Krabbe disease

Summary

Krabbe disease (MONDO:0009499) is a disease caused by GALC (GenCC Definitive), with 3 cohort genes and 18 clinical trials. Top therapeutic interventions include cyclophosphamide anhydrous, alemtuzumab, and busulfan.

At a glance

• Prevalence: 1-9 / 100 000 (Europe) [Orphanet-validated]
• Causal gene: GALC (GenCC Definitive)
• Cohort genes: 3
• ClinVar variants: 1,406
• Phenotypes (HPO): 50
• Clinical trials: 18

Clinical features

Epidemiology

Prevalence records

12 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Prevalence at birth	1-9 / 1 000 000	0.7	Worldwide	Validated
Point prevalence	1-9 / 100 000	1	Europe	Validated
Prevalence at birth	1-9 / 1 000 000	0.327	United States	Validated
Prevalence at birth	1-9 / 1 000 000	0.7	France	Validated
Prevalence at birth	1-9 / 1 000 000	0.71	Australia	Validated
Prevalence at birth	1-9 / 100 000	1.35	Netherlands	Validated
Prevalence at birth	1-9 / 100 000	1.21	Portugal	Validated
Prevalence at birth	1-9 / 1 000 000	0.6	Germany	Validated
Prevalence at birth	1-9 / 100 000	1	Turkey	Validated
Prevalence at birth	1-9 / 1 000 000	0.4	Czech Republic	Validated
Prevalence at birth	1-9 / 100 000	1.9	Sweden	Validated
Prevalence at birth	1-9 / 100 000	1	Europe	Not yet validated

Signs & symptoms

Clinical features (HPO)

50 HPO clinical features (Orphanet curated; top 50 by frequency):

HPO ID	Term	Frequency
HP:0000365	Hearing impairment	Very frequent (80-99%)
HP:0000407	Sensorineural hearing impairment	Very frequent (80-99%)
HP:0000505	Visual impairment	Very frequent (80-99%)
HP:0000708	Atypical behavior	Very frequent (80-99%)
HP:0000763	Sensory neuropathy	Very frequent (80-99%)
HP:0001172	Abnormal thumb morphology	Very frequent (80-99%)
HP:0001251	Ataxia	Very frequent (80-99%)
HP:0001257	Spasticity	Very frequent (80-99%)
HP:0001263	Global developmental delay	Very frequent (80-99%)
HP:0001939	Abnormality of metabolism/homeostasis	Very frequent (80-99%)
HP:0002676	Cloverleaf skull	Very frequent (80-99%)
HP:0003457	EMG abnormality	Very frequent (80-99%)
HP:0009830	Peripheral neuropathy	Very frequent (80-99%)
HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	Very frequent (80-99%)
HP:0011968	Feeding difficulties	Very frequent (80-99%)
HP:0034322	Reduced galactocerebrosidase activity	Very frequent (80-99%)
HP:0000737	Irritability	Frequent (30-79%)
HP:0001250	Seizure	Frequent (30-79%)
HP:0001288	Gait disturbance	Frequent (30-79%)
HP:0001508	Failure to thrive	Frequent (30-79%)
HP:0001945	Fever	Frequent (30-79%)
HP:0002013	Vomiting	Frequent (30-79%)
HP:0002123	Generalized myoclonic seizure	Frequent (30-79%)
HP:0002205	Recurrent respiratory infections	Frequent (30-79%)
HP:0002313	Spastic paraparesis	Frequent (30-79%)
HP:0002376	Developmental regression	Frequent (30-79%)
HP:0003134	Abnormality of peripheral nerve conduction	Frequent (30-79%)
HP:0004374	Hemiplegia/hemiparesis	Frequent (30-79%)
HP:0033031	Hyperpyrexia	Frequent (30-79%)
HP:0000020	Urinary incontinence	Occasional (5-29%)
HP:0000618	Blindness	Occasional (5-29%)
HP:0000648	Optic atrophy	Occasional (5-29%)
HP:0001188	Hand clenching	Occasional (5-29%)
HP:0001265	Hyporeflexia	Occasional (5-29%)
HP:0001324	Muscle weakness	Occasional (5-29%)
HP:0001336	Myoclonus	Occasional (5-29%)
HP:0001761	Pes cavus	Occasional (5-29%)
HP:0001824	Weight loss	Occasional (5-29%)
HP:0002179	Opisthotonus	Occasional (5-29%)
HP:0002312	Clumsiness	Occasional (5-29%)
HP:0002359	Frequent falls	Occasional (5-29%)
HP:0002421	Poor head control	Occasional (5-29%)
HP:0002445	Tetraplegia	Occasional (5-29%)
HP:0002878	Respiratory failure	Occasional (5-29%)
HP:0002922	Increased CSF protein concentration	Occasional (5-29%)
HP:0025013	Decerebrate rigidity	Occasional (5-29%)
HP:0030211	Slow pupillary light response	Occasional (5-29%)
HP:0100639	Erectile dysfunction	Occasional (5-29%)
HP:0100963	Hyperesthesia	Occasional (5-29%)
HP:0001288	Gait disturbance	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	Krabbe disease
Mondo ID	MONDO:0009499
MeSH	D007965
OMIM	245200
Orphanet	487
DOID	DOID:10587
ICD-10-CM	E75.23
ICD-11	796317173
NCIT	C61254
SNOMED CT	189979005, 192782005
UMLS	C0023521
MedGen	44131
GARD	0006844
MedDRA	10023492
NORD	1368
Is cancer (heuristic)	no

