FAM50A

Summary

FAM50A (family with sequence similarity 50 member A, HGNC:18786) is a protein-coding gene on chromosome Xq28, encoding Protein FAM50A (Q14320). Probably involved in the regulation of pre-mRNA splicing. It is a selective cancer dependency (DepMap: 49.3% of cell lines).

This gene belongs to the FAM50 family. The encoded protein is highly conserved in length and sequence across different species. It is a basic protein containing a nuclear localization signal, and may function as a DNA-binding protein or a transcriptional factor.

Source: NCBI Gene 9130 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Armfield syndrome (Strong, GenCC)
• Clinical variants (ClinVar): 130 total — 4 likely-pathogenic
• Phenotypes (HPO): 15
• Cancer dependency (DepMap): dependent in 49.3% of screened cell lines
• MANE Select transcript: NM_004699

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18786
Approved symbol	FAM50A
Name	family with sequence similarity 50 member A
Location	Xq28
Locus type	gene with protein product
Status	Approved
Aliases	DXS9928E, XAP5, HXC-26, 9F
Ensembl gene	ENSG00000071859
Ensembl biotype	protein_coding
OMIM	300453
Entrez	9130

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 10 protein_coding, 5 retained_intron

ENST00000158526, ENST00000393600, ENST00000464419, ENST00000478509, ENST00000481619, ENST00000490480, ENST00000494278, ENST00000854482, ENST00000854483, ENST00000854484, ENST00000854485, ENST00000920316, ENST00000920317, ENST00000944939, ENST00000944940

RefSeq mRNA: 1 — MANE Select: NM_004699 NM_004699

CCDS: CCDS14751

Canonical transcript exons

ENST00000393600 — 13 exons

Exon	Start	End
ENSE00000678496	154449681	154449735
ENSE00000678501	154449883	154449931
ENSE00001951259	154444141	154444346
ENSE00003480769	154450424	154450654
ENSE00003508146	154450209	154450319
ENSE00003518728	154448690	154448756
ENSE00003529974	154449221	154449297
ENSE00003627480	154448484	154448560
ENSE00003649100	154446415	154446560
ENSE00003663197	154445812	154445911
ENSE00003666604	154445633	154445717
ENSE00003687691	154448893	154448954
ENSE00003786634	154450029	154450099

Expression profiles

Bgee: expression breadth ubiquitous, 283 present calls, max score 98.69.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 57.9445 / max 253.9891, expressed in 1823 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
198186	53.6351	1822
198187	4.3094	1463

Top tissues by expression

292 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
sural nerve	UBERON:0015488	98.69	gold quality
adenohypophysis	UBERON:0002196	98.04	gold quality
stromal cell of endometrium	CL:0002255	97.90	gold quality
pituitary gland	UBERON:0000007	97.38	gold quality
tendon of biceps brachii	UBERON:0008188	97.32	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	97.22	gold quality
right lobe of thyroid gland	UBERON:0001119	97.21	gold quality
left lobe of thyroid gland	UBERON:0001120	97.15	gold quality
apex of heart	UBERON:0002098	97.14	gold quality
right hemisphere of cerebellum	UBERON:0014890	97.13	gold quality
lower esophagus muscularis layer	UBERON:0035833	97.12	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	97.12	gold quality
lower esophagus	UBERON:0013473	97.11	gold quality
muscle layer of sigmoid colon	UBERON:0035805	97.09	gold quality
cerebellar hemisphere	UBERON:0002245	97.04	gold quality
left coronary artery	UBERON:0001626	97.02	gold quality
mucosa of stomach	UBERON:0001199	96.97	gold quality
cerebellar cortex	UBERON:0002129	96.96	gold quality
ascending aorta	UBERON:0001496	96.93	gold quality
thoracic aorta	UBERON:0001515	96.89	gold quality
left adrenal gland cortex	UBERON:0035825	96.75	gold quality
granulocyte	CL:0000094	96.71	gold quality
coronary artery	UBERON:0001621	96.71	gold quality
tibial nerve	UBERON:0001323	96.66	gold quality
omental fat pad	UBERON:0010414	96.66	gold quality
upper lobe of left lung	UBERON:0008952	96.62	gold quality
peritoneum	UBERON:0002358	96.61	gold quality
right adrenal gland	UBERON:0001233	96.60	gold quality
aorta	UBERON:0000947	96.57	gold quality
left adrenal gland	UBERON:0001234	96.57	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.91
E-MTAB-6524	no	104.24

