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Cerebral Adrenoleukodystrophy

MedGen UID:
1641046
•Concept ID:
C4684865
•
Disease or Syndrome

Definition

A subtype of adrenoleukodystrophy (ALD) occurring in approximately 40 percent of boys with ALD, primarily affecting the cerebrum, resulting in rapidly declining neurocognitive function and in most patients, premature death. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCerebral Adrenoleukodystrophy

Professional guidelines

PubMed

Treatment of cerebral adrenoleukodystrophy: allogeneic transplantation and lentiviral gene therapy.
Gupta AO, Raymond G, Pierpont EI, Kemp S, McIvor RS, Rayannavar A, Miller B, Lund TC, Orchard PJ
Expert Opin Biol Ther 2022 Sep;22(9):1151-1162. Epub 2022 Sep 19 doi: 10.1080/14712598.2022.2124857. PMID: 36107226
Optimizing Treatment for Cerebral Adrenoleukodystrophy in the Era of Gene Therapy.
Engelen M
N Engl J Med 2017 Oct 26;377(17):1682-1684. Epub 2017 Oct 4 doi: 10.1056/NEJMe1709253. PMID: 28976819
X-linked adrenoleukodystrophy: pathogenesis and treatment.
Engelen M, Kemp S, Poll-The BT
Curr Neurol Neurosci Rep 2014 Oct;14(10):486. doi: 10.1007/s11910-014-0486-0. PMID: 25115486

Recent clinical studies

Etiology

Lentiviral Gene Therapy for Cerebral Adrenoleukodystrophy.
Eichler F, Duncan CN, Musolino PL, Lund TC, Gupta AO, De Oliveira S, Thrasher AJ, Aubourg P, Kühl JS, Loes DJ, Amartino H, Smith N, Folloni Fernandes J, Sevin C, Sankar R, Hussain SA, Gissen P, Dalle JH, Platzbecker U, Downey GF, McNeil E, Demopoulos L, Dietz AC, Thakar HL, Orchard PJ, Williams DA
N Engl J Med 2024 Oct 10;391(14):1302-1312. doi: 10.1056/NEJMoa2400442. PMID: 39383459
Hematologic Cancer after Gene Therapy for Cerebral Adrenoleukodystrophy.
Duncan CN, Bledsoe JR, Grzywacz B, Beckman A, Bonner M, Eichler FS, Kühl JS, Harris MH, Slauson S, Colvin RA, Prasad VK, Downey GF, Pierciey FJ, Kinney MA, Foos M, Lodaya A, Floro N, Parsons G, Dietz AC, Gupta AO, Orchard PJ, Thakar HL, Williams DA
N Engl J Med 2024 Oct 10;391(14):1287-1301. doi: 10.1056/NEJMoa2405541. PMID: 39383458Free PMC Article
Treatment of cerebral adrenoleukodystrophy: allogeneic transplantation and lentiviral gene therapy.
Gupta AO, Raymond G, Pierpont EI, Kemp S, McIvor RS, Rayannavar A, Miller B, Lund TC, Orchard PJ
Expert Opin Biol Ther 2022 Sep;22(9):1151-1162. Epub 2022 Sep 19 doi: 10.1080/14712598.2022.2124857. PMID: 36107226
Successful donor engraftment and repair of the blood-brain barrier in cerebral adrenoleukodystrophy.
Orchard PJ, Nascene DR, Miller WP, Gupta A, Kenney-Jung D, Lund TC
Blood 2019 Mar 21;133(12):1378-1381. Epub 2019 Jan 11 doi: 10.1182/blood-2018-11-887240. PMID: 30635285Free PMC Article
Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy.
Eichler F, Duncan C, Musolino PL, Orchard PJ, De Oliveira S, Thrasher AJ, Armant M, Dansereau C, Lund TC, Miller WP, Raymond GV, Sankar R, Shah AJ, Sevin C, Gaspar HB, Gissen P, Amartino H, Bratkovic D, Smith NJC, Paker AM, Shamir E, O'Meara T, Davidson D, Aubourg P, Williams DA
N Engl J Med 2017 Oct 26;377(17):1630-1638. Epub 2017 Oct 4 doi: 10.1056/NEJMoa1700554. PMID: 28976817Free PMC Article

