Clinical trials: Genetic Disorders
Achondroplasia
A Multicenter, Multinational Clinical Assessment Study for Pediatric Patients With Achondroplasia
Multicenter, multinational study to collect consistent baseline growth measurements on pediatric patients with Achondroplasia being considered for subsequent enrollment in future studies sponsored by BioMarin.
- Trial name
- NCT01603095
- Where
- 20 sites in United States, Australia and 4 more
- Volunteers
- 363 people
- Sponsor
- BioMarin Pharmaceutical
Cystic Fibrosis
Natural History Study of Exocrine Pancreatic Function in Infants With Cystic Fibrosis (CF)
The purpose of the study is to evaluate the natural history of exocrine pancreatic function by assessing Fecal elastase-1 (FE-1) in infants with CF during their first year of life.
- Trial name
- NCT06506773
- Where
- 50 sites in United States, Australia and 9 more
- Volunteers
- 79 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Congenital Adrenal Hyperplasia
Comparison of Chronocort Versus Standard Hydrocortisone Replacement Therapy in Participants Aged 16 Years and Over With Congenital Adrenal Hyperplasia
This study is a randomized, double-blind, active-controlled, phase III study of Chronocort® compared with immediate-release hydrocortisone replacement therapy in participants aged 16 years and over with Congenital Adrenal…
- Trial name
- CONnECT (NCT05063994)
- Testing
- Chronocort, Cortef
- Where
- 21 sites in United States, France and 1 more
- Volunteers
- 55 people
- Sponsor
- Neurocrine UK Limited
Alagille Syndrome
Characterization of Pulmonary Artery Stenoses in Alagille Syndrome - a Medical Record Review
Patients who have Alagille Syndrome (AGS) also frequently have blockages (or "stenoses") of their pulmonary arteries. Little is known about the degree or variability of these stenoses, or the effect of this disease on the right…
- Trial name
- NCT01515631
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- Stanford University
Behavioral Manifestations of Lesch-Nyhan Disease
Trial of Kuvan in Lesch-Nyhan Disease
To assess the possibility that treatment with Kuvan (a form of tetrahydrobiopterin) will lessen the abnormal behavior and/or neurology commonly found in Lesch-Nyhan disease (LND); to assess biochemical changes as measured in…
- Trial name
- NCT00935753
- Testing
- sapropterin
- Where
- United States
- Sponsor
- University of California, San Diego
Primary Immune Deficiency Disorder
Identification of New Inborn Errors of Immunity
Analysis of DNA samples of patients with molecularly undetermined PID by whole exome/genome sequencing. Transcriptome analysis of patients with molecularly undetermined PID.
- Trial name
- NCT03414528
- Testing
- Diagnostic Test
- Where
- Switzerland
- Volunteers
- 9 people, healthy volunteers welcome
- Sponsor
- University of Zurich
Elasticum, Incomplete Pseudoxanthoma
The Characteristics of Backscattering With Depth in the Progression of Keratoconus
To investigate the variation in backscattering with depth between forme fruste keratoconus (FFKC), keratoconus, and normal eyes; to determine the backscattering changes in the characteristics of keratoconus progression; and to…
- Trial name
- NCT06050629
- Where
- China
- Volunteers
- 223 people, healthy volunteers welcome
- Sponsor
- Tianjin Eye Hospital
Hemophilia A, Factor VIII Deficiency
A Study Comparing Factor Level and Inhibitor Titer Testing Results Drawn From Central Venous Lines and Venipuncture
The purpose of this research study is to see if factor levels and inhibitor levels in Hemophilia A and B subjects are accurate when they are drawn from a central venous line (CVL) instead of from a peripheral stick.
- Conditions
- Hemophilia A, Factor VIII Deficiency, Hemophilia, Hemophilia B
- Trial name
- CVL#2 (NCT02402829)
- Testing
- Peripheral Vein Blood draw
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- Children's Mercy Hospital Kansas City
Endometrial Neoplasms
Characterization of the Genetic Profile of Type 2 Endometrial Carcinoma in Martinique
In Martinique, about 33 new cases are diagnosed per year, with a high incidence rate of type 2 endometrial carcinoma which has a poor prognosis with few therapeutic options.
- Trial name
- ENDO-NGS-MQ (NCT03766672)
- Testing
- Intervention Arm
- Where
- Martinique
- Volunteers
- 30 people
- Sponsor
- University Hospital Center of Martinique
Tuberous Sclerosis, Neurofibromatoses
Topical Rapamycin Therapy to Alleviate Cutaneous Manifestations of Tuberous Sclerosis Complex (TSC) and Neurofibromatosis I (NF1)
This study is a prospective, randomized, double-blind, placebo-controlled evaluation of the safety of a topically applied formulation of rapamycin to cutaneous fibromatous lesions in subjects with Tuberous Sclerosis Complex (TSC)…
- Conditions
- Tuberous Sclerosis, Neurofibromatoses, Angiofibroma, Neurofibroma
- Trial name
- NCT01031901
- Testing
- Skincerity, Skincerity plus sirolimus/rapamycin, Skinercity plus sirolimus/rapamycin
- Where
- United States
- Volunteers
- 52 people, healthy volunteers welcome
- Sponsor
- The University of Texas Health Science Center, Houston
Recessive Dystrophic Epidermolysis Bullosa
A Study of PTR-01 in Recessive Dystrophic Epidermolysis Bullosa
Protocol PTR-01-002 is a 3-part Phase 2, open-label study of PTR-01. While new patients will be enrolled, priority will be given to patients that satisfactorily completed study PTR-01-001.
