glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Summary

glycogen storage disease due to glucose-6-phosphatase deficiency type IA (MONDO:0009287) is a disease caused by G6PC1 (GenCC Definitive), with 5 cohort genes and 12 clinical trials. Top therapeutic interventions include lactic acid, prednisolone, and d-lactic acid.

At a glance

• Prevalence: 1-9 / 100 000 (Europe) [Orphanet-validated]
• Causal gene: G6PC1 (GenCC Definitive)
• Cohort genes: 5
• ClinVar variants: 587
• Clinical trials: 12

Clinical features

Epidemiology

Prevalence records

3 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Prevalence at birth	1-9 / 100 000	1	Europe	Validated
Prevalence at birth	1-9 / 100 000	1.7	Italy	Validated
Prevalence at birth	1-9 / 100 000	1.5	Israel	Validated

Identifiers

Disease identifiers

Field	Value
Canonical name	glycogen storage disease due to glucose-6-phosphatase deficiency type IA
Mondo ID	MONDO:0009287
MeSH	C538655
OMIM	232200
Orphanet	79258
DOID	DOID:2749
SNOMED CT	444707001
UMLS	C2919796
MedGen	415885
GARD	0007864
Is cancer (heuristic)	no

Also known as: G6P deficiency type 1a · G6PC glycogen storage disease · glucose-6-phosphatase deficiency glycogen storage disease · glycogen storage disease 1A · glycogen storage disease caused by mutation in G6PC · glycogen storage disease due to G6P deficiency type Ia · glycogen storage disease Ia · glycogen storage disease type 1a · glycogen storage disease type Ia · glycogenosis due to glucose-6-phosphatase deficiency type 1a · glycogenosis due to glucose-6-phosphatase deficiency type Ia · glycogenosis type Ia · GSD due to G6P deficiency type 1a · GSD due to G6P deficiency type Ia · GSD type 1a · GSD1 · GSD1A · GSDIa

Data availability: 587 ClinVar variants · 4 GenCC gene-disease records · 16 cell lines.

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › inborn errors of metabolism › inborn carbohydrate metabolic disorder › disorder of glycogen metabolism › glycogen storage disease I › glycogen storage disease due to glucose-6-phosphatase deficiency type IA

Related subtypes (2): glycogen storage disease type 1 due to SLC37A4 mutation, glycogen storage disease Id

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

587 retrieved; paginated sample, class counts are floors:

211 likely benign, 140 uncertain significance, 88 pathogenic, 60 likely pathogenic, 32 conflicting classifications of pathogenicity, 31 pathogenic/likely pathogenic, 17 benign, 7 benign/likely benign, 1 not provided

