Clinical trials: Genetic Diseases, X-Linked
Adrenoleukodystrophy
Newborn Screening for Adrenoleukodystrophy
To test if the routine newborn screening dried blood spots can be used to test if elevation of C26:0 lysophosphatidylcholine (C26:0-lyso-PC), a status indicating adrenoleukodystrophy (ALD)
- Trial name
- NCT02952482
- Testing
- newborns testing for ALD
- Where
- Taiwan
- Volunteers
- 45,796 people, healthy volunteers welcome
- Sponsor
- National Taiwan University Hospital
Fabry Disease
Open-Label Extension Study of the Long-Term Effects of Migalastat HCL in Patients With Fabry Disease
This is an open-label extension study intended to provide continued treatment with migalastat hydrochloride (HCl) for participants with Fabry disease who completed treatment of a previous migalastat HCl study.
- Trial name
- NCT02194985
- Testing
- migalastat HCl 150 mg
- Where
- 28 sites in United States, Argentina and 13 more
- Volunteers
- 84 people
- Sponsor
- Amicus Therapeutics
Haemophilia A, Haemophilia B
A Study of the Impact of Hemophilia and Its Treatment on Brain Development, Thinking and Behaviour in Children With Hemophilia
The Hemophilia Growth and Development Study (HGDS) nearly 25 years ago showed haemophilia and HIV impacted brain development, thinking, and behaviour in children and adolescents.
- Trial name
- eTHINK (NCT03660774)
- Testing
- No treatment given
- Where
- 22 sites in United States
- Volunteers
- 563 people
- Sponsor
- Novo Nordisk A/S
Hemophilia A, Hemophilia B
Web Accessible Population Pharmacokinetics Service - Hemophilia: Sources of Variability
Using anonymized patient data collected as part of the WAPPS-Hemo project to explore the sources of variability in individual pharmacokinetics (PK); use the sources of variability to improve the performance of the WAPPS-Hemo…
- Trial name
- WAPPS-Hemo (NCT03533504)
- Testing
- Variability in individual PK
- Where
- Canada
- Volunteers
- 1,000 people
- Sponsor
- McMaster University
Duchenne Muscular Dystrophy, Natural History
phenotypeS in Non Ambulant Duchenne Muscular Dystrophy
The aims of the study are to prospectively collect information on several aspects of function in non-ambulant DMD patients by using a structured battery of tests including motor, respiratory and cardiac function
- Conditions
- Duchenne Muscular Dystrophy, Natural History, Motor Function; Retardation
- Trial name
- GUP21003 (NCT06366815)
- Testing
- Different Phenotypes of non ambulant patients with Duchenne Muscular Dystrophy
- Where
- 2 sites in Italy
- Volunteers
- 250 people
- Sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Hyper-Immunoglobulin E. Syndrome (HEIS), Chronic Granulomatous Disease (CGD)
Skin Immunity Sample Collection Involving Blisters and Biopsies
Background: The way the body heals and protects itself from getting sick is called the immune response. Some people with weak immune systems get sick often or get rashes and skin infections.
- Trial name
- NCT03921515
- Testing
- Blister induction, Skin Biopsies
- Where
- United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Duchenne Muscular Dystrophy
Efficacy of Umbilical Cord Mesenchymal Stem Cells in Duchenne Muscular Dystrophy
Duchenne muscular dystrophy (DMD) is a genetic disorder caused by an absence of dystrophin and characterized by progressive muscle degeneration.
- Trial name
- NCT02285673
- Testing
- Umbilical Cord Mesenchymal Stem Cell
- Where
- Turkey (Türkiye)
- Volunteers
- 10 people
- Sponsor
- Acibadem University
Duchenne Muscular Dystrophy (DMD)
Safety, Tolerability, Pharmacodynamic, Efficacy, and Pharmacokinetic Study of DYNE-251 in Participants With Duchenne Muscular Dystrophy Amenable to Exon 51 Skipping
The primary purpose of this study is to evaluate the safety, tolerability, and dystrophin protein levels in muscle tissue following multiple intravenous (IV) doses of DYNE-251 in participants with Duchenne muscular dystrophy…
- Trial name
- DELIVER (NCT05524883)
- Testing
- DYNE-251
- Where
- 30 sites in United States, Australia and 7 more
- Volunteers
- 86 people
- Sponsor
- Dyne Therapeutics
Rett Syndrome
The Role of Family Functioning in Adaptation to Being a Caregiver of an Individual With Rett Syndrome
Background: Rett syndrome (RS) is a panethnic (affecting all ethnicities) neurodevelopmental (impairment of the growth and development of the brain) disorder affecting primarily females.