Also known as: diffuse globoid body sclerosis · galactocerebrosidase deficiency · galactosylceramidase deficiency · galactosylceramide lipidosis · GALC deficiency · GALC enzyme deficiency · GLD · globoid cell leukodystrophy · globoid cell leukoencephalopathy · Krabbe disease · Krabbe leukodystrophy · Krabbe’s leukodystrophy · later onset Krabbe disease · later-onset Krabbe disease · Leukodystrophy, Krabbe’s

Data availability: 1,406 ClinVar variants · 6 GenCC gene-disease records · 15 cell lines.

Disease family

An umbrella term covering 3 Mondo subtypes.

Classification path: disease › human disease › disease by body system or component › disorder of orbital region › eye disorder › eye degenerative disorder › Krabbe disease

Related subtypes (8): blind hypertensive eye, vitreous syneresis, degenerative myopia, choroidal sclerosis, muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome, corneal-cerebellar syndrome, multiple mitochondrial dysfunctions syndrome 4, tremor-ataxia-central hypomyelination syndrome

Subtypes (3): infantile Krabbe disease, late-infantile/juvenile Krabbe disease, adult Krabbe disease

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

600 retrieved; paginated sample, class counts are floors:

271 likely benign, 120 uncertain significance, 77 pathogenic, 49 likely pathogenic, 31 conflicting classifications of pathogenicity, 29 pathogenic/likely pathogenic, 22 benign, 1 benign/likely benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
1058786	NM_000153.4(GALC):c.821A>C (p.Glu274Ala)	GALC	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1066093	NM_000153.4(GALC):c.1987del (p.Trp663fs)	GALC	Pathogenic	criteria provided, single submitter
1066196	NM_000153.4(GALC):c.349A>C (p.Met117Leu)	GALC	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1066870	NM_000153.4(GALC):c.2056T>C (p.Ter686Gln)	GALC	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1070140	NC_000014.8:g.(?_88391504)_88423173del	GALC	Pathogenic	criteria provided, single submitter
1070141	NC_000014.8:g.(?_88391504)_88423174del	GALC	Pathogenic	criteria provided, single submitter
1070539	NM_000153.4(GALC):c.181_182insAG (p.Val61fs)	GALC	Pathogenic	criteria provided, single submitter
1070765	NM_000153.4(GALC):c.432_433dup (p.Thr145fs)	GALC	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1070766	NM_000153.4(GALC):c.302_308dup (p.Gly104fs)	GALC	Pathogenic	criteria provided, single submitter
1070767	NM_000153.4(GALC):c.176del (p.Gly59fs)	GALC	Pathogenic	criteria provided, multiple submitters, no conflicts
1071897	NM_000153.4(GALC):c.1884del (p.Lys628fs)	GALC	Pathogenic	criteria provided, multiple submitters, no conflicts