ClinVar	Variant (HGVS)	Gene	Classification	Review
557173	NM_054012.4(ASS1):c.808G>C (p.Glu270Gln)	ASS1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1030625	NM_000151.4(G6PC1):c.59A>G (p.Gln20Arg)	G6PC1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1071784	NM_000151.4(G6PC1):c.160_224dup (p.Phe75_Lys76insArgLysLeuTrpAlaLeuAsnSerPheGlyTer)	G6PC1	Pathogenic	criteria provided, single submitter
1072073	NC_000017.10:g.(?41055938)(41063453_?)del	G6PC1	Pathogenic	criteria provided, single submitter
1073829	NC_000017.10:g.(?41059530)(41059655_?)del	G6PC1	Pathogenic	criteria provided, single submitter
1074029	NM_000151.4(G6PC1):c.708G>A (p.Trp236Ter)	G6PC1	Pathogenic	criteria provided, single submitter
1076177	NM_000151.4(G6PC1):c.324del (p.Cys109fs)	G6PC1	Pathogenic	criteria provided, single submitter
1076798	NM_000151.4(G6PC1):c.365G>A (p.Gly122Asp)	G6PC1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
11997	NM_000151.4(G6PC1):c.379_380dup (p.Tyr128fs)	G6PC1	Pathogenic	criteria provided, multiple submitters, no conflicts
11998	NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys)	G6PC1	Pathogenic	criteria provided, multiple submitters, no conflicts
11999	NM_000151.4(G6PC1):c.883C>T (p.Arg295Cys)	G6PC1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
12000	NM_000151.4(G6PC1):c.1039C>T (p.Gln347Ter)	G6PC1	Pathogenic	criteria provided, multiple submitters, no conflicts
12001	NM_000151.4(G6PC1):c.229T>C (p.Trp77Arg)	G6PC1	Pathogenic	criteria provided, multiple submitters, no conflicts
12002	NM_000151.4(G6PC1):c.230+4A>G	G6PC1	Pathogenic	no assertion criteria provided
12003	NM_000151.4(G6PC1):c.648G>T (p.Leu216=)	G6PC1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
12004	NM_000151.4(G6PC1):c.113A>T (p.Asp38Val)	G6PC1	Pathogenic	criteria provided, multiple submitters, no conflicts
12005	NM_000151.4(G6PC1):c.328G>A (p.Glu110Lys)	G6PC1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
12006	NM_000151.4(G6PC1):c.370G>A (p.Ala124Thr)	G6PC1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
12008	NM_000151.4(G6PC1):c.562G>C (p.Gly188Arg)	G6PC1	Pathogenic	criteria provided, multiple submitters, no conflicts
12009	NM_000151.4(G6PC1):c.1022T>A (p.Ile341Asn)	G6PC1	Pathogenic	criteria provided, single submitter
12010	NM_000151.4(G6PC1):c.497T>G (p.Val166Gly)	G6PC1	Pathogenic	criteria provided, single submitter
1328936	NM_000151.4(G6PC1):c.592_593del (p.Ile198fs)	G6PC1	Pathogenic	criteria provided, multiple submitters, no conflicts
1334156	NM_000151.4(G6PC1):c.764C>T (p.Thr255Ile)	G6PC1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1682476	NM_000151.4(G6PC1):c.54C>A (p.Tyr18Ter)	G6PC1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1682484	NM_000151.4(G6PC1):c.202G>A (p.Gly68Arg)	G6PC1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1682491	NM_000151.4(G6PC1):c.302del (p.Leu101fs)	G6PC1	Pathogenic	criteria provided, single submitter
1682496	NM_000151.4(G6PC1):c.352G>A (p.Gly118Ser)	G6PC1	Pathogenic	criteria provided, single submitter
1682502	NM_000151.4(G6PC1):c.403_404del (p.Leu135fs)	G6PC1	Pathogenic	criteria provided, single submitter
1682506	NM_000151.4(G6PC1):c.450del (p.Cys150_Leu151insTer)	G6PC1	Pathogenic	criteria provided, single submitter
1682510	NM_000151.4(G6PC1):c.503_506dup (p.Arg170fs)	G6PC1	Pathogenic	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 4 · Orphanet: 7 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

Gene	Classification	Inheritance	Disease	Records
G6PC1	Definitive	Autosomal recessive	glycogen storage disease due to glucose-6-phosphatase deficiency type IA	4

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
G6PC1	Orphanet:79258	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia
MMAB	Orphanet:79311	Vitamin B12-responsive methylmalonic acidemia type cblB
SLC37A4	Orphanet:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
GAA	Orphanet:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset
GAA	Orphanet:420429	Glycogen storage disease due to acid maltase deficiency, late-onset
ASS1	Orphanet:247546	Acute neonatal citrullinemia type I
ASS1	Orphanet:247573	Late-onset citrullinemia type I

Cohort genes → proteins

5 cohort genes, 5 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	5

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
G6PC1	HGNC:4056	ENSG00000131482	P35575	Glucose-6-phosphatase catalytic subunit 1	gencc,clinvar
MMAB	HGNC:19331	ENSG00000139428	Q96EY8	Corrinoid adenosyltransferase MMAB	clinvar
SLC37A4	HGNC:4061	ENSG00000137700	O43826	Glucose-6-phosphate exchanger SLC37A4	clinvar
GAA	HGNC:4065	ENSG00000171298	P10253	Lysosomal alpha-glucosidase	clinvar
ASS1	HGNC:758	ENSG00000130707	P00966	Argininosuccinate synthase	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
G6PC1	Glucose-6-phosphatase catalytic subunit 1	Hydrolyzes glucose-6-phosphate to glucose in the endoplasmic reticulum.
MMAB	Corrinoid adenosyltransferase MMAB	Converts cob(I)alamin to adenosylcobalamin (adenosylcob(III)alamin), a coenzyme for methylmalonyl-CoA mutase, therefore participates in the final step of the vitamin B12 conversion.
SLC37A4	Glucose-6-phosphate exchanger SLC37A4	Inorganic phosphate and glucose-6-phosphate antiporter of the endoplasmic reticulum.
GAA	Lysosomal alpha-glucosidase	Essential for the degradation of glycogen in lysosomes.
ASS1	Argininosuccinate synthase	One of the enzymes of the urea cycle, the metabolic pathway transforming neurotoxic amonia produced by protein catabolism into inocuous urea in the liver of ureotelic animals.

