[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"genetic-diseases-inborn\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:genetic-diseases-inborn":26},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,6,0,[8,58,101,132,162,196],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":4,"enrollmentInfo":4,"targetDuration":4,"studyType":18,"phases":4,"briefSummary":19,"conditions":20,"keywords":30,"overallStatus":49,"whyStopped":4,"lastUpdateSubmitDate":50,"lastUpdatePostDateStruct":51,"startDateStruct":4,"completionDateStruct":4,"leadSponsor":54,"locationsCount":57},"100612219","managed-access-program-for-del-zota-in-participants-with-dmd-mutations-amenable-to-exon-44-skipping-100612219",false,"NCT07250737","Managed Access Program for Del-zota in Participants With DMD Mutations Amenable to Exon 44 Skipping","Managed Access to Investigational Use of AOC 1044 in Participants With DMD Mutations Amenable to Exon 44 Skipping","Key Inclusion Criteria\n\nRollover Participants\n\n* Completed Study EXPLORE44-OLE Treatment Period (through W102)\n* No significant tolerability issues with AOC 1044\n\nNew (Non-Rollover) Participants\n\n* Permanently residing in the US and have a US primary health care provider\n* Documented dystrophin gene mutation that is amenable to exon 44 skipping\n* Age 2 or older at the time of consent\n* If previously treated with gene therapy for DMD, treatment and associated immunosuppressive regimen was more than 12 months before consent and in the opinion of the prescriber, participant has had an unsatisfactory treatment response\n\nKey Exclusion Criteria\n\nRollover Participants\n\n• Prescence of any new condition or worsening of existing condition that could affect participant's safety or ability to comply with the program requirements\n\nNew (Non-Rollover) Participants\n\n* Recently treated with or on a clinical study for another investigation drug\n* Serious respiratory or cardiac dysfunction, or nearing end of life\n* Screening laboratory parameters do not meet protocol requirements\n* History of multiple drug allergies or to any component of AOC 1044\n* Participants who discontinued early from the treatment period of EXPLORE44 or EXPLORE44-OLE","MALE","2 Years","EXPANDED_ACCESS","The purpose of this Managed Access Program is to allow access to delpacibart zotadirsen (AOC 1044) for eligible patients diagnosed with DMD mutations amenable to exon 44 skipping. The patient's Administering Physician should follow the suggested treatment guidelines and comply with all local health authority regulations.",[21,22,23,24,25,26,27,28,29],"Muscular Disorders, Atrophic","Muscular Diseases","Musculoskeletal Diseases","Neuromuscular Diseases","Nervous System Diseases","Genetic Diseases, Inborn","Genetic Diseases, X-Linked","Muscular Dystrophies","Muscular Dystrophy, Duchenne",[31,32,33,34,35,36,37,38,39,40,41,42,43,44,45,46,47,48],"Avidity","Avidity Biosciences","AOC 1044","AOC 1044-CS1","AOC 1044-CS2","EXPLORE44","EXPLORE44-OLE","Del-zota","delpacibart zotadirsen","DMD","exon skipping therapy","dystrophin","managed access","expanded access","pre-approval access","compassionate use","MAP","EAP","AVAILABLE","2026-06-26",{"date":52,"type":53},"2026-06-29","ACTUAL",{"name":55,"class":56},"Avidity Biosciences, Inc.","INDUSTRY",14,{"id":59,"slug":60,"hasResults":11,"nctId":61,"briefTitle":62,"officialTitle":63,"acronym":4,"eligibilityCriteria":64,"healthyVolunteers":11,"sex":65,"minAge":4,"maxAge":4,"enrollmentInfo":66,"targetDuration":4,"studyType":69,"phases":70,"briefSummary":73,"conditions":74,"keywords":82,"overallStatus":89,"whyStopped":4,"lastUpdateSubmitDate":90,"lastUpdatePostDateStruct":91,"startDateStruct":93,"completionDateStruct":95,"leadSponsor":97,"locationsCount":100},"100624357","phase-1-prenatal-transplantation-for-fetuses-with-fanconi-anemia-100624357","NCT07408583","Prenatal Transplantation for Fetuses With Fanconi Anemia","A Phase I\u002FII, Non-Randomized Study of the Safety and Efficacy of In Utero Hematopoietic Stem Cell Transplantation for the Treatment of Fanconi Anemia in Affected Fetuses","Inclusion Criteria:\n\n* Male or female fetuses from 19\\^0\u002F7 - 28\\^0\u002F7 weeks gestational age at time of transplant.