1071955	NM_000153.4(GALC):c.1762_1763del (p.Leu588fs)	GALC	Pathogenic	criteria provided, single submitter
1072645	NM_000153.4(GALC):c.37C>T (p.Arg13Ter)	GALC	Pathogenic	criteria provided, single submitter
1073890	NM_000153.4(GALC):c.498del (p.Asn167fs)	GALC	Pathogenic	criteria provided, multiple submitters, no conflicts
1073951	NC_000014.8:g.(?_88391503)_88423172del	GALC	Pathogenic	criteria provided, single submitter
1074198	NM_000153.4(GALC):c.1411_1432del (p.Thr471fs)	GALC	Pathogenic	criteria provided, single submitter
1074616	NM_000153.4(GALC):c.332del (p.Gly111fs)	GALC	Pathogenic	criteria provided, single submitter
1210861	NM_000153.4(GALC):c.1858G>A (p.Gly620Arg)	GALC	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1298354	NM_000153.4(GALC):c.1964del (p.Pro655fs)	GALC	Pathogenic	criteria provided, single submitter
1299228	NM_000153.4(GALC):c.1821dup (p.Thr608fs)	GALC	Pathogenic	criteria provided, single submitter
1299585	NM_000153.4(GALC):c.396G>A (p.Trp132Ter)	GALC	Pathogenic	criteria provided, multiple submitters, no conflicts
1320177	NM_000153.4(GALC):c.688_694del (p.Trp230fs)	GALC	Pathogenic	criteria provided, single submitter
1322976	NM_000153.4(GALC):c.1736_1739del (p.Ala579fs)	GALC	Pathogenic	criteria provided, multiple submitters, no conflicts
1322977	NM_000153.4(GALC):c.622-1G>T	GALC	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1331457	NM_000153.4(GALC):c.683_694delinsCTC (p.Asn228_Ser232delinsThrPro)	GALC	Pathogenic	criteria provided, multiple submitters, no conflicts
1332732	NM_000153.4(GALC):c.1252-1G>C	GALC	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1364954	NM_000153.4(GALC):c.1815dup (p.Arg606fs)	GALC	Pathogenic	criteria provided, single submitter
1374650	NM_000153.4(GALC):c.967G>T (p.Gly323Trp)	GALC	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1378825	NM_000153.4(GALC):c.1648dup (p.Ser550fs)	GALC	Pathogenic	criteria provided, single submitter
1385679	NM_000153.4(GALC):c.782_783dup (p.Asp262fs)	GALC	Pathogenic	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 6 · Orphanet: 9 · 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
GALC	Definitive	Autosomal recessive	Krabbe disease	6

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
GALC	Orphanet:206436	Infantile Krabbe disease
GALC	Orphanet:206443	Late-infantile/juvenile Krabbe disease
GALC	Orphanet:206448	Adult Krabbe disease
PSAP	Orphanet:139406	Encephalopathy due to prosaposin deficiency
PSAP	Orphanet:206436	Infantile Krabbe disease
PSAP	Orphanet:309252	Atypical Gaucher disease due to saposin C deficiency
PSAP	Orphanet:309256	Metachromatic leukodystrophy, late infantile form
PSAP	Orphanet:309263	Metachromatic leukodystrophy, juvenile form
PSAP	Orphanet:309271	Metachromatic leukodystrophy, adult form