Protein-family classification

Druggable: 5 · Difficult: 0 · Unknown: 0 · Druggable fraction: 1.0

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Enzyme (other)	3	7.2×	0.015
Phosphatase	1	16.8×	0.063
Transporter	1	15.6×	0.063

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
G6PC1	Phosphatase	yes	3.1.3.9	PAP2/HPO, Glucose-6-phosphatase, PAP2/HPO_sf
MMAB	Enzyme (other)	yes	2.5.1.17	CblAdoTrfase-like, PduO-typ, CblAdoTrfase-like_sf
SLC37A4	Transporter	yes		Sugar_P_transporter, MFS, MFS_dom
GAA	Enzyme (other)	yes	3.2.1.20	Glyco_hydro_31_TIM, P_trefoil_dom, Gal_mutarotase_sf_dom
ASS1	Enzyme (other)	yes	6.3.4.5	Arginosuc_synth, Rossmann-like_a/b/a_fold, Arginosuc_synth_CS

Expression context

Cohort genes with no expression data: 0.

5 cohort genes are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	5
unknown	0

Top tissues across cohort

Tissue	Cohort genes
right lobe of liver	4
liver	3
nephron tubule	1
right adrenal gland	1
right adrenal gland cortex	1
duodenum	1
granulocyte	1
left testis	1
right testis	1
palpebral conjunctiva	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
G6PC1	66	tissue_specific	marker	right lobe of liver, liver, nephron tubule
MMAB	235	ubiquitous	marker	right lobe of liver, right adrenal gland cortex, right adrenal gland
SLC37A4	134	ubiquitous	marker	right lobe of liver, liver, duodenum
GAA	261	ubiquitous	marker	granulocyte, left testis, right testis
ASS1	292	ubiquitous	marker	right lobe of liver, palpebral conjunctiva, liver

Protein interactions among cohort

Intra-cohort edges: 1.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
ASS1	3,101
G6PC1	2,193
GAA	2,116
SLC37A4	1,242
MMAB	1,121

Intra-cohort edges

A	B	Sources
G6PC1	SLC37A4	string_interaction

Structural data

PDB: 5 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
SLC37A4	O43826	25
GAA	P10253	19
G6PC1	P35575	6
MMAB	Q96EY8	6
ASS1	P00966	1

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 26. Enrichment computed across 5 evidence-associated genes (4 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 4 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Glycogen storage disease type Ia (G6PC)	1	2855.0×	0.004	G6PC1
Glycogen storage diseases	1	1427.5×	0.004	GAA
Defective MMAB causes MMA, cblB type	1	1427.5×	0.004	MMAB
Glycogen storage disease type II (GAA)	1	1427.5×	0.004	GAA
ASS1 variants cause citrullinemia	1	1427.5×	0.004	ASS1
Diseases of metabolism	2	40.2×	0.004	MMAB, GAA
Glycogen metabolism	1	475.8×	0.008	GAA
Metabolism	3	8.7×	0.008	MMAB, GAA, ASS1
Cobalamin (Cbl) metabolism	1	317.2×	0.009	MMAB
Urea cycle	1	219.6×	0.010	ASS1
Defects in cobalamin (B12) metabolism	1	203.9×	0.010	MMAB
Diseases of carbohydrate metabolism	1	203.9×	0.010	GAA
Glycogen breakdown (glycogenolysis)	1	190.3×	0.010	GAA
Cobalamin (Cbl, vitamin B12) transport and metabolism	1	158.6×	0.012	MMAB
Defects in vitamin and cofactor metabolism	1	150.3×	0.012	MMAB
Gluconeogenesis	1	109.8×	0.015	G6PC1
FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes	1	95.2×	0.016	G6PC1
Metabolism of water-soluble vitamins and cofactors	1	45.3×	0.032	MMAB
Interaction of NuRD complexes with transcription factors	1	31.7×	0.040	G6PC1
Metabolism of carbohydrates and carbohydrate derivatives	1	30.1×	0.040	GAA
Metabolism of vitamins and cofactors	1	29.1×	0.040	MMAB
Disease	2	6.5×	0.040	MMAB, GAA
Metabolism of amino acids and derivatives	1	16.9×	0.065	ASS1
Innate Immune System	1	6.4×	0.160	GAA
Neutrophil degranulation	1	5.8×	0.169	GAA
Immune System	1	3.2×	0.275	GAA

