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Article ; Online: Clenbuterol Treatment Is Safe and Associated With Slowed Disease Progression in a Small Open-Label Trial in Patients With Amyotrophic Lateral Sclerosis.

Li, Xiaoyan / Koeberl, Dwight D / Lutz, Michael W / Bedlack, Richard

Journal of clinical neuromuscular disease

2023 Volume 24, Issue 4, Page(s) 214–221

Abstract: Objective: Clenbuterol, a beta-agonist, has plausible mechanisms for treating amyotrophic lateral sclerosis (ALS). In this highly inclusive open-label trial (NCT04245709), we aimed to study the safety and efficacy of clenbuterol in patients with ALS.: ...

Abstract	Objective: Clenbuterol, a beta-agonist, has plausible mechanisms for treating amyotrophic lateral sclerosis (ALS). In this highly inclusive open-label trial (NCT04245709), we aimed to study the safety and efficacy of clenbuterol in patients with ALS. Methods: All participants received clenbuterol starting at 40 μg daily and increased to 80 μg twice daily. Outcomes included safety, tolerability, ALS Functional Rating Score (ALSFRS-R) progression, forced vital capacity (FVC) progression, and myometry. ALSFRS-R and FVC slopes measured during treatment were compared with slopes before treatment (calculated by assuming ALSFRS-R was 48 and FVC was 100% at ALS onset). Results: The 25 participants had a mean age of 59, mean disease duration of 43 months, ALSFRS-R score at enrollment 34, and FVC at enrollment 77%. Forty-eight percent were female, 68% were taking riluzole, and none were taking edaravone. Two participants experienced severe adverse events, neither related to the study. Twenty-four participants experienced adverse events, most commonly tremors/jitters, cramps/spasms, insomnia, and stiffness/spasticity. Fourteen participants withdrew early from the trial, 13 due to adverse events. Patients who withdrew early were significantly older and more likely to be male. Per-protocol and intention-to-treat analyses showed meaningfully slower ALSFRS-R and FVC progression during treatment. Hand grip dynamometry and myometry changes were highly variable between participants; most declined slowly, but some showed improvements. Conclusions: Clenbuterol was safe but less tolerable at the doses we selected compared with an earlier Italian case series. Consistent with that series, our study suggested benefits on ALS progression. However, the latter result should be interpreted with caution as our study is limited by small sample size, large drop out, lack of randomization, and blinding and placebo controls. A larger, more traditional trial now seems warranted.
MeSH term(s)	Humans ; Female ; Male ; Middle Aged ; Amyotrophic Lateral Sclerosis ; Clenbuterol ; Hand Strength ; Riluzole ; Disease Progression
Chemical Substances	Clenbuterol (XTZ6AXU7KN) ; Riluzole (7LJ087RS6F)
Language	English
Publishing date	2023-05-23
Publishing country	United States
Document type	Journal Article
ZDB-ID	1454947-5
ISSN	1537-1611 ; 1522-0443
ISSN (online)	1537-1611
ISSN	1522-0443
DOI	10.1097/CND.0000000000000438
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Zs.A 5293: Show issues

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Article ; Online: Vision of correction for classic homocystinuria.

Koeberl, Dwight D

The Journal of clinical investigation

2016 Volume 126, Issue 6, Page(s) 2043–2044

Abstract: Inherited metabolic disorders are often characterized by the lack of an essential enzyme and are currently treated by dietary restriction and other strategies to replace the substrates or products of the missing enzyme. Patients with homocystinuria lack ... ...