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

8 targeting FAM50A, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-6124	99.87	69.78	3551
HSA-MIR-1207-5P	99.49	69.11	2983
HSA-MIR-6722-3P	99.45	67.62	1919
HSA-MIR-6507-5P	99.36	70.46	2524
HSA-MIR-4763-3P	99.10	67.83	2649
HSA-MIR-1909-3P	99.03	66.56	1662
HSA-MIR-4274	98.59	66.10	630

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 49.3% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 3)

• Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy. (PMID:32703943)
• Proto-Oncogene FAM50A Can Regulate the Immune Microenvironment and Development of Hepatocellular Carcinoma In Vitro and In Vivo. (PMID:36834630)
• Upregulation of FAM50A promotes cancer development. (PMID:37393403)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	fam50a	ENSDARG00000024895
mus_musculus	Fam50a	ENSMUSG00000001962
rattus_norvegicus	Fam50a	ENSRNOG00000058439
drosophila_melanogaster	CG12259	FBGN0039557
caenorhabditis_elegans		WBGENE00008143

Paralogs (1): FAM50B (ENSG00000145945)

Protein

Protein identifiers

Protein FAM50A — Q14320 (reviewed: Q14320)

Alternative names: Protein HXC-26, Protein XAP-5

All UniProt accessions (2): Q14320, B0S8I6

UniProt curated annotations — full annotation on UniProt →

Function. Probably involved in the regulation of pre-mRNA splicing.

Subunit / interactions. Interacts with EFTUD2, a component of the spliceosome U5 complex. Interacts with DDX41, a component of the spliceosome C complex.

Subcellular location. Nucleus.

Tissue specificity. Widely expressed in fetal and adult tissues. Mostly abundant in fetal brain, liver and kidney; in the adult, high levels were also observed in heart, skeletal muscle, spleen, thymus, prostate and small intestine. Expressed in fetal cerebellum and hypothalamus. Low expression is observed in fetal temporal lobe.

Disease relevance. Intellectual developmental disorder, X-linked, syndromic, Armfield type (MRXSA) [MIM:300261] An X-linked recessive disorder characterized by global developmental delay with impaired intellectual development, walking difficulties and poor or absent speech. Affected individuals display a distinctive phenotype characterized by postnatal growth retardation, variable head circumference with a prominent forehead and dysmorphic facial features, ocular abnormalities, and seizures. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the FAM50 family.

RefSeq proteins (1): NP_004690* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007005	XAP5	Family
IPR048337	FAM50A/XAP5_C	Domain

Pfam: PF04921

UniProt features (18 total): sequence variant 7, sequence conflict 2, region of interest 2, compositionally biased region 2, initiator methionine 1, chain 1, short sequence motif 1, modified residue 1, cross-link 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
8C6J	ELECTRON MICROSCOPY	2.8
9FMD	ELECTRON MICROSCOPY	3.3

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q14320-F1	76.31	0.28

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (2): 2, 100

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-72163	mRNA Splicing - Major Pathway

MSigDB gene sets: 156 (showing top): ENK_UV_RESPONSE_KERATINOCYTE_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOBP_MALE_GAMETE_GENERATION, CAGCTG_AP4_Q5, IRF7_01, BLALOCK_ALZHEIMERS_DISEASE_UP, REACTOME_PROCESSING_OF_CAPPED_INTRON_CONTAINING_PRE_MRNA, E4F1_Q6, GOBP_RNA_SPLICING, OCT1_07, PYEON_CANCER_HEAD_AND_NECK_VS_CERVICAL_UP, LIAO_METASTASIS, ONDER_CDH1_TARGETS_2_UP, REACTOME_MRNA_SPLICING

GO Biological Process (5): chromatin organization (GO:0006325), mRNA processing (GO:0006397), spermatogenesis (GO:0007283), RNA splicing (GO:0008380), regulation of RNA splicing (GO:0043484)

GO Molecular Function (2): RNA binding (GO:0003723), protein binding (GO:0005515)

GO Cellular Component (2): nucleus (GO:0005634), nucleoplasm (GO:0005654)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
mRNA Splicing	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA processing	2
cellular component organization	1
mRNA metabolic process	1
developmental process involved in reproduction	1
male gamete generation	1
RNA splicing	1
regulation of gene expression	1
regulation of primary metabolic process	1
nucleic acid binding	1
binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cellular anatomical structure	1