Diagnosis

Lentiviral Gene Therapy for Cerebral Adrenoleukodystrophy.
Eichler F, Duncan CN, Musolino PL, Lund TC, Gupta AO, De Oliveira S, Thrasher AJ, Aubourg P, Kühl JS, Loes DJ, Amartino H, Smith N, Folloni Fernandes J, Sevin C, Sankar R, Hussain SA, Gissen P, Dalle JH, Platzbecker U, Downey GF, McNeil E, Demopoulos L, Dietz AC, Thakar HL, Orchard PJ, Williams DA
N Engl J Med 2024 Oct 10;391(14):1302-1312. doi: 10.1056/NEJMoa2400442. PMID: 39383459
Targeting VEGF-mediated blood-brain barrier disruption in advanced cerebral leukodystrophy.
Gupta AO, Furcich JW, Nascene DR, Kemp S, King CJ, Nolan EE, Durose W, Miller BS, Orchard PJ, Lund TC
J Neuroimmunol 2024 Aug 15;393:578395. Epub 2024 Jun 13 doi: 10.1016/j.jneuroim.2024.578395. PMID: 38897089
X-linked cerebral adrenoleukodystrophy.
Weldrick CL, Boers P, Kiely P, O'Halloran L
BMJ Case Rep 2023 Oct 31;16(10) doi: 10.1136/bcr-2020-237905. PMID: 37907311Free PMC Article
Pearls & Oy-sters: Adolescent-onset adrenomyeloneuropathy and arrested cerebral adrenoleukodystrophy.
Lin JE, Armour EA, Heshmati A, Umandap C, Couto JJ, Iglesias AD, Mallack EJ, Bain JM
Neurology 2019 Jul 9;93(2):81-84. doi: 10.1212/WNL.0000000000007755. PMID: 31285402Free PMC Article
Childhood cerebral adrenoleukodystrophy.
Mittal A, Aggarwal KC
Indian J Med Res 2014 Aug;140(2):319-20. PMID: 25297370Free PMC Article

Therapy

Lentiviral Gene Therapy for Cerebral Adrenoleukodystrophy.
Eichler F, Duncan CN, Musolino PL, Lund TC, Gupta AO, De Oliveira S, Thrasher AJ, Aubourg P, Kühl JS, Loes DJ, Amartino H, Smith N, Folloni Fernandes J, Sevin C, Sankar R, Hussain SA, Gissen P, Dalle JH, Platzbecker U, Downey GF, McNeil E, Demopoulos L, Dietz AC, Thakar HL, Orchard PJ, Williams DA
N Engl J Med 2024 Oct 10;391(14):1302-1312. doi: 10.1056/NEJMoa2400442. PMID: 39383459
Hematologic Cancer after Gene Therapy for Cerebral Adrenoleukodystrophy.
Duncan CN, Bledsoe JR, Grzywacz B, Beckman A, Bonner M, Eichler FS, Kühl JS, Harris MH, Slauson S, Colvin RA, Prasad VK, Downey GF, Pierciey FJ, Kinney MA, Foos M, Lodaya A, Floro N, Parsons G, Dietz AC, Gupta AO, Orchard PJ, Thakar HL, Williams DA
N Engl J Med 2024 Oct 10;391(14):1287-1301. doi: 10.1056/NEJMoa2405541. PMID: 39383458Free PMC Article
Targeting VEGF-mediated blood-brain barrier disruption in advanced cerebral leukodystrophy.
Gupta AO, Furcich JW, Nascene DR, Kemp S, King CJ, Nolan EE, Durose W, Miller BS, Orchard PJ, Lund TC
J Neuroimmunol 2024 Aug 15;393:578395. Epub 2024 Jun 13 doi: 10.1016/j.jneuroim.2024.578395. PMID: 38897089
Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy.
Eichler F, Duncan C, Musolino PL, Orchard PJ, De Oliveira S, Thrasher AJ, Armant M, Dansereau C, Lund TC, Miller WP, Raymond GV, Sankar R, Shah AJ, Sevin C, Gaspar HB, Gissen P, Amartino H, Bratkovic D, Smith NJC, Paker AM, Shamir E, O'Meara T, Davidson D, Aubourg P, Williams DA
N Engl J Med 2017 Oct 26;377(17):1630-1638. Epub 2017 Oct 4 doi: 10.1056/NEJMoa1700554. PMID: 28976817Free PMC Article
Childhood cerebral adrenoleukodystrophy.
Mittal A, Aggarwal KC
Indian J Med Res 2014 Aug;140(2):319-20. PMID: 25297370Free PMC Article

