MCID: ADR022
MIFTS: 43

Adrenomyeloneuropathy

Categories: Endocrine diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Adrenomyeloneuropathy

MalaCards integrated aliases for Adrenomyeloneuropathy:

Name: Adrenomyeloneuropathy 54 74
Adrenoleukodystrophy 74
Amn 54

Classifications:



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Summaries for Adrenomyeloneuropathy

NIH Rare Diseases : 54 Adrenomyeloneuropathy (AMN) is an inherited condition that affects the spinal cord. It is a form of X-linked adrenoleukodystrophy. On average, people with AMN begin to develop features in the late twenties. Signs and symptoms may include progressive stiffness and weakness of the legs; ataxia; speech difficulties; adrenal insufficiency; sexual dysfunction; and bladder control issues. Some people with AMN also have brain involvement which can lead to behavioral abnormalities, vision loss, hearing problems, and/or seizures. AMN is caused by changes (mutations) in the ABCD1 gene and is inherited in an X-linked manner. Treatment addresses the symptoms in each person and may include steroid replacement therapy for adrenal insufficiency.

MalaCards based summary : Adrenomyeloneuropathy, also known as adrenoleukodystrophy, is related to adrenoleukodystrophy and megaloblastic anemia 1, and has symptoms including seizures, ataxia and paraparesis. An important gene associated with Adrenomyeloneuropathy is ABCD1 (ATP Binding Cassette Subfamily D Member 1), and among its related pathways/superpathways are G alpha (s) signalling events and Peroxisome. The drugs Prednisolone phosphate and Methylprednisolone have been mentioned in the context of this disorder. Affiliated tissues include brain, bone and spinal cord.

Wikipedia : 77 Adrenoleukodystrophy (ALD) is a disease linked to the X chromosome. It is a result of fatty acid buildup... more...

Related Diseases for Adrenomyeloneuropathy

Graphical network of the top 20 diseases related to Adrenomyeloneuropathy:



Diseases related to Adrenomyeloneuropathy

Symptoms & Phenotypes for Adrenomyeloneuropathy

UMLS symptoms related to Adrenomyeloneuropathy:


seizures, ataxia, paraparesis, muscle spasticity, absence of sensation, unspecified visual loss

Drugs & Therapeutics for Adrenomyeloneuropathy

Drugs for Adrenomyeloneuropathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 101)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
2
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
3
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Phase 3 50-18-0, 6055-19-2 2907
4
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
5
Busulfan Approved, Investigational Phase 2, Phase 3,Phase 3,Phase 1 55-98-1 2478
6
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
7
Fludarabine Approved Phase 3,Phase 2,Phase 1 75607-67-9, 21679-14-1 30751
8
Glycerol Approved, Investigational Phase 2, Phase 3 56-81-5 753
9
Biotin Approved, Investigational, Nutraceutical Phase 2, Phase 3 58-85-5 171548
10
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
11
Betaine Approved, Nutraceutical Phase 3 107-43-7 247
12
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
13 Trace Elements Phase 2, Phase 3,Phase 1
14 Vitamin B7 Phase 2, Phase 3
15 Vitamin B Complex Phase 2, Phase 3
16 Vitamins Phase 2, Phase 3,Phase 1
17 Vitamin B9 Phase 2, Phase 3
18 Folate Phase 2, Phase 3
19 Nutrients Phase 2, Phase 3,Phase 1
20 Micronutrients Phase 2, Phase 3,Phase 1
21 Cholic Acids Phase 3,Not Applicable
22 Gastrointestinal Agents Phase 3,Not Applicable
23 Bile Acids and Salts Phase 3,Not Applicable
24 Liver Extracts Phase 3
25 Prednisolone acetate Phase 2, Phase 3
26 Antineoplastic Agents, Alkylating Phase 2, Phase 3,Phase 1,Not Applicable
27 Methylprednisolone Acetate Phase 2, Phase 3
28 Alkylating Agents Phase 2, Phase 3,Phase 1,Not Applicable
29 Immunologic Factors Phase 2, Phase 3,Phase 1,Not Applicable
30 Immunosuppressive Agents Phase 2, Phase 3,Phase 1,Not Applicable
31 Antilymphocyte Serum Phase 2, Phase 3,Phase 1
32 Antirheumatic Agents Phase 2, Phase 3,Not Applicable
33 Antimetabolites Phase 3,Phase 2,Phase 1,Not Applicable
34 Lipid Regulating Agents Phase 3,Not Applicable
35 Hypolipidemic Agents Phase 3,Not Applicable
36 Pharmaceutical Solutions Phase 3,Phase 2
37
Acetylcysteine Approved, Investigational Phase 2,Phase 1 616-91-1 12035
38
Tocopherol Approved, Investigational Phase 2 1406-66-2 14986
39
Benzocaine Approved, Investigational Phase 2,Not Applicable 1994-09-7, 94-09-7 2337
40
Hydroxyurea Approved Phase 2 127-07-1 3657
41
Melphalan Approved Phase 2,Not Applicable 148-82-3 460612 4053
42
alemtuzumab Approved, Investigational Phase 2,Not Applicable 216503-57-0
43
Clofarabine Approved, Investigational Phase 2,Not Applicable 123318-82-1 119182
44
tannic acid Approved Phase 2,Not Applicable 1401-55-4
45
Miconazole Approved, Investigational, Vet_approved Phase 2,Not Applicable 22916-47-8 4189
46
Mycophenolic acid Approved Phase 2,Not Applicable 24280-93-1 446541
47
Mesna Approved, Investigational Phase 2 3375-50-6 598
48
Thiotepa Approved, Investigational Phase 2,Phase 1 52-24-4 5453
49
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
50
rituximab Approved Phase 2 174722-31-7 10201696