Protein interactions and networks

STRING

672 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FAM50A	RPP25L	Q8N5L8	532
FAM50A	RPP25	Q9BUL9	431
FAM50A	THOC2	Q8NI27	387
FAM50A	BRMS1	Q9HCU9	382
FAM50A	CNOT2	Q9NZN8	380
FAM50A	FAM50B	Q9Y247	363
FAM50A	EPRS1	P07814	350
FAM50A	MARS1	P56192	337
FAM50A	RPF2	Q9H7B2	333
FAM50A	DHX34	Q14147	323
FAM50A	UAP1L1	Q3KQV9	319
FAM50A	MRAP2	Q96G30	318
FAM50A	LIMS3	P0CW19	312
FAM50A	EFTUD2	Q15029	310
FAM50A	SF3B4	Q15427	309

IntAct

32 interactions, top by confidence:

A	B	Type	Score
MED4	MED19	psi-mi:“MI:0914”(association)	0.900
MED20	MED19	psi-mi:“MI:0914”(association)	0.840
PRPF19	PLRG1	psi-mi:“MI:0914”(association)	0.770
IFNA13	IFNA14	psi-mi:“MI:0914”(association)	0.530
DDX21	MED19	psi-mi:“MI:2364”(proximity)	0.480
	FAM50A	psi-mi:“MI:0407”(direct interaction)	0.440
H3C1	SMCHD1	psi-mi:“MI:2364”(proximity)	0.410
FAM50A	DNTTIP2	psi-mi:“MI:0915”(physical association)	0.400
Snw1	AKR7A2	psi-mi:“MI:0914”(association)	0.350
LRRK2		psi-mi:“MI:0914”(association)	0.350
ARPC2		psi-mi:“MI:0914”(association)	0.350
C9orf78	SNRNP200	psi-mi:“MI:0914”(association)	0.350
CAPZB	ENAH	psi-mi:“MI:0914”(association)	0.350
EIF5	EIF3CL	psi-mi:“MI:0914”(association)	0.350
FAM50A	SNRNP200	psi-mi:“MI:0914”(association)	0.350
MBNL1	SAP30	psi-mi:“MI:0914”(association)	0.350
RNF40	HNRNPR	psi-mi:“MI:0914”(association)	0.350
SPG21	VAMP7	psi-mi:“MI:0914”(association)	0.350
USP22	ARPC2	psi-mi:“MI:0914”(association)	0.350
FAM50A	C10orf62	psi-mi:“MI:0914”(association)	0.350
ZBTB2	SHTN1	psi-mi:“MI:0914”(association)	0.350
ATP5PB	SH3PXD2B	psi-mi:“MI:0914”(association)	0.350
MRPL38	METTL15	psi-mi:“MI:0914”(association)	0.350
CABCOCO1	NARS1	psi-mi:“MI:0914”(association)	0.350
MEIS2	LRPAP1	psi-mi:“MI:0914”(association)	0.350
SLC35F4	SHTN1	psi-mi:“MI:0914”(association)	0.350
GPKOW	ESYT2	psi-mi:“MI:2364”(proximity)	0.270
SUPV3L1	BLTP3B	psi-mi:“MI:2364”(proximity)	0.270
NPM1	SBNO1	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (132): FAM50A (Affinity Capture-RNA), FAM50A (Affinity Capture-RNA), FAM50A (Co-fractionation), FAM50A (Affinity Capture-MS), FAM50A (Affinity Capture-MS), FAM50A (Proximity Label-MS), FAM50A (Affinity Capture-MS), FAM50A (Affinity Capture-MS), FAM50A (Positive Genetic), FAM50A (Negative Genetic), FAM50A (Positive Genetic), FAM50A (Positive Genetic), FAM50A (Negative Genetic), FAM50A (Negative Genetic), FAM50A (Positive Genetic)

ESM2 similar proteins: A6ZVE9, A8WXX7, A9UL78, B3LTX4, B5VKI1, B8BDW1, C7GWJ7, O16207, O74517, O80653, O94693, P28004, P40470, P53277, P53317, Q09882, Q10580, Q14320, Q16U25, Q18691, Q21278, Q28BK4, Q28IC1, Q299F9, Q2VPH1, Q3UHX2, Q4KLV7, Q4R846, Q568K9, Q5F1R6, Q62785, Q69JZ7, Q6CLA4, Q6CLJ7, Q6FIT9, Q6FSQ0, Q7LKZ5, Q7PYQ5, Q8GWI5, Q8H110