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 5 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
glucose-6-phosphate transport	2	1123.5×	7e-05	G6PC1, SLC37A4
glycogen catabolic process	2	481.5×	2e-04	G6PC1, GAA
gluconeogenesis	2	129.6×	0.002	G6PC1, SLC37A4
maltose metabolic process	1	3370.4×	0.002	GAA
obsolete argininosuccinate metabolic process	1	3370.4×	0.002	ASS1
sucrose metabolic process	1	3370.4×	0.002	GAA
obsolete vacuolar sequestering	1	3370.4×	0.002	GAA
glucose metabolic process	2	102.1×	0.002	SLC37A4, GAA
obsolete citrulline metabolic process	1	1685.2×	0.004	ASS1
glucose homeostasis	2	52.2×	0.004	G6PC1, SLC37A4
L-arginine biosynthetic process	1	1123.5×	0.004	ASS1
response to mycotoxin	1	1123.5×	0.004	ASS1
cellular response to oleic acid	1	1123.5×	0.004	ASS1
cellular response to amine stimulus	1	1123.5×	0.004	ASS1
diaphragm contraction	1	842.6×	0.005	GAA
cellular response to ammonium ion	1	674.1×	0.006	ASS1
response to resveratrol	1	674.1×	0.006	G6PC1
negative regulation of leukocyte cell-cell adhesion	1	561.7×	0.006	ASS1
aspartate metabolic process	1	421.3×	0.007	ASS1
midgut development	1	421.3×	0.007	ASS1
cellular response to laminar fluid shear stress	1	421.3×	0.007	ASS1
tissue development	1	374.5×	0.008	GAA
diaphragm development	1	374.5×	0.008	ASS1
response to carbohydrate	1	337.0×	0.008	G6PC1
cobalamin metabolic process	1	306.4×	0.008	MMAB
urate metabolic process	1	306.4×	0.008	G6PC1
response to caloric restriction	1	306.4×	0.008	G6PC1
glycophagy	1	280.9×	0.008	GAA
urea cycle	1	259.3×	0.008	ASS1
glucose 6-phosphate metabolic process	1	259.3×	0.008	G6PC1

Therapeutics

Drug target analysis

Approved (phase 4): 1 · Phase ≥3: 1 · Phased (≥1): 1 · Undrugged: 4

Druggability breadth: 4 of 5 evidence-associated genes (80%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Genes with an approved drug

The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.

Symbol	Example approved molecule
GAA	DIENESTROL

Top cohort targets by molecule count

Symbol	Molecules	Max phase
GAA	112	4
G6PC1	0	0
MMAB	0	0
SLC37A4	0	0
ASS1	0	0

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
DIENESTROL	4	GAA
MIGLUSTAT	4	GAA
DICLOFENAC SODIUM	4	GAA
DIBUCAINE	4	GAA
AMLEXANOX	4	GAA
MIGALASTAT	4	GAA
ARIPIPRAZOLE	4	GAA
DULOXETINE	4	GAA
LABETALOL HYDROCHLORIDE	4	GAA
MORICIZINE HYDROCHLORIDE	4	GAA
PHENYLEPHRINE HYDROCHLORIDE	4	GAA
DEMECLOCYCLINE HYDROCHLORIDE	4	GAA
DOXAZOSIN MESYLATE	4	GAA
PRILOCAINE HYDROCHLORIDE	4	GAA
FLUOROMETHOLONE	4	GAA
PHENELZINE SULFATE	4	GAA
RABEPRAZOLE SODIUM	4	GAA
METHYSERGIDE MALEATE	4	GAA
ACRISORCIN	4	GAA
ECONAZOLE NITRATE	4	GAA
ISOETHARINE MESYLATE	4	GAA
QUINESTROL	4	GAA
DEFEROXAMINE MESYLATE	4	GAA
MAPROTILINE HYDROCHLORIDE	4	GAA
EPINEPHRINE BITARTRATE	4	GAA
PROCHLORPERAZINE MALEATE	4	GAA
IRBESARTAN	4	GAA
OXYTETRACYCLINE	4	GAA
DOPAMINE HYDROCHLORIDE	4	GAA
PRAZOSIN HYDROCHLORIDE	4	GAA

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 4.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
GAA	280	Binding:267, Functional:13
G6PC1	8	Binding:8
SLC37A4	5	Binding:5
MMAB	1	Binding:1
ASS1	1	Binding:1

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
G6PC1	3.1.3.9	glucose-6-phosphatase
MMAB	2.5.1.17	corrinoid adenosyltransferase
GAA	3.2.1.20	alpha-glucosidase
ASS1	6.3.4.5	argininosuccinate synthase

Cohort genes with high screening signal

≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.

