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.
172 updates · page 1/9
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
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
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
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
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
EUNew treatments and approvals
Trofinetide approved in the EU for behavioral symptoms of Rett syndrome
On August 20, 2026, the European Commission approved trofinetide for Rett syndrome.
Official drug approvalRett
USANew treatments and approvals
Accelerated approval for pariglasgene brecaparvovec, first gene therapy for GSD type Ia
Through the accelerated pathway, the FDA has approved pariglasgene brecaparvovec for glycogen storage disease type Ia.
Official drug approvalGSD Ia
USAResearch and clinical trials
Intravenous arginine showed no benefit for sickle cell pain crises in a phase 3 trial
The STArT study, published in JAMA, examined arginine in sickle cell pain crises.
Peer-reviewed publicationSickle cell
USAResearch and clinical trials
Ruxolitinib-based treatment for HLH in children found safe in a small study
In the USA, children with HLH (hemophagocytic lymphohistiocytosis) were given a treatment that includes ruxolitinib taken by mouth.
Peer-reviewed publicationHLH