South KoreaResearch and clinical trials
86 LAM patients from South Korea: lung function is mostly preserved at diagnosis
In South Korea, 86 women with LAM from 20 centers were studied.
Peer-reviewed publicationLAM
Rare Diseases
News
New treatments, research and health policy from around the world and from Türkiye. Each with its source and level of evidence.
203 updates · page 1/11
TürkiyeResearch and clinical trials
Children with PCD at Hacettepe: lung function values lower in those with Pseudomonas in the lungs
Hacettepe University reviewed the records of 290 patients with PCD.
Peer-reviewed publicationPCD
InternationalResearch and clinical trials
Experimental oral RIPK1 inhibitor showed no benefit in ALS in a phase 2 trial
The HIMALAYA study, published in The Lancet Neurology, examined an experimental drug in patients with ALS (amyotrophic lateral sclerosis).
Peer-reviewed publicationALS
GlobalResearch and clinical trials
Garetosmab markedly reduced new bone formation in FOP in a phase 3 trial
The trial included 63 adults from 16 countries.
Peer-reviewed publicationFOP
InternationalResearch and clinical trials
In Hunter syndrome, siblings who started enzyme therapy in infancy did better
Records of 19 sibling pairs with Hunter syndrome were compared.
Peer-reviewed publicationMPS II
TürkiyeResearch and clinical trials
Guillain-Barré after COVID-19 in Istanbul: the type affecting the nerve sheath was more common
A multicenter study in Istanbul compared patients with Guillain-Barré syndrome.
Peer-reviewed publicationGuillain-Barré
GlobalResearch and clinical trials
Model developed to predict 2-year relapse risk in ANCA-associated vasculitis
Researchers re-examined the data from a large drug study.
Peer-reviewed publicationGPA (Wegener's)
ChinaResearch and clinical trials
Oral DL-3-n-butylphthalide showed a small difference in ataxia scores in a placebo-controlled SCA3 study
A one-year, placebo-controlled study in patients with SCA3 was carried out in China.
Peer-reviewed publicationSCA3
TürkiyeResearch and clinical trials
Bursa study looks at how young people with CAH move from pediatric to adult doctors
At Bursa Uludağ University, the move of 29 young people with CAH (congenital adrenal hyperplasia) from pediatric to adult doctors was studied.
Peer-reviewed publicationCAH
TürkiyeResearch and clinical trials
More than a third of 104 PNH patients receiving eculizumab in Türkiye reported severe fatigue
A face-to-face survey was conducted with 104 PNH patients at 18 centers in Türkiye.
Peer-reviewed publicationPNH
GlobalResearch and clinical trials
Subcutaneous efgartigimod showed no added benefit over corticosteroids in pemphigus in a phase 3 trial
The trial included 222 adults with moderate-to-severe pemphigus.
Peer-reviewed publicationPemphigus vulgaris
GlobalResearch and clinical trials
Recombinant ADAMTS13 enzyme in congenital TTP: final results of a phase 3 study published
A total of 48 people aged 3–68 with congenital TTP took part in the study.
Peer-reviewed publicationTTP
GlobalResearch and clinical trials
Oral oveporexton increased wakefulness in narcolepsy type 1 in two phase 3 trials
A total of 273 people took part in two phase 3 trials.
Peer-reviewed publicationNarcolepsy type 1
TürkiyeResearch and clinical trials
200 patients with early-stage pulmonary sarcoidosis in Istanbul: the disease flared up again in about one in five
Koç University followed 200 patients diagnosed by biopsy for up to 15 years.
Peer-reviewed publicationSarcoidosis
USAResearch and clinical trials
Oral gildeuretinol in Stargardt disease: growth of retinal damage slowed slightly in a two-year study
A two-year, placebo-controlled study was carried out at 7 centers in the USA.
Peer-reviewed publicationStargardt
TürkiyeResearch and clinical trials
40 infants with infantile spasms in Ankara: oral cortisone and ACTH gave similar results
Gazi University studied 40 infants with infantile spasms.
Peer-reviewed publicationWest syndrome
TürkiyeResearch and clinical trials
Brain MRI findings in more than half of children with Noonan syndrome in Ankara
Ankara University reviewed the brain MRIs of children with Noonan syndrome.
Peer-reviewed publicationNoonan
GlobalResearch and clinical trials
Data on the first 74 patients published from an international study following the course of Leigh syndrome
People with Leigh syndrome are followed regularly at five centers, every 3-6 months.
Peer-reviewed publicationLeigh syndrome
TürkiyeResearch and clinical trials
95 adults with CVID in Konya: one third have a hormone gland disease
A total of 95 adults with CVID followed in Konya were studied.
Peer-reviewed publicationCVID
TürkiyeResearch and clinical trials
Congenital myasthenic syndrome in 133 children from 28 centers in Türkiye: diagnosis delayed by 2 years on average
In Türkiye, 133 children from 28 centers were studied.
Peer-reviewed publicationCongenital myasthenia