- Trial name
- NCT04599881
- Testing
- PTR-01
- Where
- 2 sites in United States
- Volunteers
- 6 people
- Sponsor
- Phoenix Tissue Repair, Inc.
0.5-14 Year Old Children With Nephroblastoma
Combination Therapy of Anthracyclines for Children With Nephroblastoma
This study aims to estimate the efficacy and side effects of study drugs in children with nephroblastoma who are treated with combination therapy.
- Trial name
- NCT03892330
- Testing
- Vincristine, Oxytetracycline/ Cyclophosphamide, Liposomal doxorubicin
- Where
- China
- Volunteers
- 120 people
- Sponsor
- Shengjing Hospital
Glycogen Storage Disease Type III
Study to Evaluate Biomarkers and Clinical Manifestations in Individuals With Glycogen Storage Disease Type III (GSD III)
The primary objective of this study is to evaluate potential biomarkers of GSD III.
- Trial name
- NCT04574830
- Testing
- No Intervention
- Where
- 4 sites in United States
- Volunteers
- 18 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
Multicystic Dysplastic Kidney, Polycystic Kidney Disease
Amnioinfusion for Fetal Renal Failure
The goal of this clinical trial is to learn if serial amnioinfusions can improve the chances of survival for fetuses with severe kidney problems that cause low amniotic fluid (anhydramnios).
- Conditions
- Multicystic Dysplastic Kidney, Polycystic Kidney Disease, Fetal Renal Anomaly, Anhydramnios
- Trial name
- NCT06728228
- Testing
- Amnioinfusion
- Where
- United States
- Volunteers
- 35 people
- Sponsor
- Fetal Care Center, PLLC
Recessive Dystrophic Epidermolysis Bullosa
A Phase 1/2 Trial of PTR-01 in Adult Patients With Recessive Dystrophic Epidermolysis Bullosa (RDEB)
Protocol PTR-01-001 is a Phase 1/2 study of PTR-01. The study is divided into an up to 4-week Screening Period, a 10-week Treatment Period and an 8-week Follow-up Period.
- Trial name
- PTR-01-001 (NCT03752905)
- Testing
- PTR-01, Normal saline
- Where
- 3 sites in United States
- Volunteers
- 12 people
- Sponsor
- Phoenix Tissue Repair, Inc.
Huntington Disease
Symptomatic Therapy for Patients With Huntington's Disease
Based on the previous symptomatic treatment of Chinese HD patients, this study intends to further optimize the treatment regimen of Chinese HD patients so as to further improve the prognosis of patients.
- Trial name
- NCT04071639
- Testing
- Haloperidol 2Mg Tab, Risperidone 1Mg Tab, Zoloft 50Mg Tablet
- Where
- China
- Volunteers
- 60 people
- Sponsor
- Second Affiliated Hospital, Zhejiang University, School of Medicine
Sickle Cell Disease, Sickle Cell Crisis
Optimal Timing of Ketamine Initiation for SCD Pain
The goal of this clinical trial is to learn if the use of early ketamine decreases the chance of admission to the hospital in patients with sickle cell disease presenting with pain.
- Trial name
- NCT07450430
- Testing
- Ketamine hydrochloride injection
- Where
- United States
- Volunteers
- 90 people
- Sponsor
- Boston Children's Hospital
Genetic, Diagnostic Strategies
A Study of the Value of Trio Genome Sequencing in the Etiological Evaluation of Early-Onset and/or Atypical Psychiatric Disorders Without Intellectual Disability or Congenital Anomalies
According to the World Health Organization, one in eight people worldwide has a mental disorder, defined as a significant impairment in thinking, emotional regulation, or behavior.
- Trial name
- PSYGEN (NCT07686653)
- Testing
- Blood sample
- Where
- France
- Volunteers
- 255 people
- Sponsor
- Centre Hospitalier Universitaire Dijon
Inborn Errors of Metabolism, Pregnancy
Maternal Inborn Errors of Metabolism in Pregnancy: A Pregnancy Registry Protocol
Background: People with inborn errors of metabolism can t turn food into energy the right way. This can affect a person s growth and health. Researchers want to know how this condition affects a pregnant woman and her baby.
- Conditions
- Inborn Errors of Metabolism, Pregnancy, Acidemias
- Trial name
- NCT02322177
- Where
- 2 sites in United States
- Volunteers
- 2 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Adenomatous Polyposis Coli
Trial In Pediatric Patients With Familial Adenomatous Polyposis (FAP)
To test whether celecoxib can be used to prevent colon polyp formation in children with familial adenomatous polyposis (FAP).
- Trial name
- CHIP (NCT00585312)
- Testing
- Celecoxib
- Where
- 42 sites in United States, Belgium and 12 more
- Volunteers
- 106 people
- Sponsor
- Pfizer's Upjohn has merged with Mylan to form Viatris Inc.
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