Diamond homologs: A8WXX7, B8BDW1, Q14320, Q16U25, Q18691, Q28BK4, Q299F9, Q2VPH1, Q4KLV7, Q4R846, Q54S94, Q568K9, Q69JZ7, Q7LKZ5, Q7PYQ5, Q8H110, Q9VAY7, Q9WTJ8, Q9WV03, Q9Y247

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 47 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
mRNA Splicing - Major Pathway	6	10.2×	4e-03
Dengue Virus-Host Interactions	6	8.6×	5e-03

GO biological processes:

GO term	Partners	Fold	FDR
mRNA splicing, via spliceosome	6	12.8×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

130 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	4
Uncertain significance	47
Likely benign	14
Benign	1

Top pathogenic / likely-pathogenic (4)

Variant ID	HGVS	Classification
2404128	NM_004699.4(FAM50A):c.760G>A (p.Glu254Lys)	Likely pathogenic
872936	NM_004699.4(FAM50A):c.764A>G (p.Asp255Gly)	Likely pathogenic
872937	NM_004699.4(FAM50A):c.763G>A (p.Asp255Asn)	Likely pathogenic
872938	NM_004699.4(FAM50A):c.761A>G (p.Glu254Gly)	Likely pathogenic

SpliceAI

1940 predictions. Top by Δscore:

Variant	Effect	Δscore
X:154444344:G:GT	donor_gain	1.0000
X:154445628:CGCAG:C	acceptor_loss	1.0000
X:154445629:GCAGG:G	acceptor_loss	1.0000
X:154445630:CA:C	acceptor_loss	1.0000
X:154445631:A:AG	acceptor_gain	1.0000
X:154445631:AG:A	acceptor_gain	1.0000
X:154445632:G:GA	acceptor_gain	1.0000
X:154445632:GG:G	acceptor_gain	1.0000
X:154445632:GGA:G	acceptor_gain	1.0000
X:154445632:GGAGA:G	acceptor_gain	1.0000
X:154445709:GCACC:G	donor_gain	1.0000
X:154445713:CGTGG:C	donor_loss	1.0000
X:154445714:GTGG:G	donor_gain	1.0000
X:154445716:GG:G	donor_gain	1.0000
X:154445717:GG:G	donor_gain	1.0000
X:154445718:G:GG	donor_gain	1.0000
X:154445718:GTGA:G	donor_loss	1.0000
X:154445807:CAAA:C	acceptor_loss	1.0000
X:154445810:A:AC	acceptor_loss	1.0000
X:154445885:G:GT	donor_gain	1.0000
X:154445901:G:GT	donor_gain	1.0000
X:154445912:G:GG	donor_gain	1.0000
X:154445941:G:GT	donor_gain	1.0000
X:154445944:GCTA:G	donor_gain	1.0000
X:154445945:C:G	donor_gain	1.0000
X:154445948:G:GG	donor_gain	1.0000
X:154446405:A:AG	acceptor_gain	1.0000
X:154446406:C:G	acceptor_gain	1.0000
X:154446412:TA:T	acceptor_loss	1.0000
X:154446413:A:AG	acceptor_gain	1.0000

AlphaMissense

2286 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:154444245:T:C	Y4H	1.000
X:154444251:G:C	G6R	1.000
X:154444251:G:T	G6C	1.000
X:154444252:G:A	G6D	1.000
X:154444272:C:A	R13S	1.000
X:154444272:C:T	R13C	1.000
X:154444276:C:A	A14D	1.000
X:154444285:T:C	L17P	1.000
X:154444297:G:C	R21P	1.000
X:154445666:T:A	F49I	1.000
X:154445666:T:C	F49L	1.000
X:154445666:T:G	F49V	1.000
X:154445667:T:C	F49S	1.000
X:154445667:T:G	F49C	1.000
X:154445668:C:A	F49L	1.000
X:154445668:C:G	F49L	1.000
X:154445684:G:C	A55P	1.000
X:154445693:G:C	A58P	1.000
X:154445700:T:A	L60H	1.000
X:154445700:T:C	L60P	1.000
X:154445717:G:C	G66R	1.000
X:154445717:G:T	G66C	1.000
X:154445812:G:A	G66D	1.000
X:154445815:T:A	L67H	1.000
X:154445815:T:C	L67P	1.000
X:154445824:T:C	L70P	1.000
X:154445833:T:C	M73T	1.000
X:154445834:G:A	M73I	1.000
X:154445834:G:C	M73I	1.000
X:154445834:G:T	M73I	1.000

