Crigler-Najjar syndrome: looking to the future does not make us forget the present

被引：1

作者：

Di Dato, Fabiola ^{[1
]}

D'Uonno, Giuseppe ^{[1
]}

Iorio, Raffaele ^{[1
]}

机构：

[1] Univ Naples Federico II, Dept Translat Med Sci, Sect Pediat, Via Sergio Pansini 5, IT-80131 Naples, Italy

来源：

ORPHANET JOURNAL OF RARE DISEASES | 2024年 / 19卷 / 01期

关键词：

Gene therapy; Liver transplantation; Phenobarbital; Phototherapy;

D O I：

10.1186/s13023-024-03108-x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Recently, the safety and efficacy of gene therapy were evaluated in patients with Crigler-Najjar syndrome (CNS). Although it is a promising curative option for CNS, many doubts still persist about its long-term efficacy and safety. Furthermore, there is a risk of overlooking several unresolved problems still present in current clinical practice. This letter is a call for action on crucial open issues that remain nowadays an unmet need in the management of CNS patients.

引用

页数：3

共 11 条

[1] CHRONIC NONHEMOLYTIC UNCONJUGATED HYPERBILIRUBINEMIA WITH GLUCURONYL TRANSFERASE DEFICIENCY - CLINICAL, BIOCHEMICAL, PHARMACOLOGIC AND GENETIC EVIDENCE FOR HETEROGENEITY [J].

ARIAS, IM ;

GARTNER, LM ;

COHEN, M ;

EZZER, JB ;

LEVI, AJ .

AMERICAN JOURNAL OF MEDICINE, 1969, 47 (03) :395-&

[2] What's next in gene therapy for Crigler-Najjar syndrome? [J].

Aronson, Sem J. ;

Ronzitti, Giuseppe ;

Bosma, Piter J. .

EXPERT OPINION ON BIOLOGICAL THERAPY, 2023, 23 (02) :119-121

[3] Advances in understanding disease mechanisms and potential treatments for Crigler-Najjar syndrome [J].

Bortolussi, Giulia ;

Muro, Andres Fernando .

EXPERT OPINION ON ORPHAN DRUGS, 2018, 6 (07) :425-439

[4]

CRIGLER JF, 1952, AMA AM J DIS CHILD, V83, P259

[5] Pharmacological Therapies for Unconjugated Hyperbilirubinemia [J].

Cuperus, F. J. C. ;

Hafkamp, A. M. ;

Hulzebos, C. V. ;

Verkade, H. J. .

CURRENT PHARMACEUTICAL DESIGN, 2009, 15 (25) :2927-2938

[6] Gene Therapy in Patients with the Crigler-Najjar Syndrome [J].

D'Antiga, Lorenzo ;

Beuers, Ulrich ;

Ronzitti, Giuseppe ;

Brunetti-Pierri, Nicola ;

Baumann, Ulrich ;

Di Giorgio, Angelo ;

Aronson, Sem ;

Hubert, Aurelie ;

Romano, Roberta ;

Junge, Norman ;

Bosma, Piter ;

Bortolussi, Giulia ;

Muro, Andres F. ;

Soumoudronga, Ravaka F. ;

Veron, Philippe ;

Collaud, Fanny ;

Knuchel-Legendre, Nathalie ;

Labrune, Philippe ;

Mingozzi, Federico .

NEW ENGLAND JOURNAL OF MEDICINE, 2023, 389 (07) :620-631

[7] Long-Term Follow-Up of the First in Human Intravascular Delivery of AAV for Gene Transfer: AAV2-hFIX16 for Severe Hemophilia B [J].

George, Lindsey A. ;

Ragni, Margaret, V ;

Rasko, John E. J. ;

Raffini, Leslie J. ;

Samelson-Jones, Benjamin J. ;

Ozelo, Margareth ;

Hazbon, Maria ;

Runowski, Alexa R. ;

Wellman, Jennifer A. ;

Wachtel, Katie ;

Chen, Yifeng ;

Anguela, Xavier M. ;

Kuranda, Klaudia ;

Mingozzi, Federico ;

High, Katherine A. .

MOLECULAR THERAPY, 2020, 28 (09) :2073-2082

[8] Clinical Practice Guideline Revision: Management of Hyperbilirubinemia in the Newborn Infant 35 or More Weeks of Gestation [J].

Kemper, Alex R. ;

Newman, Thomas B. ;

Slaughter, Jonathan L. ;

Maisels, M. Jeffrey ;

Watchko, Jon F. ;

Downs, Stephen M. ;

Grout, Randall W. ;

Bundy, David G. ;

Stark, Ann R. ;

Bogen, Debra L. ;

Holmes, Alison Volpe ;

Feldman-Winter, Lori B. ;

Bhutani, Vinod K. ;

Brown, Steven R. ;

Panayotti, Gabriela M. Maradiaga ;

Okechukwu, Kymika ;

Rappo, Peter D. ;

Russell, Terri L. .

PEDIATRICS, 2022, 150 (03)

[9] Too late to say it is too early - How to get children with non-cirrhotic metabolic diseases transplanted at the right time? [J].

Macchiaiolo, M. ;

Bartuli, A. ;

McKiernan, P. ;

Dionisi-Vici, C. ;

de Goyet, J. de Ville .

PEDIATRIC TRANSPLANTATION, 2012, 16 (07) :671-674

[10] Evaluating the state of the science for adeno-associated virus integration: An integrated perspective [J].

Sabatino, Denise E. ;

Bushman, Frederic D. ;

Chandler, Randy J. ;

Crystal, Ronald G. ;

Davidson, Beverly L. ;

Dolmetsch, Ricardo ;

Eggan, Kevin C. ;

Gao, Guangping ;

Gil-Farina, Irene ;

Kay, Mark A. ;

McCarty, Douglas M. ;

Montini, Eugenio ;

Ndu, Adora ;

Yuan, Jing .

MOLECULAR THERAPY, 2022, 30 (08) :2646-2663

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