Rare Diseases
New treatments, research and health policy from around the world and from Türkiye. Each with its source and level of evidence.
113 updates · page 5/6
IndiaResearch and clinical trials
In India, researchers reviewed the results of 18 children with tyrosinemia type 1 who were diagnosed late.
EuropeDiagnosis and screening
In Italy, about 2 million newborns were screened between 2019 and 2023.
GlobalResearch and clinical trials
A total of 70 patients from North America, Europe and the Middle East were studied.
USAResearch and clinical trials
In the USA, early treatment with vigabatrin was tested in babies with tuberous sclerosis.
EuropeResearch and clinical trials
Data were collected on 587 patients with Gitelman syndrome from 13 countries in Europe.
GlobalResearch and clinical trials
Worldwide, 41 patients with hyper-IgE syndrome who had a stem cell transplant were studied.
GlobalResearch and clinical trials
The trial included 164 patients with autoimmune PAP.
FranceResearch and clinical trials
In Paris, the balance system of children with Waardenburg syndrome and hearing loss was studied.
USAResearch and clinical trials
In SLOS, the body cannot make enough cholesterol; treatment is cholesterol supplementation.
GlobalResearch and clinical trials
A phase 1 study of a drug called rugonersen was carried out with 61 children with Angelman syndrome.
GlobalDiagnosis and screening
Researchers pooled the results of 41 studies.
GlobalResearch and clinical trials
In a study run by the Karolinska Institutet and centers in China, 10 patients aged 1–24 years received a gene therapy delivering a functional OTOF gene into the inner ear.
USAResearch and clinical trials
In the USA, a gene therapy was tested for congenital blindness due to the LCA5 gene.
GlobalResearch and clinical trials
In an international study that included Ankara, 21 children who had a stem cell transplant for alpha-mannosidosis were studied.
USAResearch and clinical trials
Trehalose was tested in the HEALEY ALS study, carried out at 60 centers in the USA.
GlobalResearch and clinical trials
In two phase 3 studies, adults with PNH took oral iptacopan for 48 weeks.
USAResearch and clinical trials
In the USA, bevacizumab was given for two years to patients with NF2.
SlovakiaDiagnosis and screening
In Slovakia, 37 patients with a widened inner ear canal or Pendred syndrome were studied.
EuropeResearch and clinical trials
A study comparing first treatment options in pulmonary sarcoidosis has been published.
USAResearch and clinical trials
In the USA, a baby named KJ with severe CPS1 deficiency received an individualized base-editing therapy.