Interventional clinical trials:

(show all 46)
# Name Status NCT ID Phase Drugs
1 MD1003-AMN MD1003 in Adrenomyeloneuropathy Completed NCT02961803 Phase 2, Phase 3 MD1003 100 mg capsule;Placebo
2 Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic Acid Completed NCT00007020 Phase 3 Cholic Acids
3 Stem Cell Transplant for Inborn Errors of Metabolism Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
4 Betaine and Peroxisome Biogenesis Disorders Completed NCT01838941 Phase 3 Betaine
5 Clinical Study to Assess the Efficacy and Safety of Gene Therapy for the Treatment of Cerebral Adrenoleukodystrophy (CALD) Recruiting NCT03852498 Phase 3 Genetic
6 A Phase 2/3 Study of the Efficacy and Safety of Hematopoietic Stem Cells Transduced With Lenti-D Lentiviral Vector for the Treatment of Cerebral Adrenoleukodystrophy (CALD) Active, not recruiting NCT01896102 Phase 2, Phase 3
7 A Clinical Study to Evaluate the Efficacy and Safety of MIN-102 (IMP) in Male AMN Patients. Active, not recruiting NCT03231878 Phase 2, Phase 3 MIN-102;Placebos
8 Effect of Glycerol Trierucate on Clinical Course of Adrenoleukodystrophy Suspended NCT00004418 Phase 2, Phase 3 glyceryl trierucate;glyceryl trioleate
9 A Phase III Trial of Lorenzo's Oil in Adrenomyeloneuropathy Terminated NCT00545597 Phase 3 Lorenzo's oil
10 ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases Terminated NCT00654433 Phase 3
11 A Clinical Trial for AMN: Validation of Biomarkers of Oxidative Stress, Efficacy and Safety of a Mixture of Antioxidants Completed NCT01495260 Phase 2 N-acetylcysteine;lipoic acid;vitamin E
12 HSCT for High Risk Inherited Inborn Errors Completed NCT00383448 Phase 2 Clofarabine;Melphalan;Alemtuzumab;mycophenylate mofetil;Hydroxyurea
13 Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders Completed NCT01043640 Phase 2 Campath-1H;Cyclophosphamide;Busulfan;Cyclosporine A;Mycophenolate Mofetil
14 Autologous Hematopoietic Stem Cell Gene Therapy for Metachromatic Leukodystrophy and Adrenoleukodystrophy Recruiting NCT02559830 Phase 1, Phase 2
15 Haploidentical Allogeneic Hematopoietic Stem Cell Transplantation (HaploHCT) Following Reduced Intensity Conditioning (RIC) for Selected High Risk Non-Malignant Diseases Recruiting NCT03367546 Phase 2
16 MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis Recruiting NCT02171104 Phase 2 IMD Preparative Regimen;Osteopetrosis Only Preparative Regimen;Osteopetrosis Haploidentical Only Preparative Regimen;cALD SR-A (Standard-Risk, Regimen A);cALD SR-B (Standard-Risk, Regimen B);cALD HR-D (High-Risk, Regimen C);cALD HR-D (High-Risk, Regimen D)
17 Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation Recruiting NCT03513328 Phase 1, Phase 2 Thiotepa--single daily dose;Thiotepa--escalated dose
18 MGTA-456 in Patients With Inherited Metabolic Disorders Undergoing Hematopoietic Stem Cell Transplantation (HSCT) Recruiting NCT03406962 Phase 2 MGTA-456
19 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
20 Effect of Pioglitazone Administered to Patients With Adrenomyeloneuropathy Active, not recruiting NCT03864523 Phase 2 Pioglitazone
21 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
22 Safety, Pharmacokinetics and Pharmacodynamics of NV1205 in Pediatric Male Subjects With Adrenoleukodystrophy Withdrawn NCT03196765 Phase 1, Phase 2 Sobetirome (NV1205)