- Trial name
- NCT00891956
- Where
- 3 sites in United States
- Volunteers
- 426 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Hemophilia A With Inhibitor, Hemophilia B With Inhibitor
SEVENFACT® for Bleeding Events in Hemophilia With Inhibitors
Phase IV multi-center, US-centric, open-label, safety study enrolling participants with Hemophilia A or B with inhibitors, 12 years of age and older, who are either on long term prophylactic treatment (e.g., emicizumab) at risk…
- Trial name
- NCT04647227
- Testing
- coagulation factor VIIa [recombinant]-jncw
- Where
- 21 sites in United States
- Volunteers
- 55 people
- Sponsor
- American Thrombosis and Hemostasis Network
Duchenne Muscular Dystrophy, Becker Muscular Dystrophy
Ramipril Versus Carvedilol in Duchenne and Becker Patients
Data on preventive therapy in Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) affected individuals without cardiac involvement are very limited and currently lacking regard both ACE-inhibitors and…
- Trial name
- NCT00819845
- Testing
- carvedilol, ramipril
- Where
- Italy
- Volunteers
- 194 people, healthy volunteers welcome
- Sponsor
- Catholic University, Italy
Fabry's Disease, Pregnancy
Fabry's Disease and Pregnancy (PREFAB)
Fabry's disease is a progressive systemic disease X-linked which combines neurological (Fabry's pain crises), dermatologic (angiokeratomas), renal (renal failure), cardiovascular (hypertrophic cardiomyopathy, valvular disease…
- Trial name
- PREFAB (NCT02582294)
- Testing
- Questionnaire
- Where
- France
- Volunteers
- 12 people
- Sponsor
- Groupe Hospitalier Diaconesses Croix Saint-Simon
Muscular Dystrophies, Spinal Muscular Atrophy
Schulze Muscular Dystrophy Ability Clinical Study
The primary objective of the Schulze study is to evaluate the function of the upper limbs of subjects diagnosed with neuromuscular disorders, with and without use of the Abilitech Assist device in the clinic and home…
- Conditions
- Muscular Dystrophies, Spinal Muscular Atrophy, Duchenne Muscular Dystrophy, Limb Girdle Muscular Dystrophy
- Trial name
- NCT05409079
- Testing
- Abilitech Assist
- Where
- United States
- Volunteers
- 35 people
- Sponsor
- AbiliTech Medical Inc.
Fabry Disease, Proteinuria
The Fabrazyme® and Arbs and ACE Inhibitor Treatment (FAACET) Study
The primary hypothesis is that titration of ACE inhibitor and Angiotensin Receptor Blockers (ARBs)to reduce urine protein excretion to < 500 mg per day in Fabry Patients receiving agalsidase beta therapy at 1 mg/kg every two…
- Trial name
- FAACET (NCT00446862)
- Testing
- enalapril and other angiotensin converting enzyme inhibitors; losartan and other angiotensin receptor blockers
- Where
- 6 sites in United States, Slovenia
- Volunteers
- 36 people
- Sponsor
- University of Alabama at Birmingham
Hemophilia B
A Long-Term Follow-Up Study of Haemophilia B Patients Who Have Undergone Gene Therapy
Severe haemophilia B (HB) is a bleeding disorder where a protein made by the body to help make blood clot is either partly or completely missing.
- Trial name
- NCT03641703
- Testing
- FLT180a
- Where
- 6 sites in United Kingdom
- Volunteers
- 10 people
- Sponsor
- Spur Therapeutics
Rett Syndrome
The Role of Dietary Calcium for the Treatment of Osteopenia in Girls With Rett Syndrome
Randomized, placebo-controlled trial of oral calcium supplementation for osteopenia in girls and women with Rett syndrome
- Trial name
- NCT05352373
- Testing
- calcium
- Volunteers
- 32 people
- Sponsor
- Baylor College of Medicine
Rett Syndrome, Dysbiosis
Protective Role of Pre-/ Post-biotics on Gut Inflammation, Dysbiosis, and Life Quality in Rett Syndrome (Biotics_RTT)
The study will examine the potential efficacy and safety of two pre- and post-biotics on markers for gut inflammation and intestinal microbiota ecology in patients with Rett syndrome.
- Conditions
- Rett Syndrome, Dysbiosis, Epilepsy, Quality of Life
- Trial name
- Biotics_RTT (NCT05420805)
- Testing
- ALAC, inulin, FOS, and sodium butyrate, Sodium butyrate and zinc oxide
- Where
- Italy
- Volunteers
- 28 people
- Sponsor
- Azienda Ospedaliera Universitaria Senese
Muscular Dystrophy, Duchenne
Registry of Translarna (Ataluren) in Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD)
This study is being performed as a post-approval safety study (PASS), per the Pharmacovigilance Risk Assessment Committee (PRAC) of the European Medicines Agency (EMA), to gather data on Translarna (ataluren) safety…
- Trial name
- NCT02369731
- Where
- 71 sites in Austria, Brazil and 14 more
- Volunteers
- 316 people
- Sponsor
- PTC Therapeutics
X-linked Hypophosphatemia
Study of the Anti-FGF23 Antibody, Burosumab, in Adults With XLH
This is phase 3b open-label, international, multicenter study to continue to monitor the long-term safety and efficacy of burosumab in adult patients with XLH that participated in previous clinical trials with burosumab…
- Trial name
- NCT03920072
- Testing
- Burosumab
- Where
- 10 sites in France, Ireland and 2 more
- Volunteers
- 35 people
- Sponsor
- Kyowa Kirin Pharmaceutical Development Ltd
Epiretinal Membrane
Epiretinal Membrane in Patients With DR.
To report the prevalence of ERM among patients with diabetic retinopathy, and the possible associated risk factors.
- Trial name
- NCT07241845
- Testing
- OCT
- Volunteers
- 225 people, healthy volunteers welcome
- Sponsor
- Assiut University
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