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July 18, 2019July 18, 2019

European Initiative Targets Diagnosis, Treatment of Rare Diseases

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A new international consortium based in Paris, and funded largely by the 28-member European Union, intends to speed the diagnosis of rare diseases, while also accelerating the development of treatments ... Read more

July 16, 2019July 16, 2019

Hyperpigmentation Should Be Considered in Diagnosing X-ALD, Case Report Says

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Physicians should consider generalized hyperpigmentation, or skin darkening, in the differential diagnosis of patients with adrenoleukodystrophy, a case report suggests. The case report study, “Generalized skin hyperpigmentation as the only ... Read more

July 9, 2019July 9, 2019

Report of Siblings with X-ALD Highlights Different Disease Manifestations

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A new case report describes two siblings with X-linked adrenoleukodystrophy (X-ALD) who had very different manifestations of the disease. The study, “A Distinct Clinical Phenotype in Two Siblings with X-linked ... Read more

July 4, 2019July 4, 2019

World’s First Alport Stamp Is Macedonian Mom’s Latest Win for Rare Disease Patients

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It wasn’t until Gordana Loleska’s son David was 14 years old that doctors in their native North Macedonia diagnosed his kidney, vision, and hearing problems as Alport syndrome. Although she ... Read more

July 2, 2019July 2, 2019

Screening, Early Monitoring of Adrenal Glands Help Identify ALD in Newborns, Report Says

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Newborn screening for adrenoleukodystrophy (ALD), including the monitoring and treatment of poor function of the adrenal glands, can prevent the development of potential life-threatening symptoms, a case series study reports. ... Read more

June 26, 2019June 25, 2019

NORD Honors Industry, Patient Advocates at Rare Impact Awards Gala

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A violinist with vasculitis, two Texas politicians and a pharmaceutical company whose marijuana-derived therapy helps kids with Dravet syndrome were among winners of the 2019 Rare Impact Awards. Officials of ... Read more

June 25, 2019June 25, 2019

APOE4 Variant Linked to Poorer Neurological Outcomes in Boys with Cerebral ALD, Study Finds

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Carrying the APOE4 gene variant is associated with greater disease severity, and poorer neurological function, in boys with cerebral adrenoleukodystrophy (cALD), a study found. The study, “Association between APOE4 and biomarkers in ... Read more

June 20, 2019June 20, 2019

Eurordis Unveils Integrated-care Initiative for Rare Disease Patients

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Europe’s umbrella organization for 800 rare disease associations has developed a sweeping initiative to help the continent’s 30 million rare disease patients and their caregivers learn about their conditions, find ... Read more

June 18, 2019June 18, 2019

Analysis of Newborn Screening for X-ALD in Minnesota Reveals Under-reported Prevalence

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Results of the first year of newborn screening for X-linked adrenoleukodystrophy (X-ALD) in Minnesota showed that the birth prevalence of the disease is five times greater than previously anticipated, and ... Read more

June 17, 2019June 17, 2019

‘Rare Barometer’ Program Helps Eurordis Shape EU Rare Disease Policy

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People with rare diseases know that the right government policies can make a big difference in the quality of their own lives, and those of their caregivers. But most lawmakers ... Read more