23 A Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of OP-101 After Intravenous Administration in Healthy Volunteers Completed NCT03500627 Phase 1 OP-101
24 A Pilot Study of Vitamin D in Boys With X-linked Adrenoleukodystrophy Recruiting NCT02595489 Phase 1
25 UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
26 Human Placental-Derived Stem Cell Transplantation Active, not recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
27 MT2014-14 IT-MSC for Advanced Cerebral Adrenoleukodystrophy (cALD) Withdrawn NCT02410239 Phase 1
28 Safety and Pharmacodynamic Study of Sobetirome in X-Linked Adrenoleukodystrophy (X-ALD) Withdrawn NCT01787578 Phase 1 Sobetirome
29 Clinical Study and Gene Mutation Analysis of Adrenoleukodystrophy in Taiwanese Children Unknown status NCT00278044 Not Applicable
30 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
31 Repetitive Transcranial Magnetic Stimulation as Therapy in Hereditary Spastic Paraplegia and Adrenomyeloneuropathy Completed NCT03627416 Not Applicable
32 Newborn Screening for Adrenoleukodystrophy Completed NCT02952482
33 The Effect of Bezafibrate on the Level of Very Long Chain Fatty Acids (VLCFA) in X-linked Adrenoleukodystrophy (X-ALD) Completed NCT01165060 Not Applicable Bezafibrate
34 Exercise Study of Function and Pathology for Women With X-linked Adrenoleukodystrophy Completed NCT01594853 Not Applicable
35 Randomized Study of Beta Interferon and Thalidomide in Patients With Adrenoleukodystrophy Completed NCT00004450 Not Applicable glyceryl trierucate;glyceryl trioleate;interferon beta;thalidomide
36 Reduced-Intensity Hematopoietic Stem Cell Transplant for High Risk Lysosomal and Peroxisomal Disorders Completed NCT01626092 Not Applicable Campath-1H;Clofarabine;Melphalan;Cyclosporine A;Mycophenolate mofetil
37 Lentiviral Gene Therapy for X-ALD Recruiting NCT03727555 Not Applicable
38 A Study to Prospectively Assess Disease Progression in Male Children With X-ALD Recruiting NCT03278899
39 Observational Study to Evaluate Allogeneic HSCT Outcomes for Cerebral Adrenoleukodystrophy (CALD) Recruiting NCT02204904
40 Expanded Access to T-cell Depleted Haplo-Identical Stem Cells for Patients Receiving Haplo-Identical and Unrelated Cord Blood Transplants Available NCT01881334
41 Long-term Follow-up of Subjects With Cerebral Adrenoleukodystrophy Who Were Treated With Lenti-D Drug Product Enrolling by invitation NCT02698579
42 Minnesota Adrenoleukodystrophy Registry Study (MARS) and Biobank Not yet recruiting NCT03789721
43 Multi-center Clinical Study on the Diagnosis and Treatment Management of Rare Neurological Disease in Children Not yet recruiting NCT03649919
44 Expanded Access for Lorenzo's Oil (GTO/GTE) in Adrenoleukodystrophy No longer available NCT02233257 Lorenzo's Oil
45 Study of Bile Acids in Patients With Peroxisomal Disorders Terminated NCT00004442 Not Applicable chenodeoxycholic acid;cholic acid;ursodiol
46 Early Diagnosis Of Childhood Cerebral ALD Withdrawn NCT02948062

Search NIH Clinical Center for Adrenomyeloneuropathy

Genetic Tests for Adrenomyeloneuropathy

Anatomical Context for Adrenomyeloneuropathy

MalaCards organs/tissues related to Adrenomyeloneuropathy:

42
Brain, Bone, Spinal Cord, Bone Marrow, Skin, Liver, Testes

Publications for Adrenomyeloneuropathy

Articles related to Adrenomyeloneuropathy:

