Our research summaries

Adrenoleukodystrophy (ALD) https://www.nature.com/articles/s41525-025-00497-1 X-linked adrenoleukodystrophy (X-ALD) is a rare genetic condition that affects how the body breaks down very long-chain fatty acids (VLCFAs), leading to a buildup in tissues and potential damage to the brain, adrenal glands, and spinal cord. It is caused by mutations in the ABCD1 gene, located on the X chromosome. This […]

Adrenoleukodystrophy (ALD) Clinical trial update https://www.minoryx.com/media/results_from_nexus_interim_analysis_published_in_eclinicalmedicine

Adrenoleukodystrophy (ALD) https://www.nature.com/articles/s43856-025-00915-6 Adrenoleukodystrophy (ALD) is a genetic disorder leading to the build-up of very long chain fatty acids (VLCFAs) that can cause adrenal insufficiency and ultimately develop into cerebral ALD (cALD). The current method to monitor the onset and progression of cALD is based on frequent brain MRI imaging. In this study, researchers investigated […]

Adrenoleukodystrophy (ALD) https://investor.bluebirdbio.com/news-releases/news-release-details/carlyle-and-sk-capital-receive-all-required-regulatory-approvals

Adrenoleukodystrophy (ALD) https://www.analesdepediatria.org/en-primary-adrenal-insufficiency-case-study-articulo-S2341287924002680 Primary adrenal insufficiency (PAI) is a rare but serious condition where the adrenal glands fail to produce glucocorticoids and/or mineralocorticoids, putting children at risk of life-threatening adrenal crises. This study looked at 29 children with PAI to better understand its causes, symptoms, and treatment, with the goal of improving early diagnosis and […]

Adrenoleukodystrophy (ALD) https://investor.bluebirdbio.com/news-releases/news-release-details/bluebird-bio-announces-definitive-agreement-be-acquired-carlyle

Adrenoleukodystrophy (ALD) https://www.sciencedirect.com/science/article/pii/S216225312500023X X-linked adrenoleukodystrophy (X-ALD) is a severe genetic disorder that primarily affects the nervous system and adrenal glands and is caused by mutations in the ABCD1 gene. Existing animal models have not fully replicated the disease’s progression in humans, making it difficult to develop effective therapies. To address this, researchers used CRISPR-Cas9 gene-editing […]

Adrenoleukodystrophy (ALD) https://www.neurology.org/doi/10.1212/WNL.0000000000213370?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%20%200pubmed This study in the United States highlights the significant burden of adrenoleukodystrophy (ALD) in female individuals, with over 90% experiencing neurological symptoms. The most common symptoms included urinary issues, walking difficulties, and spasticity (abnormal muscle tightness or spasm due to prolonged muscle contraction), with sensory symptoms like neuropathic pain and paresthesia (feelings […]

Adrenoleukodystrophy (ALD) A Clinical Study to Assess the Efficacy and Safety of Leriglitazone in Adult Male Subjects With Cerebral Adrenoleukodystrophy (CALYX) https://clinicaltrials.gov/study/NCT05819866

Adrenomyeloneuropathy (AMN) https://pmc.ncbi.nlm.nih.gov/articles/PMC11706703/#jimd12845 Adrenoleukodystrophy (ALD) is a genetic disorder that can affect the spinal cord, leading to mobility and sensory issues. This study followed 79 adult men with ALD over 7 years to understand how spinal cord disease progresses in this condition and is the longest follow up study in this cohort to date. ALD […]

Adrenoleukodystrophy (ALD) https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.63995?af=R Newborn screening for adrenoleukodystrophy (ALD) has enabled early detection and intervention, improving outcomes for affected children. This study examined cases identified through newborn screening in Minnesota, highlighting key findings related to cerebral ALD, adrenal insufficiency (AI), genetic variations, and biochemical markers. Two children diagnosed through newborn screening developed cerebral ALD at ages 3.6 […]

Adrenoleukodystrophy (ALD) https://pmc.ncbi.nlm.nih.gov/articles/PMC11727801 X-linked adrenoleukodystrophy (X-ALD) is a genetic disorder that progressively affects the brain and nervous system by accumulating very long chain fatty acids (VLCFA). Early manifestations include visual impairments, and this study looked at how X-ALD affects the small blood vessels in the eyes by using a special imaging tool called optical coherence tomography […]