ASIM-Councils
Expert-Network Promotes Advancement in Quality of Medical Care
ASIM Initiates Regular Exchange Between Experts in Inborn Errors of Metabolism
„Not only patients and their family members benefit from the mutual exchange of views and experiences. In order to meet the need for regular exchange on clinical issues in the care of adult patients, the Association for the Study of Inborn Errors of Metabolism (ASIM) has extablished telephone conferences for physicians, dieticians and other experts in inborn errors of metabolism.
These “ASIM Councils” will prospectively be held two to four times a year. ASIM experts may discuss any clinical questions and problems. These may relate to diagnostics, treatment or ethical questions including specific anonymized individual cases.
As a result of the need-based exchange of information, these councils may make an essential and immediate contribution to improving the quality of medical care for adult patients. Not only physicians who have previously had little experience with patients suffering from in born errors of metabolism benefit from the knowledge of their experienced colleagues. Concomitantly, the ASIM gains an overview of the most important questions and treatment aspects, conducive for further continuing medical education and research projects….“ 1
1 published in the magazine PHEline by the Association DIG PKU (German Interest Group Phenylketonuria and Related Inborn Errors of Metabolism e.V.)
No. | Date | Diagnosis | General Question |
2020-001 | Feb 25, 2020 | Amyotrophic Lateral Sclerosis | Immune absorption as therapeutic option |
2020-002 | Feb 25, 2020 | Suspected Gaucher Disease | Indication for ERT |
2020-003 | May 19, 2020 | M. Gaucher/ chronic pain syndrome | Pain related to M. Gaucher? |
2020-004 | May 19, 2020 | Glycogenosis Type 1a | Regenerate node in liver typical? |
2020-005 | May 19, 2020 | Class. type I homocystinuria (CBS deficiency) | Gravida: oral application of Betain? |
2020-006 | Aug 18, 2020 | Atypical PKU (Tetrahydropterin-Synthase Deficiency) |
Pause or continue Sapropterin ? |
2020-007 | Aug 18, 2020 | Glycogenosis 1a | 1. Further TG-lowering measures? 2. Application of Volanisorsen? |
2020-008 | Aug 18, 2020 | Fructose-1-6-Biphophatase deficiency | Experiences in adult patients and co-factors, if applicabble? |
2020-009 | Aug 18, 2020 | Diagnostic verification M. Gaucher | Indication of M. Gaucher? |
2020-010 | Nov 17, 2020 | M. Gaucher type 1 | Eliglustat? |
2020-011 | Nov 17, 2020 | M. Gaucher | Cerdelga ineffective? ERT indicated? |
2020-012 | Nov 17, 2020 | Hyperchylomicronaemia | Volanesorsen? |
2021-001 | Feb 16, 2021 | M. Gaucher / chron. hepatitis C1B / condition after Covid-Infection |
Aggravation M. Gaucher under Covid? |
2021-002 | Feb 16, 2021 | M. Gaucher Type I (non-neuronopathic), condition after pneumonia |
Pulmon. involvement in M. Gaucher? |
2021-003 | Feb 16, 2021 | Acute intermittent porphyria | Indication for Givosiran? |
2021-004 | May 18, 2021 | Acid Sphingomyelinase Deficiency (ASMD) | Immune Diagnostics? |
2021-005 | May 18, 2021 | M. Gaucher | Change to oral therapy? |
2021-006 | May 18, 2021 | Familial chylomicronaemia syndrome (FCS) | Continue with Volanesorsen? Dosage increase? |
2021-007 | May 18, 2021 | Follow-up to case 2020-007 Triglycerides often >8000 mg/dl |
Supply via PEG to stabilize glucose absorption? |
2021-008 | May 18, 2021 | Alkaptonuria | Experience with Nitisinon? |
2021-009 | May 18, 2021 | M. Gaucher | Dosage increase? Further Diagnostics? |
2021-010 | Oct 12, 2021 | Alkaptonuria | Half life/Duration of action/ Therapeutic target? Nitosinin dosage? Medication? |
2021-011 | Oct 12, 2021 | Unclear splenomegaly/unspecific alterations in the bone | Further diagnostics |
2021-012 | Oct 12, 2021 | Irritable bowel, increased methylmalonic acid | Further examination? |
2021-013 | Oct 12, 2021 | PKU-patients and SARS-Cov-2-vaccinations with mRNA vaccines | Experience/ side effects? |
2022-001 | Jan 18, 2022 | PKU | Therapy with Palynziq? Phe-parameters sufficiently high? |
2022-002 | Jan 18, 2022 | M. Gaucher | Therapy with Eliglustat? |
2022-003 | Jan 18, 2022 | Homocystinuria | Homocystinuria without homocystinuria? |
2022-004 | Jan 18, 2022 | Mitochondrial trifunctional protein (MTP) deficiency | Experience with Trihepatoin Therapy? |
2022-005 | May 24, 2022 | Glycogenosis Type 1a, 2 liver lesions | Experience? LTX and GSD 1a? |
2022-006 | August 23, 2022 | M. Gaucher? | Indication for Therapy? |
2022-007 | August 23, 2022 | Lysosomal acid lipase deficiency (LAL-D) | Dosage increase? Lipid lowering therapy? |
2022-008 | Nov 11, 2022 | M. Gaucher | Specific osteoporosis therapy? If so, osteoanabolic or antiresoprtive? |
2022-009 | Nov 11, 2022 | Atypical PKU | As to prolactin: accept or increase of Nacom or increase of Rizatriptan or Cabergolin? |
2022-010 | Nov 11, 2022 | Alkaptonuria | Orfadin 4mg\ml suspension,SUS 90 ml|0,1 ml/d reasonable? |
2023-001 | Febr 21, 2023 | Alkaptonuria | Varying dosages Orfadin? Experience with Orfadin and statins? Checking homogentisic acid invariably in 24-h-timed urine sample and tyrosine in blood? |
2023-002 | Febr 21, 2023 | Abetalipoproteinemia | How to optimize therapy when therapy compliance is limited as to infusions? |
2023-003 | Febr 21, 2023 | Alpha-mannosidosis | Which parameters to determine the course of the disorder? Which parameters as to continuation of therapy? |
2023-004 | May 16, 2023 | Primary systemic carnitine deficiency | Carnitine supplementation? Which follow-ups? Target values? |
2023-005 | May 16, 2023 | Slight OTC deficiency | Arginine? Which follow-ups? Target values? |
2023-006 | August 15,2023 | Hereditary hyperchylomicronaemia | Further Measures? |
2023-007 | August 15,2023 | Typical PKU | Continue or terminate Pegvaliase-therapy? |
2023-008 | August 15,2023 | Polygenic hypertriglyceridemia | Application of Volanesorsen? |