\n* Diagnosed with FA by either chorionic villus sampling (CVS), or amniocentesis, or cordocentesis with abnormal fetal chromosomal breakage studies and\u002For FANC gene mutations when combined with at least one of the following: 1) abnormal chromosomal breakage result consistent with an FA diagnosis, 2) family history of a 1st degree relative with confirmed FA, or 3) congenital anomalies consistent with the diagnosis of FA on fetal ultrasound.\n* Parents must consent to fetal autopsy in the event of a fetal demise.\n* Adequate bone marrow harvest from maternal participant is a condition for inclusion.\n\nExclusion Criteria:\n\n* Fetal Participant Exclusion Criteria: Major anatomic or genetic anomalies that contributes a significant morbidity or mortality risk, and\u002For echocardiogram or ultrasound findings that indicate a high risk of fetal demise after fetal intervention. Fetuses with a normal chromosomal breakage study that determines they are likely FA negative.\n* Maternal Subject Exclusion Criteria: Maternal participants will be excluded if they have one or more morbidities that would preclude bone marrow harvest and fetal intervention including, but not limited to, morbid obesity with a body mass index greater than 40, significant maternal cardiac disease, mirror syndrome, clinically symptomatic maternal anemia, Preterm premature rupture of membranes (PPROM), Active Preterm labor (PTL), opioid use disorder, current use of anticoagulants.","ALL",{"count":67,"type":68},12,"ESTIMATED","INTERVENTIONAL",[71,72],"PHASE1","PHASE2","The investigators aim to evaluate the safety and efficacy of in utero hematopoietic stem cell transplantation (IUHSCT) for the treatment of fetuses diagnosed with Fanconi anemia (FA) during pregnancy.",[75,76,77,78,26,79,80,81],"Fanconi Anemia","Anemia, Hypoplastic, Congenital","Congenital Bone Marrow Failure Syndromes","Bone Marrow Failure Disorders","Congenital, Hereditary, and Neonatal Diseases and Abnormalities","DNA Repair-Deficiency Disorders","Cancer Predisposition Syndrome",[83,84,85,86,87,88],"cell transplants","grafts","stem cells","bone marrow","Fanconi anemia","prenatal","NOT_YET_RECRUITING","2026-06-12",{"date":92,"type":53},"2026-06-16",{"date":94,"type":68},"2028-01",{"date":96,"type":68},"2033-07",{"name":98,"class":99},"Agnieszka Czechowicz","OTHER",2,{"id":102,"slug":103,"hasResults":11,"nctId":104,"briefTitle":105,"officialTitle":106,"acronym":4,"eligibilityCriteria":107,"healthyVolunteers":11,"sex":65,"minAge":108,"maxAge":109,"enrollmentInfo":110,"targetDuration":4,"studyType":69,"phases":112,"briefSummary":114,"conditions":115,"keywords":4,"overallStatus":122,"whyStopped":4,"lastUpdateSubmitDate":123,"lastUpdatePostDateStruct":124,"startDateStruct":126,"completionDateStruct":128,"leadSponsor":130,"locationsCount":5},"100475948","phase-3-evaluation-of-efficacy-and-safety-of-a-single-dose-of-ctx001-in-participants-with-transfusion-dependent--thalassemia-and-severe-sickle-cell-disease-100475948","NCT05477563","Evaluation of Efficacy and Safety of a Single Dose of CTX001 in Participants With Transfusion-Dependent β-Thalassemia and Severe Sickle Cell Disease","A Phase 3b Study to Evaluate Efficacy and Safety of a Single Dose of Autologous CRISPR Cas9 Modified CD34+ Human Hematopoietic Stem and Progenitor Cells (CTX001) in Subjects With Transfusion-Dependent β-Thalassemia or Severe Sickle Cell Disease","Key Inclusion Criteria:\n\n* Participants with TDT and SCD:\n* Eligible for autologous stem cell transplant as per investigator's judgment.\n* Participants with TDT:\n* Diagnosis of TDT as defined by:\n* Documented homozygous β-thalassemia or compound heterozygous β-thalassemia including β-thalassemia\u002Fhemoglobin E (HbE). Participants can be enrolled based on historical data, but a confirmation of the genotype using the study central laboratory will be required before busulfan conditioning\n* History of at least 100 milliliter (mL)\u002Fkilograms (kg)\u002Fyear or 10 units\u002Fyear of packed red blood cells (RBC) transfusions in the prior 2 years before signing the consent or the last rescreening for patients going through re-screening\n* Participants with SCD:\n* Diagnosis of severe SCD as defined by:\n* Documented SCD genotypes\n* History of at