Symbol	ChEMBL assays
GAA	280

Pharmacogenomics

Cohort genes with a PharmGKB record: 5; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

30 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Compound	Max phase	Cohort target (bioactivity)
DIENESTROL	4	GAA
MIGLUSTAT	4	GAA
DICLOFENAC SODIUM	4	GAA
DIBUCAINE	4	GAA
AMLEXANOX	4	GAA
MIGALASTAT	4	GAA
ARIPIPRAZOLE	4	GAA
DULOXETINE	4	GAA
LABETALOL HYDROCHLORIDE	4	GAA
MORICIZINE HYDROCHLORIDE	4	GAA
PHENYLEPHRINE HYDROCHLORIDE	4	GAA
DEMECLOCYCLINE HYDROCHLORIDE	4	GAA
DOXAZOSIN MESYLATE	4	GAA
PRILOCAINE HYDROCHLORIDE	4	GAA
FLUOROMETHOLONE	4	GAA
PHENELZINE SULFATE	4	GAA
RABEPRAZOLE SODIUM	4	GAA
METHYSERGIDE MALEATE	4	GAA
ACRISORCIN	4	GAA
ECONAZOLE NITRATE	4	GAA
ISOETHARINE MESYLATE	4	GAA
QUINESTROL	4	GAA
DEFEROXAMINE MESYLATE	4	GAA
MAPROTILINE HYDROCHLORIDE	4	GAA
EPINEPHRINE BITARTRATE	4	GAA
PROCHLORPERAZINE MALEATE	4	GAA
IRBESARTAN	4	GAA
OXYTETRACYCLINE	4	GAA
DOPAMINE HYDROCHLORIDE	4	GAA
PRAZOSIN HYDROCHLORIDE	4	GAA

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	1	GAA
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	4	G6PC1, MMAB, SLC37A4, ASS1
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	0

Undrugged target profiles

4 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
G6PC1	8	—
MMAB	1	—
SLC37A4	5	—
ASS1	1	—

Clinical trials & evidence

Clinical trials

Clinical trials: 12.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	8
PHASE1/PHASE2	3
PHASE3	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT05139316	PHASE3	COMPLETED	A Study of Adeno-Associated Virus Serotype 8-Mediated Gene Transfer of Glucose-6-Phosphatase in Patients With Glycogen Storage Disease Type Ia (GSDIa)
NCT06735755	PHASE1/PHASE2	RECRUITING	A Phase 1/2, Dose-Exploration Study to Evaluate the Safety and Efficacy of BEAM-301 in Patients With Glycogen Storage Disease Type Ia (GSDIa)
NCT03517085	PHASE1/PHASE2	COMPLETED	Safety and Dose-Finding Study of DTX401 (AAV8G6PC) in Adults With Glycogen Storage Disease Type Ia (GSDIa)
NCT04311307	PHASE1/PHASE2	COMPLETED	Endogenous Glucose Production in Patients With Glycogen Storage Disease Type Ia
NCT06636383	Not specified	RECRUITING	Glycogen Storage Disease Type Ia (GSDIa) Disease Monitoring Program
NCT06843330	Not specified	RECRUITING	Accuracy of Lactate Meter in GSDIa
NCT07459582	Not specified	RECRUITING	Accuracy of Home Lactate Meter and Accu-chek Glucometer in Patients With Glycogen Storage Disease
NCT01854242	Not specified	COMPLETED	Study of the Relationship Between Glycogen Storage Disease Type Ia and Inflammatory Bowel Disease
NCT02054832	Not specified	COMPLETED	Sleep and Quality of Life in Patients With Glycogen Storage Disease on Standard Versus Modified Uncooked Cornstarch
NCT03970278	Not specified	COMPLETED	Study of Long-Term Safety and Efficacy on Gene Therapy in Glycogen Storage Disease Type Ia
NCT04708015	Not specified	COMPLETED	Retrospective Study of Glucose Monitoring for Glycemic Control in Patients With GSDIa
NCT04909346	Not specified	TERMINATED	Adeno-Associated Virus (AAV) Antibody Study in Subjects OTC Deficiency, GSDIa, and Wilson Disease

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
LACTIC ACID	4	1
PREDNISOLONE	4	1
D-LACTIC ACID	3	1
PARIGLASGENE BRECAPARVOVEC	1	2