JIMD Podcasts

Dr Marc Patterson and Dr Eugen Mengel explain the challenges of treating Niemann Pick Type C. Recent studies have shown the efficacy of Miglustat and Arimoclomol but they may end up forming just part of the puzzle being built to manage this condition.

Efficacy and safety of arimoclomol in Niemann-Pick disease type C: Results from a double-blind, randomised, placebo-controlled, multinational phase 2/3 trial of a novel treatment

Eugen Mengel, et al

https://doi.org/10.1002/jimd.12428

Long-term survival outcomes of patients with Niemann-Pick disease type C receiving miglustat treatment: A large retrospective observational study

Marc C. Patterson, et al

https://doi.org/10.1002/jimd.12245

Dr Chiara Pizzamiglio of the Department of Neuromuscular Diseases at Queen Square discusses her recent publication looking at a huge cohort of 197 patients with McArdle disease. Dr Pizzamiglio hi-lights the diagnostic challenges in this GSD and shows new insights into the spectrum of extra-muscular manifestations seen in the condition.

Phenotype and genotype of 197 British patients with McArdle disease: An observational single-centre study

Chiara Pizzamiglio et al

https://doi.org/10.1002/jimd.12438

Professor Warren Kruger of the Fox Chase Cancer Centre in Philadelphia joins the podcast to talk about homocystinuria, successful trials in gene therapy, why it costs so much to make viruses and what inspires him.

Long-term functional correction of cystathionine β-synthase deficiency in mice by adeno-associated viral gene therapy

Hyung-Ok Lee et al

https://doi.org/10.1002/jimd.12437

Interested listeners may also wish to look at:

Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency

Andrew A. M. Morris, et al

https://doi.org/10.1007/s10545-016-9979-0

Dr Elaine Murphy and Dr Robin Lachmann of the Charles Dent Metabolic Unit, look after over 400 adults with PKU. They join the podcast to discuss their recent work on long-term outcomes in early-treated Phenylketonuria and to hi-light some of their more interesting findings.

Long-term cognitive and psychosocial outcomes in adults with phenylketonuria

Lynne Aitkenhead et al

https://doi.org/10.1002/jimd.12413

In the latest podcast we've returning guest Professor Thorsten Marquardt and his colleague Dr Jörn Oliver Sass talking about their work with 3-Hydroxyisobutyrate dehydrogenase deficiency. Thorsten reports their success in using a low valine diet for an affected patient and Oliver discusses the challenge of differentiating disorder metabolism from disease.

3-Hydroxyisobutyrate dehydrogenase (HIBADH) deficiency—A novel disorder of valine metabolism

Melanie Meyer et al

https://doi.org/10.1002/jimd.12410

Melissa Broeks speaks with the podcast about her recent paper reviewing disorders of the malate aspartate shuttle, an essential pathway supporting respiratory chain activity. Melissa provides a wonderful overview of the background and clinical significance of the MAS, all of which can be explored further in her #openaccess paper.

Inborn disorders of the malate aspartate shuttle

Melissa H. Broeks, et al

https://doi.org/10.1002/jimd.12402

The 'Junge Stoffwechselmedizin' or Young Metabolic Society is an initiative in Germany intended to support early career doctors, dieticians, scientists and nurses interested in the IMD field. Young metabolists, Dr Heiko Brennenstuhl and Dr Vanessa Kock, explain just what it's all about.

They warmly welcome anyone who shares their vision of shaping the future of metabolic medicine in Europe (and beyond) to get in touch via [email protected].

The “Young Metabolic Society”: An interest group for young professionals in the field of metabolic medicine

https://doi.org/10.1002/jimd.12409

Professors Jun Kido, Johannes Häberle and Fanny Mochel discuss their recent work on Urea Cycle Disorders to hi-light the significance of this group of diseases. Jun and Johannes collaborated on a large natural history study in Japan of over 270 patients and Fanny recently reported on a large cohort of adults presenting with disease from 16-86 years of age. All three relate these findings to the first revision of the Guidelines for Management published in 2019.

Long-term outcome of urea cycle disorders: Report from a nationwide study in Japan

Jun Kido, et al

https://doi.org/10.1002/jimd.12384

Adult-onset diagnosis of urea cycle disorders: Results of a French cohort of 71 patients

Ségolène Toquet, et al

https://doi.org/10.1002/jimd.12403

Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision

Johannes Häberle, et al

https://doi.org/10.1002/jimd.12100

Professor Robin Lachmann of the Charles Dent Metabolic Unit discusses the science behind Enzyme Replacement Therapy and Gene Therapy and explains why these do, and sometimes do not, work in Lysosomal Storage Disorders. Professor Lachmann also discusses the progress towards establishing adult metabolic services in the UK and elsewhere.

Treating lysosomal storage disorders: What have we learnt?

Robin H. Lachmann

https://doi.org/10.1002/jimd.12131

Education and training in adult metabolic medicine: Results of an international survey

Annalisa Sechi, et al

https://doi.org/10.1002/jmd2.12044

Johannes Zschocke, Shamima Rahman, and Carlos Ferreira join hosts James Nurse and Eva Moreva to discuss their recent paper on the ICIMD, a new classification system that eloquently organises all things metabolic. They explain what's included, why it is necessary and just how simple it all is. Interested listeners should also read: Quo vadis: the re-definition of “inborn metabolic diseases” (https://doi.org/10.1007/s10545-015-9893-x)

An International Classification of Inherited Metabolic Disorders

Carlos R. Ferreira et al.

https://onlinelibrary.wiley.com/doi/10.1002/jimd.12348