least two severe VOCs events per year for the previous two years prior to enrollment\n\nKey Exclusion Criteria:\n\n* Participants with TDT and SCD:\n* A willing and healthy 10\u002F10 human leukocyte antigen (HLA)-matched related donor is available per investigator's judgement\n* Prior hematopoietic stem cell transplant (HSCT)\n* Clinically significant and active bacterial, viral, fungal, or parasitic infection as determined by the investigator\n* Participants with TDT:\n* Participants with associated α-thalassemia and \\>1 alpha deletion, or alpha multiplications\n* Participants with sickle cell β-thalassemia variant\n* Participants with SCD:\n* History of untreated moyamoya syndrome or presence of moyamoya syndrome at screening\n\nOther protocol defined Inclusion\u002FExclusion criteria may apply.","12 Years","35 Years",{"count":111,"type":68},26,[113],"PHASE3","This is a single-dose, open-label study in participants with transfusion-dependent β-thalassemia (TDT) or severe sickle cell disease (SCD). The study will evaluate the safety and efficacy of autologous CRISPR-Cas9 modified CD34+ human hematopoietic stem and progenitor cells (hHSPCs) using CTX001.",[116,117,118,26,119,120,121],"Beta-Thalassemia","Thalassemia","Hematologic Diseases","Hemoglobinopathies","Sickle Cell Disease","Sickle Cell Anemia","RECRUITING","2026-03-18",{"date":125,"type":53},"2026-03-23",{"date":127,"type":53},"2022-08-02",{"date":129,"type":68},"2027-06-09",{"name":131,"class":56},"Vertex Pharmaceuticals Incorporated",{"id":133,"slug":134,"hasResults":11,"nctId":135,"briefTitle":136,"officialTitle":136,"acronym":137,"eligibilityCriteria":138,"healthyVolunteers":11,"sex":65,"minAge":139,"maxAge":4,"enrollmentInfo":140,"targetDuration":4,"studyType":142,"phases":4,"briefSummary":143,"conditions":144,"keywords":146,"overallStatus":89,"whyStopped":4,"lastUpdateSubmitDate":152,"lastUpdatePostDateStruct":153,"startDateStruct":155,"completionDateStruct":157,"leadSponsor":159,"locationsCount":161},"100629054","health-economic-evaluation-of-non-invasive-prenatal-exclusion-diagnosis-100629054","NCT07469657","Health Economic Evaluation of Non-Invasive Prenatal Exclusion Diagnosis","PRENATSAFE","Inclusion Criteria:\n\n* Couple aged over 18 years\n* Ongoing pregnancy of at least 7 weeks gestational age\n* Requesting, within clinical care, invasive prenatal diagnosis or PCR-based NIPD for a particularly severe monogenic disorder, with indication confirmed by a Multidisciplinary Prenatal Diagnosis Center (CPDPN)\n* Eligible for exclusion diagnosis\n* Causative gene covered by the Agilent V8 exome capture kit\n* Affiliated with the national general social security system\n* Informed consent obtained from the pregnant woman and her partner\n\nExclusion Criteria:\n\n* Prenatal diagnosis request not approved by a Multidisciplinary Prenatal Diagnosis Center (CPDPN)\n* Disorder not analyzable by next-generation sequencing (e.g., triplet repeat expansions, sequence homology)\n* Woman carrying the pathogenic variant\n* Woman or partner deprived of liberty, under guardianship or curatorship\n* Index case other than the father, a child, or a fetus from a previous pregnancy within the couple.","18 Years",{"count":141,"type":68},300,"OBSERVATIONAL","Since the discovery of a small fraction of circulating cell-free fetal DNA (ccffDNA) in the blood of the mother, non-invasive prenatal diagnosis (NIPD) techniques using a simple blood sample have been developed to 1) screen for chromosomal abnormalities, 2) diagnose fetal sex, and 3) detect variants not carried by the mother (exclusion NIPD by PCR).\n\nExclusion NIPD by PCR is currently available for certain common variants, but developing it for each variant takes 3-6 weeks per center. The development process for PCR NIPD is lengthy and costly for each variant tested, thereby restricting access to this technique. In practice, this technique is not widely available to couples at risk of transmitting a severe monogenic disease in France, due to the large number of different genes and multiple variants of a given gene.