Prognosis

Weighing the Risks of Lentiviral Gene Therapy for Cerebral Adrenoleukodystrophy.
Dunbar CE
N Engl J Med 2024 Oct 10;391(14):1358-1359. doi: 10.1056/NEJMe2409399. PMID: 39383463
Lentiviral Gene Therapy for Cerebral Adrenoleukodystrophy.
Eichler F, Duncan CN, Musolino PL, Lund TC, Gupta AO, De Oliveira S, Thrasher AJ, Aubourg P, Kühl JS, Loes DJ, Amartino H, Smith N, Folloni Fernandes J, Sevin C, Sankar R, Hussain SA, Gissen P, Dalle JH, Platzbecker U, Downey GF, McNeil E, Demopoulos L, Dietz AC, Thakar HL, Orchard PJ, Williams DA
N Engl J Med 2024 Oct 10;391(14):1302-1312. doi: 10.1056/NEJMoa2400442. PMID: 39383459
Hematologic Cancer after Gene Therapy for Cerebral Adrenoleukodystrophy.
Duncan CN, Bledsoe JR, Grzywacz B, Beckman A, Bonner M, Eichler FS, Kühl JS, Harris MH, Slauson S, Colvin RA, Prasad VK, Downey GF, Pierciey FJ, Kinney MA, Foos M, Lodaya A, Floro N, Parsons G, Dietz AC, Gupta AO, Orchard PJ, Thakar HL, Williams DA
N Engl J Med 2024 Oct 10;391(14):1287-1301. doi: 10.1056/NEJMoa2405541. PMID: 39383458Free PMC Article
Hematopoietic stem cell transplantation in leukodystrophies.
Sevin C, Mochel F
Handb Clin Neurol 2024;204:355-366. doi: 10.1016/B978-0-323-99209-1.00017-X. PMID: 39322389
Successful donor engraftment and repair of the blood-brain barrier in cerebral adrenoleukodystrophy.
Orchard PJ, Nascene DR, Miller WP, Gupta A, Kenney-Jung D, Lund TC
Blood 2019 Mar 21;133(12):1378-1381. Epub 2019 Jan 11 doi: 10.1182/blood-2018-11-887240. PMID: 30635285Free PMC Article

Clinical prediction guides

Lentiviral Gene Therapy for Cerebral Adrenoleukodystrophy.
Eichler F, Duncan CN, Musolino PL, Lund TC, Gupta AO, De Oliveira S, Thrasher AJ, Aubourg P, Kühl JS, Loes DJ, Amartino H, Smith N, Folloni Fernandes J, Sevin C, Sankar R, Hussain SA, Gissen P, Dalle JH, Platzbecker U, Downey GF, McNeil E, Demopoulos L, Dietz AC, Thakar HL, Orchard PJ, Williams DA
N Engl J Med 2024 Oct 10;391(14):1302-1312. doi: 10.1056/NEJMoa2400442. PMID: 39383459
Volume of Gadolinium Enhancement and Successful Repair of the Blood-Brain Barrier in Cerebral Adrenoleukodystrophy.
Lund TC, Ng M, Orchard PJ, Loes DJ, Raymond GV, Gupta A, Kenny-Jung D, Nascene DR
Biol Blood Marrow Transplant 2020 Oct;26(10):1894-1899. Epub 2020 Jun 26 doi: 10.1016/j.bbmt.2020.06.019. PMID: 32599216
Successful donor engraftment and repair of the blood-brain barrier in cerebral adrenoleukodystrophy.
Orchard PJ, Nascene DR, Miller WP, Gupta A, Kenney-Jung D, Lund TC
Blood 2019 Mar 21;133(12):1378-1381. Epub 2019 Jan 11 doi: 10.1182/blood-2018-11-887240. PMID: 30635285Free PMC Article
Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy.
Eichler F, Duncan C, Musolino PL, Orchard PJ, De Oliveira S, Thrasher AJ, Armant M, Dansereau C, Lund TC, Miller WP, Raymond GV, Sankar R, Shah AJ, Sevin C, Gaspar HB, Gissen P, Amartino H, Bratkovic D, Smith NJC, Paker AM, Shamir E, O'Meara T, Davidson D, Aubourg P, Williams DA
N Engl J Med 2017 Oct 26;377(17):1630-1638. Epub 2017 Oct 4 doi: 10.1056/NEJMoa1700554. PMID: 28976817Free PMC Article
Interaction of N-acetylcysteine and cysteine in human plasma.
Radtke KK, Coles LD, Mishra U, Orchard PJ, Holmay M, Cloyd JC
J Pharm Sci 2012 Dec;101(12):4653-9. Epub 2012 Sep 27 doi: 10.1002/jps.23325. PMID: 23018672

Recent systematic reviews

MRI surveillance of boys with X-linked adrenoleukodystrophy identified by newborn screening: Meta-analysis and consensus guidelines.
Mallack EJ, Turk BR, Yan H, Price C, Demetres M, Moser AB, Becker C, Hollandsworth K, Adang L, Vanderver A, Van Haren K, Ruzhnikov M, Kurtzberg J, Maegawa G, Orchard PJ, Lund TC, Raymond GV, Regelmann M, Orsini JJ, Seeger E, Kemp S, Eichler F, Fatemi A
J Inherit Metab Dis 2021 May;44(3):728-739. Epub 2021 Jan 9 doi: 10.1002/jimd.12356. PMID: 33373467Free PMC Article

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