetic counselor.
Researchers will compare these findings with children who have similar complex cardiac conditions requiring surgery, but who do not have Alagille syndrome to see if bleeding conditions and complications are more or less common in children with Alagille syndrome.

Start Date18 Apr 2023

Sponsor / Collaborator

Stanford University

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NCT01793168

/ RecruitingNot Applicable

Coordination of Rare Diseases at Sanford

CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access. Visit sanfordresearch.org/CoRDS to enroll.

Start Date01 Jul 2010

Sponsor / Collaborator

Sanford Health Corp.

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100 Clinical Results associated with The Alagille Syndrome Alliance

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Literatures (Medical) associated with The Alagille Syndrome Alliance

05 Feb 2025·Future Rare Diseases

Caring for patients with Alagille syndrome: a multinational survey investigating the mental health and financial burden on caregivers

Author: Lurz, Eberhard ; Gallop, Katy ; Terner-Rosenthal, Jolan ; Rosenthal, Philip ; Goldstein, Andrea ; Howard, Robin ; Dorey, Laure ; Laborde, Nolwenn ; Quadrado, Lucia ; Lacey, Guy ; Bork, Cher ; Smith, Roberta

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News (Medical) associated with The Alagille Syndrome Alliance

03 Jun 2024

·www.pharmaceutical-technology.com

EMA CHMP endorses Mirum Pharmaceuticals’ LIVMARLI for PFIC

Mirum is seeking to expand its label for younger PFIC patients in 2024 in the US. Credit: Kmpzzz/Shutterstock.com. The European Medicines Agency’s Committee for Medicinal Products for Human Use (CHMP) has recommended Mirum Pharmaceuticals ’ LIVMARLI (maralixibat) oral solution for the treatment of progressive familial intrahepatic cholestasis (PFIC) in patients aged three months and older. Recommended Buyer's Guides Buyer's Guide Leading Guide to Packaging Materials, Containers and Containment Services for the Pharmaceutical Industry Buyer's Guide Leading Guide to Clinical Packaging Companies in contract Manufacturing for the Pharmaceutical Industry The CHMP’s endorsement, a pivotal step towards marketing authorisation in Europe, is based on data from the Phase III MARCH study. It signifies a major advancement in the treatment options available for PFIC, a rare genetic liver disorder. The randomised trial involved 93 patients across a range of genetic PFIC types, including PFIC1, PFIC2, PFIC3, PFIC4, PFIC6 and unidentified mutational status. It demonstrated a highly statistically significant (p<0.0001) reduction in pruritus severity when compared to placebo across all PFIC types studied. CHMP’s positive opinion is complemented by the Committee for Orphan Medicinal Products’ (COMP) recommendation to maintain orphan drug designation for LIVMARLI in PFIC. See Also: J&J seeks expanded approvals for paediatric HIV-1 therapy FDA fast tracks Quince Therapeutics’ rare ataxia drug EryDex Mirum CEO Chris Peetz stated: “The positive and favourable opinions by both CHMP and COMP recognise the potential of LIVMARLI in treating patients with PFIC in Europe, underscoring the compelling long-term data collected in the largest PFIC study across a broad range of genetic types. “Further, we are thrilled that, if approved by the European Commission, the PFIC community will have a treatment option that has been shown to significantly improve key liver health parameters starting from three months of age.” After the CHMP and COMP opinions, the European Commission’s final decision on marketing authorisation is expected in the third quarter of 2024. LIVMARLI is already approved in Europe for treating cholestatic pruritus in Alagille syndrome (ALGS) patients aged two months and older. It is also approved in the US for ALGS patients three months and older and for PFIC patients five years and older. Mirum is seeking to expand its label for younger PFIC patients in the US in 2024. In March, the US Food and Drug Administration (FDA) approved Mirum’s LIVMARLI (maralixibat) oral solution to treat cholestatic pruritus.

Clinical ResultDrug ApprovalPhase 3Orphan Drug

100 Deals associated with The Alagille Syndrome Alliance

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100 Translational Medicine associated with The Alagille Syndrome Alliance

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