Serine
| Evidence Level: L5 | Predicted Indications: 10 |
Table of Contents
Serine: From Maple Syrup Urine Disease (Acute Decompensation) to Familial Visceral Myopathy
One-Sentence Summary
Serine (Maapliv) is an amino acid product originally authorized in the EU for acute decompensation episodes of maple syrup urine disease (MSUD). The TxGNN model predicts it may be effective for familial visceral myopathy, but no clinical trials and no relevant publications currently support this prediction.
Quick Overview
| Item | Content |
|---|---|
| Original Indication | Maple syrup urine disease (MSUD) presenting with an acute decompensation episode in patients from birth who are not eligible for an oral and enteral BCAA-free formulation |
| Predicted New Indication | Familial visceral myopathy |
| TxGNN Prediction Score | 99.99% |
| Evidence Level | L5 |
| EU Market Status | Cancelled only (no currently valid authorization) |
| Number of Authorizations | 1 (cancelled) |
| Recommended Decision | Hold |
Why is This Prediction Reasonable?
Currently, detailed mechanism of action data is not available. Serine is a proteinogenic amino acid. Its efficacy in the original indication (MSUD acute decompensation) rests on a metabolic and nutritional role, and nothing in the data compiled for this report links that role to the predicted disease.
Familial visceral myopathy is a genetic disorder of visceral smooth muscle (for example, ACTG2-related disease). The data compiled for this report do not support a mechanistic link between serine and visceral smooth muscle dysfunction. The very high score (99.99%) most likely reflects proximity in the knowledge graph rather than biological evidence, so it should be read as a hypothesis-generating signal only.
The other top-ranked predictions are also unsupported. Many are intestinal pseudo-obstruction or glaucoma entries that appear to be graph neighbours of one another. Literature retrieved for two of them (intestinal obstruction and angle-closure glaucoma) matched the word “serine” in serine proteases and serine/threonine kinases such as PRSS56 and STK11, not serine as a therapy.
Clinical Trial Evidence
Currently no related clinical trials registered.
Literature Evidence
Currently no related literature available.
EU Market Information
| Authorization Number | Product Name | Dosage Form | Approved Indication |
|---|---|---|---|
| EMEA/H/C/005557 (cancelled) | Maapliv | Not specified | Maapliv is indicated for the treatment of maple syrup urine disease (MSUD) presenting with an acute decompensation episode in patients from birth who are not eligib… |
Safety Considerations
- Disease associations flagged in the knowledge graph (not label text): the TxGNN knowledge graph (PrimeKG) lists contraindication links to several conditions. These are not drawn from the product label and need verification against the SmPC. They include:
- Kidney and urinary disease: kidney disease, chronic kidney disease, end-stage renal failure, nephrolithiasis, nephrocalcinosis, acute urate nephropathy
- Metabolic and endocrine disease: diabetes mellitus, diabetic ketoacidosis, hypercalcemia, phosphorus metabolism disease
- Cardiovascular disease: heart disease, ventricular fibrillation, digitalis poisoning
- Neuropsychiatric disease: epilepsy, psychotic and schizophrenia-spectrum disorders, anxiety disorder, substance abuse/dependence
- Haematological disease: vitamin B12 deficiency, megaloblastic anemia
- Other: sarcoidosis
No drug interaction data were found. Please refer to the SmPC for label-based warnings and contraindications.
Conclusion and Next Steps
Decision: Hold
Rationale: The prediction rests on model score alone (L5), with no trials, no relevant literature, and no supported mechanism. The only authorization is cancelled, so there is no active EU market presence.
To proceed, the following is needed:
- Mechanism of action data and a plausible biological rationale linking serine to visceral smooth muscle function
- Targeted literature review that excludes serine protease and serine/threonine kinase false matches
- Label-based safety data from the EMA product information, including warnings and contraindications
- Review of why the authorization was cancelled, and of dosage form and route compatibility with the proposed use (chronic, not acute, treatment)
Disclaimer
This content is for research purposes only and does not constitute medical advice. Clinical validation is required before any clinical application.