Cohort genes → proteins

3 cohort genes, 3 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	3

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
GALC	HGNC:4115	ENSG00000054983	P54803	Galactocerebrosidase	gencc,clinvar
MTCH1	HGNC:17586	ENSG00000137409	Q9NZJ7	Mitochondrial carrier homolog 1	clinvar
PSAP	HGNC:9498	ENSG00000197746	P07602	Prosaposin	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
GALC	Galactocerebrosidase	Hydrolyzes the galactose ester bonds of glycolipids such as galactosylceramide and galactosylsphingosine.
MTCH1	Mitochondrial carrier homolog 1	Protein insertase that mediates insertion of transmembrane proteins into the mitochondrial outer membrane.
PSAP	Prosaposin	Saposin-A and saposin-C stimulate the hydrolysis of glucosylceramide by beta-glucosylceramidase (EC 3.2.1.45) and galactosylceramide by beta-galactosylceramidase (EC 3.2.1.46).

Protein-family classification

Druggable: 1 · Difficult: 0 · Unknown: 2 · Druggable fraction: 0.33

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)	1	4.0×	0.460
Other/Unknown	2	1.2×	0.587

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
GALC	Enzyme (other)	yes	3.2.1.46	Glyco_hydro_59, Aldolase_TIM, GH_hydrolase_sf
MTCH1	Other/Unknown	no		MCP_transmembrane, MCP_dom_sf
PSAP	Other/Unknown	no		SAP_A, SapB_1, SapB_2

Expression context

Cohort genes with no expression data: 0.

3 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)	3
unknown	0

Top tissues across cohort

Tissue	Cohort genes
adrenal tissue	1
bronchial epithelial cell	1
jejunal mucosa	1
Brodmann (1909) area 23	1
endothelial cell	1
middle temporal gyrus	1
leukocyte	1
monocyte	1
mononuclear cell	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
GALC	295	ubiquitous	marker	adrenal tissue, bronchial epithelial cell, jejunal mucosa
MTCH1	288	ubiquitous	marker	endothelial cell, Brodmann (1909) area 23, middle temporal gyrus
PSAP	295	ubiquitous	marker	monocyte, mononuclear cell, leukocyte

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
MTCH1	1,570
GALC	1,154
PSAP	217

Structural data

PDB: 1 · AlphaFold-only: 2 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
PSAP	P07602	20

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
GALC	P54803	94.56
MTCH1	Q9NZJ7	76.29

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 19. Enrichment computed across 3 evidence-associated genes (2 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 2 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Glycosphingolipid catabolism	2	292.8×	2e-04	GALC, PSAP
Glycosphingolipid metabolism	1	150.3×	0.058	PSAP
Sphingolipid metabolism	1	84.0×	0.058	PSAP
Response to elevated platelet cytosolic Ca2+	1	81.6×	0.058	PSAP
Platelet activation, signaling and aggregation	1	52.9×	0.064	PSAP
Platelet degranulation	1	43.9×	0.064	PSAP
Class A/1 (Rhodopsin-like receptors)	1	37.1×	0.064	PSAP
Peptide ligand-binding receptors	1	37.1×	0.064	PSAP
GPCR ligand binding	1	32.1×	0.065	PSAP
GPCR downstream signalling	1	21.7×	0.080	PSAP
Signaling by GPCR	1	20.0×	0.080	PSAP
G alpha (i) signalling events	1	19.5×	0.080	PSAP
Hemostasis	1	18.0×	0.080	PSAP
Metabolism of lipids	1	15.8×	0.085	PSAP
Innate Immune System	1	12.8×	0.097	PSAP
Neutrophil degranulation	1	11.5×	0.101	PSAP
Immune System	1	6.5×	0.166	PSAP
Metabolism	1	5.8×	0.174	PSAP
Signal Transduction	1	5.1×	0.187	PSAP