Abstract	Inherited metabolic disorders are often characterized by the lack of an essential enzyme and are currently treated by dietary restriction and other strategies to replace the substrates or products of the missing enzyme. Patients with homocystinuria lack the enzyme cystathionine β-synthase (CBS), and many of these individuals do not respond to current treatment protocols. In this issue of the JCI, Bublil and colleagues demonstrate that enzyme replacement therapy (ERT) provides long-term amelioration of homocystinuria-associated phenotypes in CBS-deficient murine models. A PEGylated form of CBS provided long-term stability and, when used in conjunction with the methylation agent betaine, dramatically increased survival in mice fed a normal diet. The results of this study provide one of the first examples of ERT for a metabolic disorder and suggest that PEGylated CBS should be further explored for use in patients.
MeSH term(s)	Animals ; Betaine ; Cystathionine beta-Synthase/deficiency ; Disease Models, Animal ; Homocystinuria/enzymology ; Humans ; Mice ; Phenotype
Chemical Substances	Betaine (3SCV180C9W) ; Cystathionine beta-Synthase (EC 4.2.1.22)
Language	English
Publishing date	2016--01
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Comment
ZDB-ID	3067-3
ISSN	1558-8238 ; 0021-9738
ISSN (online)	1558-8238
ISSN	0021-9738
DOI	10.1172/JCI88251
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Ua VI Zs.184: Show issues

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Article ; Online: From hospital to home following a lower limb amputation: A focus group study of healthcare professionals' views and experiences with transitioning.

Køberl, Sarah / Schrøder, Katja / Dall-Hansen, Dorte / Abrahamsen, Charlotte

International journal of orthopaedic and trauma nursing

2023 Volume 49, Page(s) 101003

Abstract: Introduction: Patients undergoing major lower limb amputation often have multiple comorbidities, requiring care from numerous healthcare professionals (HCPs). Furthermore, they may experience physical, medical and practical challenges post-amputation. ... ...

Abstract	Introduction: Patients undergoing major lower limb amputation often have multiple comorbidities, requiring care from numerous healthcare professionals (HCPs). Furthermore, they may experience physical, medical and practical challenges post-amputation. Patients with complex needs are particularly vulnerable during care transitions and may benefit from integrated care models. Aim: This study aimed to explore HCPs' views and experiences regarding the transition process after implementing an integrated care model for patients with lower limb amputation. Methods: We conducted two focus groups with 13 HCPs from a Danish hospital and three surrounding districts; all working in the Safe Journey programme. The interviews were analysed using thematic analysis. Results: Three themes were created: 1) becoming a team across sectors, 2) continuity of care as a driver for patient safety and 3) challenges in achieving safe transitions. The Safe Journey programme facilitated the construction of an interdisciplinary team, cross-sectoral communication and professional relations, increasing HCPs' sense of improved patient safety and care continuity. However, HCPs experienced an increased workload, including coordination and at-home patient visits. Conclusions: HCPs found the Safe Journey programme to be valuable for patients undergoing major lower limb amputation and promotive of cross-sectoral professional relations, communication, continuity and patient safety. However, the programme was time- and resource-consuming compared to conventional models.
MeSH term(s)	Humans ; Focus Groups ; Qualitative Research ; Hospital to Home Transition ; Attitude of Health Personnel ; Health Personnel ; Lower Extremity
Language	English
Publishing date	2023-02-14
Publishing country	England
Document type	Journal Article
ZDB-ID	2537649-4
ISSN	1878-1292 ; 1878-1241
ISSN (online)	1878-1292
ISSN	1878-1241
DOI	10.1016/j.ijotn.2023.101003
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Article ; Online: A natural choice for hemophilia B.

Koeberl, Dwight D

Blood

2015 Volume 125, Issue 10, Page(s) 1509–1510

Abstract: In this issue of Blood, Crudele et al describe a novel study of adeno-associated virus (AAV) vector-mediated gene therapy that induced immune tolerance to factor IX (FIX) in a hemophilia B (HB) dog with previously formed anti-FIX inhibitor antibodies ( ... ...