dbSNP variants (sampled 300 via entrez): RS1000080652 (X:154445971 G>A,T), RS1000267906 (X:154446267 G>A), RS1001543955 (X:154444648 C>A,G), RS1002151814 (X:154443837 T>G), RS1003344448 (X:154450494 C>T), RS1003618092 (X:154449879 C>G), RS1004059788 (X:154442946 A>G), RS1005096951 (X:154444963 C>T), RS1005476007 (X:154444671 C>T), RS1006319925 (X:154448640 G>A), RS1006600232 (X:154445524 A>G), RS1006980032 (X:154445080 C>T), RS1008024962 (X:154447108 G>A), RS1008053761 (X:154443720 C>G,T), RS1008215310 (X:154451058 G>A)

Disease associations

OMIM: gene MIM:300453 | disease phenotypes: MIM:300261, MIM:300100

GenCC curated gene-disease

Disease	Classification	Inheritance
Armfield syndrome	Strong	X-linked

Mondo (3): Armfield syndrome (MONDO:0010284), adrenoleukodystrophy (MONDO:0018544), intellectual disability (MONDO:0001071)

Orphanet (3): X-linked intellectual disability, Armfield type (Orphanet:85276), X-linked adrenoleukodystrophy (Orphanet:43), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

15 total (15 of 15 shown, HPO-id order):

HPO	Term
HP:0000175	Cleft palate
HP:0000272	Malar flattening
HP:0000486	Strabismus
HP:0000501	Glaucoma
HP:0000518	Cataract
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001417	X-linked inheritance
HP:0001419	X-linked recessive inheritance
HP:0001773	Short foot
HP:0004322	Short stature
HP:0005922	Abnormal hand morphology
HP:0011220	Prominent forehead
HP:0011800	Midface retrusion
HP:0200055	Small hand

GWAS associations

0 associations (top):

MeSH disease descriptors (3)

Descriptor	Name	Tree numbers
D000326	Adrenoleukodystrophy	C10.228.140.163.100.084; C10.228.140.163.100.362.250; C10.228.140.695.625.250; C10.314.400.250; C10.597.606.360.455.124; C16.320.322.500.124; C16.320.400.525.124; C16.320.565.189.084; C16.320.565.189.362.250; C16.320.565.663.100; C18.452.132.100.084; C18.452.132.100.362.250; C18.452.648.189.084; C18.452.648.189.362.250; C18.452.648.663.100; C19.053.500.270
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
C564551	Armfield X-Linked Mental Retardation Syndrome (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

34 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, increases expression	4
Valproic Acid	affects cotreatment, increases expression, increases methylation	3
Cyclosporine	increases expression	3
TAK-243	increases sumoylation	1
triphenyl phosphate	affects expression	1
bisphenol A	affects expression	1
quercitrin	increases expression	1
sodium arsenite	increases expression	1
potassium chromate(VI)	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
2-palmitoylglycerol	increases expression	1
K 7174	increases expression	1
ICG 001	increases expression	1
abrine	increases expression	1
bromovanin	decreases expression	1
Sunitinib	increases expression	1
Acetaminophen	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Doxorubicin	increases expression	1
Ethyl Methanesulfonate	increases expression	1
Formaldehyde	increases expression	1
Hydralazine	affects cotreatment, increases expression	1
Ivermectin	decreases expression	1
Manganese	decreases expression	1
Methyl Methanesulfonate	increases expression	1
Quercetin	increases expression	1
Ribonucleotides	affects binding	1
Selenium	increases expression	1
Smoke	decreases expression	1
Tetrachlorodibenzodioxin	increases expression	1

Clinical trials (associated diseases)