\n\nNext-generation sequencing (NGS) is based on the simultaneous, parallel execution of millions of sequencing reactions, enabling the same nucleotide sequence to be sequenced hundreds of times. It provides qualitative information on the nature of the sequenced base, as well as quantitative information on the number of times the base has been sequenced (reads). Although it only allows for the analysis of around 2% of the entire genome, NGS sequencing of the exome corresponds to almost all the exons of the 22,000 or so genes in our genome. However, this generates a large amount of data, leading to additional costs.\n\nSince its widespread adoption by diagnostic laboratories, some teams have developed an NGS-based NIPD for the exclusion of a pathogenic variant. It allows the analysis of multiple pathogenic variants without requiring an additional development phase. They have demonstrated that NGS-based NIPD is a robust and reliable technology, but one that incurs additional reagent costs.\n\nIn France, 1,700 to 1,800 prenatal diagnostic tests (PND) for monogenic diseases are performed each year due to family history. Between 35 and 40% of couples undergoing invasive PND could benefit from NIPD by NGS, as proposed in the PrenatSafe project. The increased availability of NIPD, whether by PCR or NGS, could also affect couples' demand in the long term. In France, the introduction of NIPD by NGS is likely to lead to an increase in requests for NIPD, as many couples with a low risk of recurrence (in the case of de novo mutations) will probably opt for it due to its lack of iatrogenicity.\n\nThe rapid and widespread rise of NIPD by NGS, made possible by the use of a standardized, generalizable technique such as NGS, will transform our practices throughout the country. The PrenatSafe project therefore aims to evaluate the cost\u002Fbenefit ratio of NIPD by NGS compared to the current standard procedure: NIPD by PCR when performed in clinical practice or PND by invasive sampling (trophoblast biopsy or amniocentesis), using an automated, standardized NGS technique involving exome sequencing, which covers almost all indications for exclusion NIPD.\n\nThis project is the first cost-consequence analysis of prospective exome-based NIPD, using a single standardized technique. The aim is to translate this innovative technology into routine practice if it proves beneficial and economically viable. Exome-based NIPD for exclusion can be fully automated, from ccfDNA extraction to sequencing. This reduces the risk of human error and brings turnaround times in line with the requirements of prenatal diagnosis. If successful, exome-based NIPD would become an earlier alternative to invasive PND without increasing the risk of fetal loss. It would be available for a very large number of indications and could easily be transferred to other prenatal diagnosis centers in France.",[145,26],"Monogenic Diseases",[147,148,149,150,151],"Prenatal Diagnosis (PND)","Non-Invasive Prenatal Diagnosis (NIPD)","Circulating Cell-Free Fetal DNA (cffDNA)","Next Generation Sequencing (NGS)","Cost and Outcomes","2026-03-10",{"date":154,"type":53},"2026-03-13",{"date":156,"type":68},"2026-03",{"date":158,"type":68},"2029-03",{"name":160,"class":99},"Assistance Publique - Hôpitaux de Paris",1,{"id":163,"slug":164,"hasResults":11,"nctId":165,"briefTitle":166,"officialTitle":167,"acronym":168,"eligibilityCriteria":169,"healthyVolunteers":11,"sex":65,"minAge":170,"maxAge":4,"enrollmentInfo":171,"targetDuration":4,"studyType":69,"phases":172,"briefSummary":173,"conditions":174,"keywords":184,"overallStatus":122,"whyStopped":4,"lastUpdateSubmitDate":187,"lastUpdatePostDateStruct":188,"startDateStruct":190,"completionDateStruct":192,"leadSponsor":194,"locationsCount":5},"100586616","phase-3-a-study-to-learn-about-the-safety-and-efficacy-of-the-drug-oleogel-s10-in-japanese-patients-with-epidermolysis-bullosa-100586616","NCT06917690","A Study to Learn About the Safety and Efficacy of the Drug Oleogel-S10 in Japanese Patients With Epidermolysis Bullosa","Multi-centeR, Open-label Study to EValuate the Safety, Efficacy, and Pharmacokinetics of FIlsuVEz (Oleogel-S10) in Japanese Subjects With Epidermolysis Bullosa (REVIVE)","REVIVE","Inclusion Criteria:\n\n1. Male or female aged ≥ 21 days\n2. Confirmed diagnosis of either JEB or DEB\n3. Both biological parents and all 4 grandparents of Japanese