Abstract	In this issue of Blood, Crudele et al describe a novel study of adeno-associated virus (AAV) vector-mediated gene therapy that induced immune tolerance to factor IX (FIX) in a hemophilia B (HB) dog with previously formed anti-FIX inhibitor antibodies (IAs).
MeSH term(s)	Animals ; Factor IX/antagonists & inhibitors ; Genetic Therapy/methods ; Hemophilia B/genetics ; Hemophilia B/therapy ; Humans ; Male
Chemical Substances	Factor IX (9001-28-9)
Language	English
Publishing date	2015-03-05
Publishing country	United States
Document type	Journal Article ; Comment
ZDB-ID	80069-7
ISSN	1528-0020 ; 0006-4971
ISSN (online)	1528-0020
ISSN	0006-4971
DOI	10.1182/blood-2015-01-622506
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Uh III Zs.140: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular ab Jg. 2022: Lesesaal (EG)
Zs.MO 364: Show issues

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Article: Liver depot gene therapy for Pompe disease.

Kishnani, Priya S / Koeberl, Dwight D

Annals of translational medicine

2019 Volume 7, Issue 13, Page(s) 288

Abstract: Gene therapy for Pompe disease has advanced to early phase clinical trials, based upon proof-of-concept data indicating that gene therapy could surpass the benefits of the current standard of care, enzyme replacement therapy (ERT). ERT requires frequent ... ...

Abstract	Gene therapy for Pompe disease has advanced to early phase clinical trials, based upon proof-of-concept data indicating that gene therapy could surpass the benefits of the current standard of care, enzyme replacement therapy (ERT). ERT requires frequent infusions of large quantities of recombinant human acid α-glucosidase (GAA), whereas gene therapy involves a single infusion of a vector that stably transduces tissues to continuously produce GAA. Liver-specific expression of GAA with an adeno-associated virus (AAV) vector established stable GAA secretion from the liver accompanied by receptor-mediated uptake of GAA, which corrected the deficiency of GAA and cleared the majority of accumulated glycogen in the heart and skeletal muscle. Liver depot gene therapy was equivalent to ERT at a dose of the AAV vector that could be administered in an early phase clinical trial. Furthermore, high-level expression of GAA has decreased glycogen stored in the brain. A unique advantage of liver-specific expression stems from the induction of immune tolerance to GAA following AAV vector administration, thereby suppressing anti-GAA antibodies that otherwise interfere with efficacy. A Phase I clinical trial of AAV vector-mediated liver depot gene therapy has been initiated based upon promising preclinical data (NCT03533673). Overall, gene therapy promises to address limits of currently available ERT, if clinical translation currently underway is successful.
Language	English
Publishing date	2019-08-07
Publishing country	China
Document type	Journal Article ; Review
ZDB-ID	2893931-1
ISSN	2305-5847 ; 2305-5839
ISSN (online)	2305-5847
ISSN	2305-5839
DOI	10.21037/atm.2019.05.02
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Article ; Online: Gene therapy for glycogen storage diseases.

Koeberl, Dwight D / Koch, Rebecca L / Lim, Jeong-A / Brooks, Elizabeth D / Arnson, Benjamin D / Sun, Baodong / Kishnani, Priya S

Journal of inherited metabolic disease

2023 Volume 47, Issue 1, Page(s) 93–118

Abstract: Glycogen storage disorders (GSDs) are inherited disorders of metabolism resulting from the deficiency of individual enzymes involved in the synthesis, transport, and degradation of glycogen. This literature review summarizes the development of gene ... ...

