TeamALD

TeamALD of the Amsterdam UMC is focused on all aspects of Adrenoleukodystrophy. #newbornscreening #biomarkers #clinicaltrials #patientcare #research #ALD

[TeamALD @ald_team]

Newborn screening undoubtedly improves the outcomes for many male patients. However, it also highlights new challenges, when the result is unclear. Resolving this issue requires collaboration among diagnostic labs, treating physicians, and researchers. 👉 https://t.co/ylwLTAhScc

[Stephan Kemp @StephanKempNL]

Population and newborn screening enable disease variant detection and timely treatment. However, screening may also uncover variants of uncertain significance (VUS). Identifying VUS poses a challenge in terms of diagnostic uncertainty and confusion. Free https://t.co/TtD1XSlidF

[Amsterdam UMC @amsterdamumc]

De #hielprik bij jongens wordt uitgebreid: pasgeboren jongens worden vanaf 1 oktober 2023 namelijk ook getest op de #stofwisselingsziekte adrenoleukodystrofie (ALD). ALD is de eerste geslachtsgebonden ziekte die wordt opgenomen in de hielprik #screening. https://t.co/hPnmfMTOIc

[TeamALD @ald_team]

Yes, we did it!! Following the highly successful pilot in 2021, the State Secretary of Health, Welfare and Sport (@MinVWS) has decided to add #adrenoleukodystrophy #ALD to the national newborn screening panel from October 1st, 2023.

[RIVM @rivm]

Vanaf 1 oktober 2023 wordt de #stofwisselingsziekte adrenoleukodystrofie (#ALD) toegevoegd aan de hielprikscreening. Het bloed van pasgeboren jongens wordt dan ook getest op ALD. Als de #ziekte op tijd wordt ontdekt, is deze bij jongens behandelbaar.

➡ https://t.co/WSm4jnOuk3

[TeamALD @ald_team]

Toevoeging van de #stofwisselingsziekte #ALD aan de #hielprik komt dichterbij. De voorbereiding voor het aanbieden van het implementatieplan aan @MinVWS is in volle gang. Met vandaag een stakeholdermeeting in @amsterdamumc. #gezondheidswinst @Metakids @Stofwissel_VKS @rivm

[The Journal of Inherited Metabolic Disease @JIMD_Editors]

New #podcast: @StephanKempNL returns to tell us about the pilot project for Sex-specific newborn screening for X-linked ALD in the Netherlands.

Soundcloud: https://t.co/bmalcbIQg7

Apple: https://t.co/7ITnEXsdSg

Spotify: https://t.co/XEgBubUI2z
#scicomm #newbornscreening

[TeamALD @ald_team]

The first sex-specific newborn screening program worldwide. Free accessible: https://t.co/2prXFsz64S
Screening of 71 208 newborns resulted in the identification of four boys with adrenoleukodystrophy. The algorithm is ready for nationwide ALD screening in the Netherlands.

[Neurology Today @NeurologyToday]

Via @GreenJournal: Experts suggest coordinating efforts to improve the diagnosis and management of patients with X-linked #adrenoleukodystrophy, a rare and unpredictable disease: https://t.co/ygnOHHNBzh

#neurology @neurotwitter @AANmember @ald_team

[TeamALD @ald_team]

Treatment of cerebral ALD: a highly informative review of the potential risks and benefits of hematopoietic stem cell transplant and lentivirus-based gene therapy. Free paper: https://t.co/IS9TXSvRgJ

[TeamALD @ald_team]

Viruses hijack host lipid metabolism for virus production by blocking ABCD1. Study shows no link between EBV and cerebral ALD, but other viruses - including coronavirus - remain environmental factors that may contribute to cerebral onset. Free paper: https://t.co/hqV5yeWm2Y

[TeamALD @ald_team]

@UlfUnited This is a trip down memory lane 😄Reuben Matalon, Hugo Moser and Bill Rizzo. Likely at one of the ULF scientific meetings in deKalb.

[Metakids @Metakids]

Onderzoek dat levens redt: vanaf 2023 kan de metabole ziekte ALD in de hielprik worden opgenomen. Met een succesvolle proef zijn al 4 pasgeboren patiëntjes opgespoord. Hoofdonderzoeker Stephan Kemp vertelt: https://t.co/o9aIBtW1i5

[TeamALD @ald_team]

An updated analysis of the known variants in ABCD1 as catalogued over the past 20 years. We illustrate the importance of collaboration and utility of the database as a scientific, clinical, and ALD-community-wide resource. Free: https://t.co/Pxy8UzIsDd @MDPIOpenAccess

[The Journal of Inherited Metabolic Disease @JIMD_Editors]

The JIMD Podcast is a fortnightly podcast intended to bring you insights from the world of IMD.

Soundcloud: https://t.co/U7HscsYHRC

Apple: https://t.co/getLP2mYTo

Spotify: https://t.co/uhlXnX3cbj

Google: https://t.co/453CiRR967

Or search for 'JIMD Podcasts' in google.

[Stephan Kemp @StephanKempNL]

Molecular Biomarkers for Adrenoleukodystrophy: An Unmet Need. The need for sensitive biomarkers to monitor and/or predict disease progression and evaluate therapy efficacy. On https://t.co/8XlKLKHaRC #mdpicells via @MDPIOpenAccess

[Stephan Kemp @StephanKempNL]

Identification of a variant of unknown significance - without a family history of disease - results in a diagnostic dilemma. Biochemical studies in #ALD fibroblasts classified 15/17 VUS in ABCD1 as likely pathogenic/benign. Free at https://t.co/xpOq7sAObK #mdpigenes @Genes_MDPI

[The Journal of Inherited Metabolic Disease @JIMD_Editors]

Another new #Visualabstract

Differential outcomes for frontal versus posterior demyelination in childhood cerebral #adrenoleukodystrophy

Thank you to Samuel Kroening who put this together.

Guptam et al

https://t.co/nHp5uhYsYd

@ald_team @ALD_Facts

[Stephan Kemp @StephanKempNL]

Multi-stakeholders perspective qualitative study on newborn screening expansion identified 2 types of perspectives: a “targeted-scope” vs. “broad scope” view regarding health gain and individual parental autonomy. Free at https://t.co/dxuEz2LcdO @FrontPediatrics @ZonMw @rivm

[Stephan Kemp @StephanKempNL]

Yorrick Jaspers presents our work on C26:0-lysoPC as a superior biomarker - compared to the traditional plasma VLCFA analysis - for the diagnosis of peroxisomal disorders at the #SSIEM2021 Check our #openaccess paper: https://t.co/UoovOQRAd2 @FrontiersIn ⁦@YorrickJaspers⁩

[TeamALD @ald_team]

@StopALD @StephanKempNL @LDNBSAction @aidanslaw @ALDConnect @UlfUnited The data from the two publications. Most women with ALD develop spinal cord disease. The onset is, in general, later in life than in males with ALD.