(show top 50) (show all 1185)
# Title Authors Year
1
Stability of the ABCD1 Protein with a Missense Mutation: A Novel Approach to Finding Therapeutic Compounds for X-Linked Adrenoleukodystrophy. ( 29926352 )
2019
2
Characteristics of Japanese patients with X-linked adrenoleukodystrophy and concerns of their families from the 1st registry system. ( 30077509 )
2019
3
The Natural History of Adrenal Insufficiency in X-Linked Adrenoleukodystrophy: An International Collaboration. ( 30252065 )
2019
4
Survival and Functional Outcomes in Boys with Cerebral Adrenoleukodystrophy with and without Hematopoietic Stem Cell Transplantation. ( 30292747 )
2019
5
A novel missense mutation in the ABCD1 gene of a Chinese boy diagnosed with X-linked adrenoleukodystrophy: case report. ( 30343438 )
2019
6
Perioperative management of a female diagnosed with heterozygous X-linked adrenoleukodystrophy scheduled for shoulder arthroscopy. ( 30447897 )
2019
7
Integrative lipidomic and transcriptomic analysis of X-linked adrenoleukodystrophy reveals distinct lipidome signatures between adrenomyeloneuropathy and childhood cerebral adrenoleukodystrophy. ( 30509496 )
2019
8
Allogeneic stem cell transplantation with reduced intensity conditioning for patients with adrenoleukodystrophy. ( 30519529 )
2019
9
Progression of myelopathy in males with adrenoleukodystrophy: towards clinical trial readiness. ( 30535170 )
2019
10
Successful donor engraftment and repair of the blood brain barrier in cerebral adrenoleukodystrophy. ( 30635285 )
2019
11
Targeted gene approach with biochemical assay confirms ABCD1 mutation of X-linked adrenoleukodystrophy in a 62-year-old man with gait imbalance. ( 30658899 )
2019
12
Late onset adrenoleukodystrophy: A review related clinical case report. ( 30671550 )
2019
13
X-linked adrenoleukodystrophy presenting as isolated spastic paraparesia. ( 30697666 )
2019
14
Disease progression in women with X-linked adrenoleukodystrophy is slow. ( 30732635 )
2019
15
Allogeneic hematopoietic stem cell transplantation with myeloablative conditioning for adult cerebral X-linked adrenoleukodystrophy. ( 30746707 )
2019
16
CRISPR/Cas9-mediated knockout of Abcd1 and Abcd2 genes in BV-2 cells: Novel microglial models for X-linked Adrenoleukodystrophy. ( 30769094 )
2019
17
Broadening the Spectrum of Adulthood X-Linked Adrenoleukodystrophy: A Report of Two Atypical Cases. ( 30787906 )
2019
18
Exogenous Addition of 25-Hydroxycholesterol Reduces Level of Very Long-Chain Fatty Acids in X-Linked Adrenoleukodystrophy. ( 30788208 )
2019
19
Cerebral adrenoleukodystrophy is associated with loss of tolerance to profilin. ( 30829395 )
2019
20
X-linked Adrenoleukodystrophy: Atypical Clinico-Radiological Presentation. ( 30847867 )
2019
21
MRI brain lesions in asymptomatic boys with X-linked adrenoleukodystrophy. ( 30902905 )
2019
22
Measuring early lesion growth in boys with cerebral demyelinating adrenoleukodystrophy. ( 30902909 )
2019
23
Generation of an induced pluripotent stem cell (iPSC) line from a 42-year-old adult cerebral type X-linked adrenoleukodystrophy (X-ALD) patient. ( 30921588 )
2019
24
Thermogenic flux induced by lignoceric acid in peroxisomes isolated from HepG2 cells and from X-adrenoleukodystrophy and control fibroblasts. ( 30932193 )
2019
25
Microglia damage precedes major myelin breakdown in X-linked adrenoleukodystrophy and metachromatic leukodystrophy. ( 30980503 )
2019
26
Flow injection ionization-tandem mass spectrometry-based estimation of a panel of lysophosphatidylcholines in dried blood spots for screening of X-linked adrenoleukodystrophy. ( 30980791 )
2019
27
A report on state-wide implementation of newborn screening for X-linked Adrenoleukodystrophy. ( 31074578 )
2019
28
Early Onset Primary Adrenal Insufficiency in Males with Adrenoleukodystrophy: Case Series and Literature Review. ( 31101408 )
2019
29
Intrathecal Adeno-Associated Viral Vector-Mediated Gene Delivery for Adrenomyeloneuropathy. ( 30358470 )
2019