Abstract	Glycogen storage disorders (GSDs) are inherited disorders of metabolism resulting from the deficiency of individual enzymes involved in the synthesis, transport, and degradation of glycogen. This literature review summarizes the development of gene therapy for the GSDs. The abnormal accumulation of glycogen and deficiency of glucose production in GSDs lead to unique symptoms based upon the enzyme step and tissues involved, such as liver and kidney involvement associated with severe hypoglycemia during fasting and the risk of long-term complications including hepatic adenoma/carcinoma and end stage kidney disease in GSD Ia from glucose-6-phosphatase deficiency, and cardiac/skeletal/smooth muscle involvement associated with myopathy +/- cardiomyopathy and the risk for cardiorespiratory failure in Pompe disease. These symptoms are present to a variable degree in animal models for the GSDs, which have been utilized to evaluate new therapies including gene therapy and genome editing. Gene therapy for Pompe disease and GSD Ia has progressed to Phase I and Phase III clinical trials, respectively, and are evaluating the safety and bioactivity of adeno-associated virus vectors. Clinical research to understand the natural history and progression of the GSDs provides invaluable outcome measures that serve as endpoints to evaluate benefits in clinical trials. While promising, gene therapy and genome editing face challenges with regard to clinical implementation, including immune responses and toxicities that have been revealed during clinical trials of gene therapy that are underway. Gene therapy for the glycogen storage diseases is under development, addressing an unmet need for specific, stable therapy for these conditions.
MeSH term(s)	Animals ; Glycogen Storage Disease Type II/genetics ; Glycogen Storage Disease Type II/therapy ; Glycogen Storage Disease/genetics ; Glycogen Storage Disease/therapy ; Glycogen Storage Disease/metabolism ; Glycogen Storage Disease Type I/genetics ; Glycogen Storage Disease Type I/therapy ; Glycogen Storage Disease Type I/complications ; Liver/metabolism ; Glycogen/metabolism ; Genetic Therapy/methods ; Carcinoma, Hepatocellular/pathology ; Liver Neoplasms/pathology
Chemical Substances	Glycogen (9005-79-2)
Language	English
Publishing date	2023-07-27
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	438341-2
ISSN	1573-2665 ; 0141-8955
ISSN (online)	1573-2665
ISSN	0141-8955
DOI	10.1002/jimd.12654
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Article: Critical sample collection delayed? Urine organic acid analysis can still save the day! A new case of HMG-CoA synthase deficiency.

Williams, Monika / Menkovic, Iskren / Reitnauer, Pamela / Gilbert, Eileen / Koeberl, Dwight / Young, Sarah P / Stiles, Ashlee R

Molecular genetics and metabolism reports

2024 Volume 38, Page(s) 101062

Abstract: Mitochondrial 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) synthase (mHS) deficiency is an autosomal recessive disorder of ketone body synthesis caused by biallelic pathogenic variants ... ...

Abstract	Mitochondrial 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) synthase (mHS) deficiency is an autosomal recessive disorder of ketone body synthesis caused by biallelic pathogenic variants in
Language	English
Publishing date	2024-02-01
Publishing country	United States
Document type	Case Reports
ZDB-ID	2821908-9
ISSN	2214-4269
ISSN	2214-4269
DOI	10.1016/j.ymgmr.2024.101062
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Article ; Online: The interplay of psychosis and non-compliance with fatal outcome in an adult with MSUD.

Falah, Nadia / Pendyal, Surekha / Sasannejad, Cina / Gibson, Allison / Lee, Yu Lin / McDonald, Marie / Koeberl, Dwight

American journal of medical genetics. Part A

2024 , Page(s) e63637

Abstract: Significant progress has been achieved in enhancing early outcomes for individuals with maple syrup urine disease (MSUD), a rare metabolic disorder that leads to the accumulation of branched-chain amino acids leucine, isoleucine, and valine, where ... ...

Abstract	Significant progress has been achieved in enhancing early outcomes for individuals with maple syrup urine disease (MSUD), a rare metabolic disorder that leads to the accumulation of branched-chain amino acids leucine, isoleucine, and valine, where leucine is known as the primary neurotoxic metabolite. Newborn screening is helpful in early diagnosis and implementation of dietary treatment, thus reducing neurological deterioration and complications in young children. However, patients face the life-long challenge of maintaining metabolic control through adherence to a strict low-leucine diet to avoid long-term consequences of chronic hyperleucinemia, which include cognitive deficits, mood disorders, and movement disorders. This case report exemplifies the complex involvement of MSUD in adult survivors. Despite presenting early in life, the patient thrived until the onset of psychiatric symptoms. The subject of this case is a 25-year-old woman with MSUD, who remained in her usual state of health until presentation to the emergency department (ED) with psychosis and altered mental status. However, due to a lack of medical records and poor communication, there was a delay in considering MSUD as a primary cause of her psychiatric symptoms. Although a genetics consultation was later arranged and efforts were made to decrease plasma leucine to the therapeutic range, these interventions proved inadequate in halting her deterioration in health. Her condition worsened within 72 h, culminating in her untimely death. This case emphasizes the comorbidity of psychiatric involvement in MSUD, which contributes to metabolic decompensation that can lead to cerebral edema and death. This case also highlights the pressing need for enhanced strategies for the acute management and long-term care of MSUD patients with psychiatric involvement, particularly in scenarios where mental disturbance could lead to noncompliance.
Language	English
Publishing date	2024-04-29
Publishing country	United States
Document type	Case Reports
ZDB-ID	2108614-X
ISSN	1552-4833 ; 0148-7299 ; 1552-4825
ISSN (online)	1552-4833
ISSN	0148-7299 ; 1552-4825
DOI	10.1002/ajmg.a.63637
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Zs.A 1376/A: Show issues