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 3 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
ganglioside GM1 transport to membrane	1	5617.3×	0.003	PSAP
galactosylceramide catabolic process	1	2808.7×	0.003	GALC
neuronal ion channel clustering	1	1872.4×	0.003	MTCH1
epithelial cell differentiation involved in prostate gland development	1	1123.5×	0.004	PSAP
prostate gland growth	1	702.2×	0.005	PSAP
glycosphingolipid catabolic process	1	510.7×	0.006	GALC
protein insertion into mitochondrial outer membrane	1	432.1×	0.006	MTCH1
sphingolipid metabolic process	1	330.4×	0.006	PSAP
lysosomal transport	1	234.1×	0.008	PSAP
regulation of lipid metabolic process	1	144.0×	0.012	PSAP
regulation of signal transduction	1	89.2×	0.016	MTCH1
myelination	1	83.8×	0.016	GALC
regulation of autophagy	1	80.2×	0.016	PSAP
adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	1	73.0×	0.017	PSAP
gene expression	1	26.6×	0.042	PSAP
positive regulation of apoptotic process	1	18.9×	0.055	MTCH1
apoptotic process	1	9.6×	0.101	MTCH1

Therapeutics

Drugs indicated for this disease

No approved or late-stage (phase ≥3) drug is indicated for this disease; the following are in earlier-phase trials only.

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Busulfan.

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 1 · Phased (≥1): 1 · Undrugged: 2

Druggability breadth: 2 of 3 evidence-associated genes (67%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
PSAP	1	3
GALC	0	0
MTCH1	0	0

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
FENRETINIDE	3	PSAP

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 1.

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

Symbol	Assays	Type breakdown
PSAP	12	Binding:8, ADMET:4
GALC	3	Binding:2, Functional:1

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
GALC	3.2.1.46	galactosylceramidase

Pharmacogenomics

Cohort genes with a PharmGKB record: 3; with CPIC/DPWG dosing guidelines: 0.

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

Chemical tractability of cohort targets

1 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)
FENRETINIDE	3	PSAP

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
B	Phased (≥1) drug, not yet approved	1	PSAP
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	1	GALC
E	Difficult family or no structure, no drug	1	MTCH1

Undrugged target profiles

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

Symbol	ChEMBL assays	Drugged partners (top 3)
GALC	3	—
MTCH1	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 18.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	10
PHASE2	4
PHASE1/PHASE2	3
PHASE2/PHASE3	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT00176904	PHASE2/PHASE3	COMPLETED	Stem Cell Transplant for Inborn Errors of Metabolism
NCT02171104	PHASE2	ACTIVE_NOT_RECRUITING	MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis
NCT04693598	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Gene Transfer Clinical Trial for Krabbe Disease
NCT05739643	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Gene Transfer Clinical Trial for Infantile and Late Infantile Krabbe Disease Treated Previously With HSCT
NCT00383448	PHASE2	COMPLETED	HSCT for High Risk Inherited Inborn Errors
NCT00668564	PHASE2	TERMINATED	Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism
NCT01043640	PHASE2	COMPLETED	Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders
NCT01372228	PHASE1/PHASE2	TERMINATED	Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders
NCT00787865	Not specified	ACTIVE_NOT_RECRUITING	Diffusion Tensor Imaging (DTI) in Infants With Krabbe Disease
NCT02993796	Not specified	RECRUITING	Krabbe Disease Global Patient Registry
NCT03047369	Not specified	RECRUITING	The Myelin Disorders Biorepository Project
NCT03333200	Not specified	RECRUITING	Longitudinal Study of Neurodegenerative Disorders
NCT03655223	Not specified	ENROLLING_BY_INVITATION	Early Check: Expanded Screening in Newborns
NCT00005900	Not specified	UNKNOWN	Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation
NCT01425489	Not specified	WITHDRAWN	Biomarker for Krabbe Disease (BioKrabbe)
NCT01938014	Not specified	COMPLETED	Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children
NCT02699190	Not specified	COMPLETED	LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies
NCT06308718	Not specified	TERMINATED	Long-term Follow-up Study to Evaluate Safety and Efficacy of FBX-101 in Krabbe Patients

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
CYCLOPHOSPHAMIDE ANHYDROUS	4	3
ALEMTUZUMAB	4	1
BUSULFAN	4	1
CLOFARABINE	4	1
HYDROXYUREA	4	1