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.
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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
TürkiyeSGK and reimbursement
SGK adds a drug for a rare disease affecting the optic nerve to reimbursement
A drug used for a rare disease affecting the optic nerve has been added to reimbursement coverage.
Official statement or regulation
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
EUHealth policy
European Parliament health committee calls for a rare disease action plan
The European Parliament's Public Health Committee adopted, with 33 votes, a report calling on the European Commission to draw up an action plan for rare diseases.
Official statement or regulation
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
GlobalHealth policy
International Pediatric Nephrology Association publishes diagnosis and treatment recommendations for aHUS in children
The International Pediatric Nephrology Association published its recommendations for diagnosing and treating atypical HUS in children.
Peer-reviewed publicationaHUS
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)
EUNew treatments and approvals
Leriglitazone approved in the EU for boys aged 2-12 with cerebral adrenoleukodystrophy
In Europe, leriglitazone, taken by mouth, was authorized for cerebral adrenoleukodystrophy.
Official drug approvalX-ALD
USANew treatments and approvals
First drug for balance problems in ataxia-telangiectasia, levacetylleucine, approved in the USA
The US Food and Drug Administration (FDA) approved levacetylleucine for balance and walking problems in ataxia-telangiectasia (A-T).
Official drug approvalA-T
USANew treatments and approvals
Rebisufligene etisparvovec receives FDA approval as first treatment for Sanfilippo type A
The FDA has approved rebisufligene etisparvovec for children with Sanfilippo syndrome type A (MPS IIIA).
Official drug approvalMPS IIIA
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