30
Late adult-onset adrenomyeloneuropathy evolving with atypical severe frontal lobe syndrome: Importance of neuroimaging. ( 30546814 )
2019
31
Longitudinal quantitative magnetic resonance imaging in adrenomyeloneuropathy. ( 30932272 )
2019
32
Biomarker Identification, Safety, and Efficacy of High-Dose Antioxidants for Adrenomyeloneuropathy: a Phase II Pilot Study. ( 31077039 )
2019
33
Gene Therapy for Cerebral Adrenoleukodystrophy. ( 29394476 )
2018
34
Epigenomic signature of adrenoleukodystrophy predicts compromised oligodendrocyte differentiation. ( 29476661 )
2018
35
Post-transplant adaptive function in childhood cerebral adrenoleukodystrophy. ( 29560371 )
2018
36
Modeling and rescue of defective blood-brain barrier function of induced brain microvascular endothelial cells from childhood cerebral adrenoleukodystrophy patients. ( 29615068 )
2018
37
Multiplex tandem mass spectrometry assay for newborn screening of X-linked adrenoleukodystrophy, biotinidase deficiency, and galactosemia with flexibility to assay other enzyme assays and biomarkers. ( 29680633 )
2018
38
When multiple sclerosis and X-linked adrenoleukodystrophy are tangled: A challenging case. ( 29708222 )
2018
39
Busulfan, Fludarabine, and Cyclophosphamide (BFC) conditioning allowed stable engraftment after haplo-identical allogeneic stem cell transplantation in children with adrenoleukodystrophy and mucopolysaccharidosis. ( 29725109 )
2018
40
Etiology and treatment of adrenoleukodystrophy: new insights from Drosophila. ( 29739804 )
2018
41
Spastic paraparesis caused by X-linked adrenoleukodystrophy mimicking vacuolar myelopathy in a human immunodeficiency virus patient: A case report. ( 29768358 )
2018
42
A novel mutation in the ABCD1 gene of a Chinese patient with X-linked adrenoleukodystrophy: Case report. ( 29794777 )
2018
43
Impaired plasticity of macrophages in X-linked adrenoleukodystrophy. ( 29860501 )
2018
44
Late-diagnosed phenylketonuria mimicking x-linked adrenoleukodystrophy with heterozygous mutations of the PAH Gene: A case report and literature review. ( 29909188 )
2018
45
Newborn Screening and Emerging Therapies for X-Linked Adrenoleukodystrophy. ( 29946687 )
2018
46
Rare variability in adrenoleukodystrophy: a case report. ( 29950168 )
2018
47
Aberrant regulation of the GSK-3β/NRF2 axis unveils a novel therapy for adrenoleukodystrophy. ( 29997171 )
2018
48
Liquid chromatography-tandem mass spectrometry method for estimation of a panel of lysophosphatidylcholines in dried blood spots for screening of X-linked adrenoleukodystrophy. ( 30018013 )
2018
49
Dendrimer-N-acetyl-L-cysteine modulates monophagocytic response in adrenoleukodystrophy. ( 30069915 )
2018
50
Anaesthetic management of a child with adrenoleukodystrophy: A case report. ( 30166663 )
2018

Variations for Adrenomyeloneuropathy

Expression for Adrenomyeloneuropathy

Search GEO for disease gene expression data for Adrenomyeloneuropathy.

Pathways for Adrenomyeloneuropathy

Pathways related to Adrenomyeloneuropathy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.32 ADM CGA
2 11.05 ABCD1 AMACR SLC25A17
3
Show member pathways
10.52 ABCD1 AMACR SLC25A17

GO Terms for Adrenomyeloneuropathy

Cellular components related to Adrenomyeloneuropathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peroxisomal membrane GO:0005778 9.16 ABCD1 SLC25A17
2 integral component of peroxisomal membrane GO:0005779 8.96 ABCD1 SLC25A17
3 peroxisome GO:0005777 8.8 ABCD1 AMACR SLC25A17

Biological processes related to Adrenomyeloneuropathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 fatty acid beta-oxidation GO:0006635 9.16 ABCD1 SLC25A17
2 developmental growth GO:0048589 8.96 ADM CGA
3 fatty acid beta-oxidation using acyl-CoA oxidase GO:0033540 8.62 ABCD1 AMACR

Molecular functions related to Adrenomyeloneuropathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 8.62 ADM CGA

Sources for Adrenomyeloneuropathy

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