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About 948 results

ALLMedicine™ Adrenoleukodystrophy Center

Research & Reviews  323 results

Long-term Follow-up of Participants With Cerebral Adrenoleukodystrophy Who Were Treated With Lenti-D Drug Product
https://clinicaltrials.gov/ct2/show/NCT02698579

Aug 12th, 2022 - This is a multi-center, long-term safety and efficacy follow-up study for participants with cerebral adrenoleukodystrophy (CALD) who have received Lenti-D Drug Product in a parent clinical study. After completing a parent clinical study (approxima...

Recurrent episodes of vomiting and diarrhoea in a male child: a rare presentation of X-...
https://doi.org/10.1136/bcr-2022-249905
BMJ Case Reports; Gupta P, Keller SR et. al.

Aug 11th, 2022 - Recurrent episodes of vomiting and diarrhoea in a child can present as a diagnostic dilemma and be easily misdiagnosed as recurrent viral gastroenteritis episodes. Primary adrenal insufficiency can present with recurrent episodes of vomiting and d...

Intracerebral lentiviral ABCD1 gene therapy in an early disease onset ALD mouse model.
https://doi.org/10.1038/s41434-022-00355-0
Gene Therapy; Gong J, Liu Y et. al.

Jul 6th, 2022 - X-linked adrenoleukodystrophy (ALD) is a genetic disorder of the ABCD1 gene. We aimed to treat ALD via direct intracerebral injection of lentiviral ABCD1 (LV.ABCD1). Lentiviral vectors (LVs) were injected into the brain of wild type mice to access...

Activating cannabinoid receptor 2 preserves axonal health through GSK-3β/NRF2 axis in a...
https://doi.org/10.1007/s00401-022-02451-2
Acta Neuropathologica; Parameswaran J, Goicoechea L et. al.

Jul 2nd, 2022 - Aberrant endocannabinoid signaling accompanies several neurodegenerative disorders, including multiple sclerosis. Here, we report altered endocannabinoid signaling in X-linked adrenoleukodystrophy (X-ALD), a rare neurometabolic demyelinating syndr...

Beneficial Effects of the Direct AMP-Kinase Activator PXL770 in In Vitro and In Vivo Mo...
https://doi.org/10.1124/jpet.122.001208
The Journal of Pharmacology and Experimental Therapeutics; Monternier PA, Parasar P et. al.

Jun 29th, 2022 - X-linked adrenoleukodystrophy (ALD) is a severe orphan disease caused by mutations in the peroxisomal ABCD1 transporter gene, leading to toxic accumulation of Very Long-Chain Fatty Acids (VLCFA - in particular C26:0) resulting in inflammation, mit...

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Guidelines  2 results

MRI surveillance of boys with X-linked adrenoleukodystrophy identified by newborn scree...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8113077
Journal of Inherited Metabolic Disease; Mallack EJ, Turk BR et. al.

Dec 30th, 2020 - Among boys with X-Linked adrenoleukodystrophy, a subset will develop childhood cerebral adrenoleukodystrophy (CCALD). CCALD is typically lethal without hematopoietic stem cell transplant before or soon after symptom onset. We sought to establish e...

Adrenoleukodystrophy: Guidance for Adrenal Surveillance in Males Identified by Newborn ...
https://doi.org/10.1210/jc.2018-00920
The Journal of Clinical Endocrinology and Metabolism; Regelmann MO, Kamboj MK et. al.

Oct 6th, 2018 - Adrenoleukodystrophy (ALD) is a peroxisomal disorder associated with neurologic decompensation and adrenal insufficiency. Newborn screening for ALD has recently been implemented in five states with plans to expand to all 50 states in the United St...

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Clinicaltrials.gov  36 results

Long-term Follow-up of Participants With Cerebral Adrenoleukodystrophy Who Were Treated With Lenti-D Drug Product
https://clinicaltrials.gov/ct2/show/NCT02698579

Aug 12th, 2022 - This is a multi-center, long-term safety and efficacy follow-up study for participants with cerebral adrenoleukodystrophy (CALD) who have received Lenti-D Drug Product in a parent clinical study. After completing a parent clinical study (approxima...