descent\n4. At least 3 EB wounds that meet the following criteria at the time of enrollment:\n\n   * All are located outside of the anogenital region\n   * All are distinguishable from any other wounds on the subject's body (separated by a minimum of 5 cm)\n   * At least one has been present for a minimum of 21 days but less than 9 months AND is 10 cm2 to 50 cm2 in size\n   * At least two have been present for a minimum of 21 days but less than 9 months AND\u002FOR are 10 cm2 to 50 cm2 in size\n5. A female subject must meet one of the following criteria:\n\n   * If of childbearing potential, she must:\n\n     1. Have a negative pregnancy test result at Screening and Baseline Visits, AND\n     2. Agree to use one of the following highly reliable methods of contraception from the day of the informed consent signature until the day after the last Oleogel- S10 application. The following methods are acceptable:\n\n        * Placement of an intrauterine device (IUD) or intrauterine releasing system (IUS)\n        * Combined (both estrogen and progestogen) hormonal contraception (oral) associated with inhibition of ovulation, supplemented with a barrier method (preferably male condom)\n        * Bilateral tubal occlusion\n        * Sexual abstinence, defined as refraining from heterosexual intercourse during the entire study period\n        * Partner vasectomy, provided that the partner is the sole sexual partner and has received medical verification of the surgical success\n   * Be of non-childbearing potential, defined as one of the following:\n\n     * Pre-menarche, OR\n     * Post-menopausal (12 consecutive months of amenorrhea without an alternative medical cause), OR\n     * Permanently sterile following hysterectomy, bilateral salpingectomy, or bilateral oophorectomy (supporting evidence required)\n6. Subject and\u002For subject's legal representative has been informed about the study, has read and understood the information provided, and has given written informed consent\n7. Subject and\u002For subject's legal representative is able and willing to follow all study procedures and instructions\n\nExclusion Criteria:\n\n1. Hypersensitivity to Oleogel-S10 or any of its excipients\n2. Diagnosis of EB subtypes simplex or Kindler EB\n3. Receipt of systemic antibiotics for wound-related infections within 7 days prior to enrollment\n4. Receipt of systemic or topical (on EB wounds) steroids within 30 days prior to enrollment Exceptions: Inhaled, ophthalmic, or mucosal applications, such as budesonide suspension for esophageal strictures\n5. Receipt of immunosuppressive therapy or cytotoxic chemotherapy within 60 days prior to enrollment Note: Dupilumab to manage pruritis is allowed if the subject has been on a stable dose for more than 3 months prior to baseline\n6. Receipt of systemic gene therapy for the treatment of inherited EB\n7. Receipt of short-acting stem cell therapy (infusion of Muse cells, allogeneic adipocyte-derived MSC sheet (topically applied), TEMCELL (allogeneic MSCs, subcutaneous injection)) within 6 months prior to study enrollment\n8. Receipt of topical gene therapy for the treatment of inherited EB (e.g., beremagene geperpavec) within 3 months prior to enrollment\n9. Receipt of a JACE® skin graft on any of the target wounds\n10. Current and\u002For former malignancy, including skin malignancies such as basal cell carcinoma and squamous cell carcinoma\n11. Females: Pregnant or lactating, or of childbearing potential with a fertile male partner and unwilling to use a highly reliable method of contraception from the informed consent signature until study participation ends\n12. Enrollment in any other interventional study or treated with any other investigational drug for any disease within 4 weeks prior to enrollment\n13. Presence of any factor in the subject and\u002For legal representative that could interfere with study compliance, such as the ability to attend the scheduled study visits or to properly manage the dressing changes at home","21 Days",{"count":5,"type":68},[113],"The goal of this clinical trial is to learn if Oleogel-S10 gel works to treat skin wounds from two types of inherited epidermolysis bullosa (EB): junctional EB (JEB) or dystrophic EB (DEB) in the Japanese population. Children and adults may participate. The trial also looks at the safety of Oleogel-S10 gel. The main questions it will answer are:\n\n* Does Oleogel-S10 gel close wounds from JEB or DEB within 45 days or reduce the size of the wounds?