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Article: Screening data from 19 patients with late-onset Pompe disease for a phase I clinical trial of AAV8 vector-mediated gene therapy.

Hannah, William B / Case, Laura E / Smith, Edward C / Walters, Crista / Bali, Deeksha / Kishnani, Priya S / Koeberl, Dwight D

JIMD reports

2023 Volume 64, Issue 5, Page(s) 393–400

Abstract: Late-onset Pompe disease (LOPD) is a multisystem disorder with significant myopathy. The standard treatment is enzyme replacement therapy (ERT), a therapy that is lifesaving, yet with limitations. Clinical trials have emerged for other potential ... ...

Abstract	Late-onset Pompe disease (LOPD) is a multisystem disorder with significant myopathy. The standard treatment is enzyme replacement therapy (ERT), a therapy that is lifesaving, yet with limitations. Clinical trials have emerged for other potential treatment options, including adeno-associated virus (AAV) gene therapy. We present clinical parameters and AAV antibody titers for 19 individuals with LOPD undergoing screening for a Phase I clinical trial with an AAV serotype 8 vector targeting hepatic transduction (AAV2/8-LSPhGAA). Reported clinical parameters included
Language	English
Publishing date	2023-08-17
Publishing country	United States
Document type	Journal Article
ZDB-ID	2672872-2
ISSN	2192-8312 ; 2192-8304
ISSN (online)	2192-8312
ISSN	2192-8304
DOI	10.1002/jmd2.12391
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Article ; Online: In search of proof-of-concept: gene therapy for glycogen storage disease type Ia.

Koeberl, Dwight D

Journal of inherited metabolic disease

2012 Volume 35, Issue 4, Page(s) 671–678

Abstract: The emergence of life threatening long-term complications in glycogen storage disease type Ia (GSD-Ia) has emphasized the need for new therapies, such as gene therapy, which could achieve biochemical correction of glucose-6-phosphatase deficiency and ... ...

Abstract	The emergence of life threatening long-term complications in glycogen storage disease type Ia (GSD-Ia) has emphasized the need for new therapies, such as gene therapy, which could achieve biochemical correction of glucose-6-phosphatase deficiency and reverse clinical involvement. We have developed gene therapy with a novel adeno-associated virus (AAV) vector that: 1) prevented mortality and corrected glycogen storage in the liver, 2) corrected hypoglycemia during fasting, and 3) achieved efficacy with a low number of vector particles in G6Pase-deficient mice and dogs. However, the gradual loss of transgene expression from episomal AAV vector genomes eventually necessitated the administration of a different pseudotype of the AAV vector to sustain dogs with GSD-Ia. Further preclinical development of AAV vector-mediated gene therapy is therefore warranted in GSD-Ia.
MeSH term(s)	Animals ; Dependovirus/genetics ; Genetic Therapy/methods ; Genetic Vectors/genetics ; Glycogen Storage Disease Type I/genetics ; Glycogen Storage Disease Type I/metabolism ; Glycogen Storage Disease Type I/therapy ; Humans
Language	English
Publishing date	2012-02-07
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	438341-2
ISSN	1573-2665 ; 0141-8955
ISSN (online)	1573-2665
ISSN	0141-8955
DOI	10.1007/s10545-012-9454-5
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