EuropeResearch and clinical trials
Gitelman syndrome data on 587 patients from Europe: fatigue and salt craving stand out
Data were collected on 587 patients with Gitelman syndrome from 13 countries in Europe.
Peer-reviewed publicationGitelman
Rare Diseases
News
New treatments, research and health policy from around the world and from Türkiye. Each with its source and level of evidence.
106 updates · page 5/6
GlobalResearch and clinical trials
Stem cell transplant in STAT3 hyper-IgE syndrome: five-year survival of 93% in 41 patients
Worldwide, 41 patients with hyper-IgE syndrome who had a stem cell transplant were studied.
Peer-reviewed publicationHyper-IgE (Job)
GlobalResearch and clinical trials
Inhaled molgramostim improved gas transfer in the lungs in autoimmune PAP in a phase 3 trial
The trial included 164 patients with autoimmune PAP.
Peer-reviewed publicationPAP
FranceResearch and clinical trials
Balance problems common in children with Waardenburg syndrome: higher risk with SOX10 changes
In Paris, the balance system of children with Waardenburg syndrome and hearing loss was studied.
Peer-reviewed publicationWaardenburg
USAResearch and clinical trials
Adding cholic acid to cholesterol studied in 8 patients with Smith-Lemli-Opitz syndrome
In SLOS, the body cannot make enough cholesterol; treatment is cholesterol supplementation.
Peer-reviewed publicationSLOS
GlobalResearch and clinical trials
Rugonersen found safe in a phase 1 study in Angelman syndrome
A phase 1 study of a drug called rugonersen was carried out with 61 children with Angelman syndrome.
Peer-reviewed publicationAngelman
USAResearch and clinical trials
New center launched for individualized gene-editing therapies for children
The Chan Zuckerberg Initiative and the Innovative Genomics Institute announced that they have set up a new center.
Official statement or regulation
GlobalResearch and clinical trials
Gene therapy improved hearing in 10 patients with congenital OTOF-related hearing loss
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.
Peer-reviewed publicationOTOF
USAResearch and clinical trials
Gene therapy improved vision in 3 adults with Leber congenital amaurosis caused by the LCA5 gene
In the USA, a gene therapy was tested for congenital blindness due to the LCA5 gene.
Peer-reviewed publicationLCA
GlobalResearch and clinical trials
Stem cell transplant in 21 children with alpha-mannosidosis: no deaths, some findings decreased
In an international study that included Ankara, 21 children who had a stem cell transplant for alpha-mannosidosis were studied.
Peer-reviewed publicationAlpha-mannosidosis
USAResearch and clinical trials
Intravenous trehalose did not slow ALS in a phase 2/3 study
Trehalose was tested in the HEALEY ALS study, carried out at 60 centers in the USA.
Peer-reviewed publicationALS
GlobalResearch and clinical trials
Oral iptacopan in PNH: final 48-week results of two phase 3 studies published
In two phase 3 studies, adults with PNH took oral iptacopan for 48 weeks.
Peer-reviewed publicationPNH
USAResearch and clinical trials
Bevacizumab in NF2: greater shrinkage seen in nerve tumors other than those of the hearing nerve
In the USA, bevacizumab was given for two years to patients with NF2.
Peer-reviewed publicationNF2
USAResearch and clinical trials
Positive early results reported in the first patient treated with prime editing
The first patient with chronic granulomatous disease received an experimental treatment coded PM359, in which a gene error in the patient's own stem cells was corrected with prime editing.
Preliminary resultCGD
EuropeResearch and clinical trials
In pulmonary sarcoidosis, methotrexate was not inferior to prednisone as first treatment
A study comparing first treatment options in pulmonary sarcoidosis has been published.
Peer-reviewed publicationSarcoidosis
USAResearch and clinical trials
Gene-editing therapy custom-designed for a single baby used for the first time
In the USA, a baby named KJ with severe CPS1 deficiency received an individualized base-editing therapy.
Peer-reviewed publicationCPS1 deficiency
EgyptResearch and clinical trials
87 children with Glanzmann thrombasthenia in Egypt: in more than half, the parents are related
In Egypt, 87 children with Glanzmann thrombasthenia from several centers were studied.
Peer-reviewed publicationGlanzmann
ThailandResearch and clinical trials
Ablation reduced dangerous rhythm episodes in Brugada syndrome
In Thailand, a trial was carried out in patients with Brugada syndrome who had an implanted shock device (defibrillator).
Peer-reviewed publicationBrugada
EuropeResearch and clinical trials
Stem cell gene therapy in MLD: long-term benefit in children treated before symptoms began
Long-term results of atidarsagene autotemcel, a stem cell gene therapy for metachromatic leukodystrophy, have been published.
Peer-reviewed publicationMLD
USAResearch and clinical trials
Intensive care data in babies with Treacher Collins syndrome: 103 babies studied
Intensive care records from children's hospitals in the USA were reviewed.
Peer-reviewed publicationTreacher Collins