\n* Are there any medical problems when using Oleogel-S10 gel?\n* How much of the drug ends up in your blood?\n\nThe study has 2 parts. In Part 1, participants will:\n\n* Apply Oleogel-S10 gel to the EB wound dressings at least once every 4 days for 45 days.\n* Visit the clinic once every 2 weeks for checkups and tests. If participants complete Part 1, they may participate in Part 2 if they choose to. In Part 2, participants will continue to receive Oleogel-S10 gel until the product is available to buy in Japan or until the trial is stopped by the company.",[175,176,177,178,179,180,181,182,26,183],"Epidermolysis Bullosa","Junctional Epidermolysis Bullosa","Epidermolysis Bullosa, Dystrophic","Epidermolysis Bullosa, Junctional","Skin Abnormalities","Connective Tissue Disease","Collagen Diseases","Skin Diseases","Congenital Abnormalities",[185,186],"Filsuvez","Birch Bark extract","2025-12-18",{"date":189,"type":53},"2025-12-22",{"date":191,"type":53},"2025-04-18",{"date":193,"type":68},"2029-09",{"name":195,"class":56},"Chiesi Farmaceutici S.p.A.",{"id":197,"slug":198,"hasResults":11,"nctId":199,"briefTitle":200,"officialTitle":201,"acronym":4,"eligibilityCriteria":202,"healthyVolunteers":203,"sex":65,"minAge":139,"maxAge":204,"enrollmentInfo":205,"targetDuration":4,"studyType":69,"phases":207,"briefSummary":209,"conditions":210,"keywords":4,"overallStatus":122,"whyStopped":4,"lastUpdateSubmitDate":218,"lastUpdatePostDateStruct":219,"startDateStruct":221,"completionDateStruct":223,"leadSponsor":225,"locationsCount":100},"100542053","effect-of-large-neutral-amino-acids-in-adults-with-classical-phenylketonuria-100542053","NCT06337864","Effect of Large Neutral Amino Acids in Adults With Classical Phenylketonuria","Safety and Efficacy of Treatment With Large Neutral Amino Acids in Patients With Classical Phenylketonuria","Patients ≥ 18 years of age with Classical PKU molecularly confirmed via the finding of two pathogenic variants in the phenylalanine hydroxylase (PAH) gene and\u002For historical evidence of Phe concentrations ≥1200 μmol\u002FL in the medical history\n\nInclusion Criteria:\n\n* Treatment initiation within the first month of life\n* Intelligence quotient over 84, based upon the baseline neuropsychological evaluation\n* Conventional dietary treatment up to minimum 15 years of age\n* Signed informed consent\n* Willing and able to comply with the protocol and study procedures\n\nExclusion Criteria:\n\n* Unable or unwilling to adhere to the requirements of the study\n* A female who is pregnant or breastfeeding or planning to get pregnant during the study period\n* Concomitant medication that may interfere with the PET analysis, as judged by the investigator\n* A serious neuropsychiatric disease that could interfere with the subject's ability to participate in the study at the discretion of the investigator\n* Concomitant treatment with BH4 supplementation (sapropterin) or Pegvaliase-pqpz (PALYNZIQ)\n* Failing to submit at least one blood Phe home sample during the year before study initiation\n* Standard MRI contraindications\n* Body weight over 110 kg",true,"50 Years",{"count":206,"type":68},30,[208],"NA","The overall aim of this study is to evaluate LNAA treatment as a potential alternative to conventional dietary treatment for PKU. This study investigates the effects of LNAA treatment compared to the classic dietary treatment on cerebral dopamine synthesis in patients with classic PKU. We will assess LNAAs effectiveness on neurotransmitter synthesis, cognitive function, mental health, and safety, compared to the standard diet.",[211,212,213,26,214,215,216,217],"Brain Diseases","Brain Diseases, Metabolic","Brain Diseases, Metabolic, Inborn","Metabolism, Inborn Errors","Amino Acid Metabolism, Inborn Errors","Metabolic Disease","Phenylketonurias","2025-04-02",{"date":220,"type":53},"2025-04-06",{"date":222,"type":53},"2024-11-01",{"date":224,"type":68},"2026-09-30",{"name":226,"class":99},"Rigshospitalet, Denmark"]