245 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT05003648	PHASE4	ACTIVE_NOT_RECRUITING	Treating Leg Symptoms in Women With X-linked Adrenoleukodystrophy
NCT05657860	PHASE4	COMPLETED	Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome
NCT05744479	PHASE4	RECRUITING	Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability
NCT06107829	PHASE4	WITHDRAWN	Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities
NCT06997198	PHASE4	NOT_YET_RECRUITING	Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities
NCT00007020	PHASE3	COMPLETED	Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic Acid
NCT00545597	PHASE3	TERMINATED	A Phase III Trial of Lorenzo’s Oil in Adrenomyeloneuropathy
NCT02270736	PHASE3	COMPLETED	Clinical Study to Investigate the Efficacy and Safety of NT 201 Compared to Placebo in the Treatment of Chronic Troublesome Drooling Associated With Neurological Disorders and/or Intellectual Disability
NCT00004418	PHASE2	TERMINATED	Effect of Glycerol Trierucate on Clinical Course of Adrenoleukodystrophy
NCT00383448	PHASE2	COMPLETED	HSCT for High Risk Inherited Inborn Errors
NCT01043640	PHASE2	COMPLETED	Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders
NCT03864523	PHASE2	COMPLETED	Effect of Pioglitazone Administered to Patients With Adrenomyeloneuropathy
NCT05200104	PHASE2	WITHDRAWN	Study to Assess PXL065 in Subjects With Adrenomyeloneuropathy (AMN) Form of X-linked Adrenoleukodystrophy (X-ALD or ALD)
NCT02304302	PHASE2	COMPLETED	Down Syndrome Memantine Follow-up Study
NCT03862950	PHASE2	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome (Met)
NCT04529226	PHASE2	UNKNOWN	Study to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis
NCT04821856	PHASE2	COMPLETED	Evaluation of the Effectiveness of Cannabidiol in Treating Severe Behavioural Problems in Children and Adolescents With Intellectual Disability
NCT01586455	PHASE1	COMPLETED	Human Placental-Derived Stem Cell Transplantation
NCT01787578	PHASE1	WITHDRAWN	Safety and Pharmacodynamic Study of Sobetirome in X-Linked Adrenoleukodystrophy (X-ALD)
NCT02254863	PHASE1	RECRUITING	UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells
NCT02595489	PHASE1	COMPLETED	A Pilot Study of Vitamin D in Boys With X-linked Adrenoleukodystrophy
NCT05273320	PHASE1	COMPLETED	Clinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities
NCT05301361	PHASE1	ENROLLING_BY_INVITATION	Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities
NCT06016764	PHASE1	COMPLETED	Use of MRI and cTBS for Catatonia in Autism
NCT06586827	PHASE1	COMPLETED	Impact of Competency-Based Training and Technical Assistance Employment Outcomes of Individuals With ID/DD
NCT07531940	PHASE1	NOT_YET_RECRUITING	Escalating Doses of Memantine in Down Syndrome (MEDS-123)
NCT00176904	PHASE2/PHASE3	COMPLETED	Stem Cell Transplant for Inborn Errors of Metabolism
NCT02961803	PHASE2/PHASE3	COMPLETED	MD1003-AMN MD1003 in Adrenomyeloneuropathy
NCT03231878	PHASE2/PHASE3	COMPLETED	A Clinical Study to Evaluate the Efficacy and Safety of MIN-102 (IMP) in Male AMN Patients.
NCT04303416	PHASE2/PHASE3	COMPLETED	Plasma Exchange With Albumin in AMN Patients
NCT01372228	PHASE1/PHASE2	TERMINATED	Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders
NCT02559830	PHASE1/PHASE2	UNKNOWN	Autologous Hematopoietic Stem Cell Gene Therapy for Metachromatic Leukodystrophy and Adrenoleukodystrophy
NCT03196765	PHASE1/PHASE2	WITHDRAWN	Safety, Pharmacokinetics and Pharmacodynamics of NV1205 in Pediatric Male Subjects With Adrenoleukodystrophy
NCT03513328	PHASE1/PHASE2	COMPLETED	Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation
NCT05394064	PHASE1/PHASE2	TERMINATED	A Study to Evaluate Administration of SBT101 Gene Therapy in Adult Patients With Adrenomyeloneuropathy (AMN)
NCT00004442	Not specified	TERMINATED	Study of Bile Acids in Patients With Peroxisomal Disorders
NCT00004450	Not specified	COMPLETED	Randomized Study of Beta Interferon and Thalidomide in Patients With Adrenoleukodystrophy
NCT00005900	Not specified	UNKNOWN	Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation
NCT00278044	Not specified	UNKNOWN	Clinical Study and Gene Mutation Analysis of Adrenoleukodystrophy in Taiwanese Children
NCT01165060	Not specified	COMPLETED	The Effect of Bezafibrate on the Level of Very Long Chain Fatty Acids (VLCFA) in X-linked Adrenoleukodystrophy (X-ALD)