Rare Disease Advisor

RareDiseaseAdvisor.com stands out as the leading online platform for news, insights, and resources aimed at healthcare providers treating rare diseases. This site focuses on filling the gaps in information for medical professionals who are looking for up-to-date knowledge on the rare conditions they encounter, offering original, reliable, and engaging content.

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Children With Achondroplasia May Have Altered Resting Breathing Patterns

1 day ago | rarediseaseadvisor.com | Juliette Siegfried

Children with achondroplasia showed slightly altered breathing patterns compared to healthy children when sitting and lying down, according to results published in Health Science Reports. A feasibility assessment of the use of opto-electronic plethysmography to determine thoraco-abdominal volumes at rest in children with achondroplasia showed mostly normal breathing patterns but alterations when sitting and lying down.
Limb Lengthening With TIMNs Improves Functionality and QoL in Achondroplasia

1 day ago | rarediseaseadvisor.com | Juliette Siegfried

The use of telescopic intramedullary nails (TIMNs) for lower limb lengthening in patients with achondroplasia improves functionality and health-related quality of life (HRQoL), according to results published in Revista Española de Cirugía Ortopédica y Traumatología [The Spanish Journal of Orthopedic Surgery and Traumatology].
Vosoritide May Improve Orthopedic Deformities in Achondroplasia

2 days ago | rarediseaseadvisor.com | Juliette Siegfried

One year of treatment with vosoritide has been shown to improve spinal and lower limb misalignment in children with achondroplasia, according to results published in the Journal of Pediatric Orthopedics. A prospective study of children with achondroplasia receiving vosoritide found that, in addition to increased longitudinal growth, they observed changes to the standing alignment of the lower limbs and spine.
Heart Rate Variability and Heart Rate Correlate With Disease Severity in PAH

2 days ago | rarediseaseadvisor.com | Juliette Siegfried

Noninvasively measured heart rate variability (HRV), including standard deviation of R-to-R intervals, could serve as a marker for disease severity in pulmonary arterial hypertension (PAH), according to results published in Pulmonary Circulation. An examination of the association between HRV and PAH disease severity revealed a linear correlation between HRV and right ventricular structure and function.
Lenalidomide Is Therapeutically Beneficial but Negatively Affects HRQoL in CLL

3 days ago | rarediseaseadvisor.com | Juliette Siegfried

Lenalidomide consolidation therapy in patients with chronic lymphocytic leukemia (CLL) improves disease control and progression-free survival but negatively affects health-related quality of life (HRQoL), according to results published in BMC Cancer. An analysis of data from French patients in the CLL6 RESIDUUM trial showed overall good health in patients receiving lenalidomide but more occurrence of diarrhea and dyspnea, as well as lower social functioning at 18 months.
Case Report: Diagnosing Infiltration of the Thyroid in CLL

3 days ago | rarediseaseadvisor.com | Juliette Siegfried

Thyroid involvement is rare in chronic lymphocytic lymphoma (CLL), and its diagnosis and management can be challenging, according to a case report published in Diagnostic Cytopathology. The report highlighted the use of fine-needle aspiration biopsy to confirm the diagnosis of thyroid lymphoma in this case. “Primary thyroid lymphomas account for approximately 1%–5% of all thyroid malignancies, with CLL representing about 3%–4% of these cases,” the authors wrote.
Ongoing Phase 3 Clinical Trial Evaluates IV Zaltenibart for Patients With PNH

3 days ago | rarediseaseadvisor.com | Sheila Jacobs

Enrollment is under way to recruit patients for a phase 3 study designed to assess intravascular (IV) treatment with zaltenibart among individuals with paroxysmal nocturnal hemoglobinuria (PNH), according to a recent press release from Omeros Corporation.
MECOM Variant Linked to Severe Neonatal Thrombocytopenia

3 days ago | rarediseaseadvisor.com | Sheila Jacobs

Mutations in the MECOM gene have been associated with severe neonatal thrombocytopenia, including disorders such as fetal and neonatal alloimmune thrombocytopenia (FNAIT) and MECOM-associated syndrome. A case report and a literature review on the topic were conducted, with findings published recently in the Journal of Medical Case Reports. The case study depicted a female neonate of Hans-Chinese ethnicity who was born at 36 weeks’ gestational age.
Etranacogene Dezaparvovec Shows Efficacy, Safety in Hemophilia B

3 days ago | rarediseaseadvisor.com | Sheila Jacobs

A clinical trial studying etranacogene dezaparvovec gene therapy in patients with hemophilia B demonstrated that the treatment has a favorable efficacy and safety profile, including increased factor IX (FIX) activity maintained over 5 years. A phase 2b, multicenter, open-label, single-arm, single-dose, 5-year study (NCT03489291) was conducted, with findings published recently in Blood Advances.
Tell Me Something About MS I Don’t Know

6 days ago | rarediseaseadvisor.com | Ed Tobias

Have you ever looked at a research paper and thought, “Why in the world did they waste time and money on that?” I saw one of those reports the other day about multiple sclerosis (MS) fatigue and life quality. The news was headlined “Fatigue significantly contributes to impaired well-being in MS.”The Finnish researchers studied data from more than 500 patients with MS.