A Pilot Study of Vitamin D in Boys With X-linked Adrenoleukodystrophy
https://clinicaltrials.gov/ct2/show/NCT02595489

Jun 9th, 2022 - Prior research suggests that higher vitamin D levels in the blood are associated with reduced brain inflammation among individuals with multiple sclerosis, a disease that is similar to the cerebral demyelinating form of ALD. However, serious side ...

Autologous Hematopoietic Stem Cell Gene Therapy for Metachromatic Leukodystrophy and Adrenoleukodystrophy
https://clinicaltrials.gov/ct2/show/NCT02559830

May 31st, 2022 - This is a phase I/II protocol aiming at the assessment of the safety and efficacy of arylsulfatase A(ARSA) / adenosine-triphosphate-binding cassette, sub-family D (ABCD1) gene transfer into hematopoietic stem/progenitor cells for the treatment of...

SMART-ALD - A New Lifestyle Intervention to Improve Quality of Life in Women With X-linked Adrenoleukodystrophy (X-ALD)
https://clinicaltrials.gov/ct2/show/NCT04687007

May 25th, 2022 - X-linked Adrenoleukodystrophy (X-ALD) is one of the most frequent inborn error of metabolism caused by mutations in the ABCD1 gene, which codes for the transporter of saturated very long-chain fatty acids (VLCFA) for peroxisomal degradation, thus ...

Study of Disease Progression in Adults With Inherited Forms of Spastic Paraplegia
https://clinicaltrials.gov/ct2/show/NCT05008874

May 17th, 2022 - Progressive weakness and spasticity of the legs are characteristics of numerous disorders and conditions, including those that are inherited neurological disorders. Adrenomyeloneuropathy (AMN) is an example of an inherited form of spastic parapleg...

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News  15 results

FDA Committee Unanimous on Two Gene Therapies
https://www.medscape.com/viewarticle/975467

Jun 13th, 2022 - A US Food and Drug Administration advisory committee gave a unanimous thumbs up to two new gene therapies: betibeglogene autotemcel (beti-cel) for the treatment of a blood disorder, transfusion-dependent beta-thalassemia; and elivaldogene autotemc...

Restless Legs Syndrome Common in X-linked Adrenoleukodystrophy
https://www.medscape.com/viewarticle/971868

Apr 8th, 2022 - Restless legs syndrome occurred in approximately 40% of adults with X-linked adrenoleukodystrophy, based on data from 32 individuals. Dr John Winkelman Patients with X-linked adrenoleukodystrophy (ALD), a neurodegenerative disease, often experienc...

Restless legs syndrome occurs often in X-linked adrenoleukodystrophy
https://www.mdedge.com/psychiatry/article/253569/movement-disorders/restless-legs-syndrome-occurs-often-x-linked
Heidi Splete

Apr 7th, 2022 - Restless legs syndrome occurred in approximately 40% of adults with X-linked adrenoleukodystrophy, based on data from 32 individuals. Patients with X-linked adrenoleukodystrophy (ALD), a neurodegenerative disease, often experience gait and balance.

The Real Reason Some Newborns Don't Get Screening for Deadly Diseases
https://www.medpagetoday.com/pediatrics/generalpediatrics/96333

Dec 21st, 2021 - Shannon Smith describes her daughter's birth as not all that eventful. She and her husband drove 10 minutes from their home in rural Alabama across the state line to a hospital in Georgia where they had scheduled a C-section for what was anticipat...

Best Pediatric Endocrinology Hospitals; Standards of Diabetes Care Updated
https://www.medpagetoday.com/endocrinology/generalendocrinology/93175

Jun 20th, 2021 - Children's Hospital of Philadelphia topped U.S. News & World Report's 2021-2022 list for best hospitals for pediatric diabetes & endocrinology. The number two and three spots went to Boston Children's Hospital and Cincinnati Children's Hospital Me...

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Patient Education  3 results see all →