Clinical trials: DSD, open to volunteers
Turner Syndrome, Primary Ovarian Insufficiency (Poi)
Bleeding Patterns in Sequential and Continuous Progesterone Supplementation in Adolescents With Turner Syndrome
This is a single-site open label non-randomized study comparing effects of sequential versus continuous use of progesterone supplementation amongst Turner Syndrome (TS) patients with primary ovarian insufficiency (POI) prescribed…
- Trial name
- BOOST (NCT06834594)
- Testing
- Micronized progesterone 200 MG, Micronized Progesterone 100 MG
- Where
- United States
- Volunteers
- 40 people
- Sponsor
- Children's Mercy Hospital Kansas City
Turner Syndrome, Cardiovascular Diseases
Lymphedema, Low-grade Inflammation and the Vasculature in Turner Syndrome
100 women with karyotype verified TS, previously examined at 4 study visits during a 19-year period will be asked to participate in a 5th study visit. Healthy age-matched females will be included as controls in a ratio 2:1.
- Conditions
- Turner Syndrome, Cardiovascular Diseases, Lymphedema, Inflammation
- Trial name
- TSCOR_V (NCT06325618)
- Testing
- No intervention other than obtaining biopsies, Indocyanine green (ICG)
- Where
- Denmark
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- University of Aarhus
Intellectual Disability, Neurodevelopmental Disorders
Physical Activity and Community EmPOWERment Project
Purpose: Conduct a wait-list randomized controlled trial (RCT) of an inclusive physical activity program called PACE for adults with intellectual disability (ID) who are not yet showing signs of Alzheimer's Disease…
- Conditions
- Intellectual Disability, Neurodevelopmental Disorders, Autism Spectrum Disorder, Down Syndrome
- Trial name
- PACE (NCT06740162)
- Testing
- PACE Program
- Where
- 2 sites in United States
- Volunteers
- 376 people, healthy volunteers welcome
- Sponsor
- University of North Carolina, Chapel Hill
DSD, Hypospadias
Breaking Silence Through Story: A Narrative Medicine Intervention for Parents of Children With Urogenital Conditions
The goal of this clinical trial is to learn whether a journaling intervention can reduce stress and anxiety in parents of children with urogenital conditions (such as differences of sex development and hypospadias).
- Trial name
- NCT06989593
- Testing
- Narrative Medicine Journaling Intervention
- Where
- United States
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Sarah Schlegel
Polycystic Ovarian Syndrome (PCOS)
This Study Aims to Evaluate Whether Milamend's Product Could Improve Hormone Balance in Women Who Suffer From Self-reported PCOS Symptoms.
The rationale for this study is to observe the impact of a consumer-grade commercially available product called Milamend Hormone Balance on quality of life and hormonal health in women with self-reported symptoms associated with…
- Trial name
- NCT07764328
- Testing
- A dietary supplement powder for women
- Where
- United States
- Volunteers
- 225 people
- Sponsor
- Mila Mend Inc.
Disorders of Sex Development, Hypospadias
Genetics of Differences of Sex Development and Hypospadias
This study seeks to identify genetic causes of conditions that affect the gonads and genitals, and to study the impact on families of receiving genetic results.
- Trial name
- NCT03102554
- Testing
- Return of Genetic Results
- Where
- United States
- Volunteers
- 300 people
- Sponsor
- Boston Children's Hospital
Congenital Adrenal Hyperplasia
Efficacy, Safety, Tolerability, and Pharmacokinetics of NBIP-01435 in Adult Participants With Classic Congenital Adrenal Hyperplasia (CAH)
The main objective of this study is to evaluate the efficacy of different dose levels of NBIP-01435 on reducing elevated androstenedione (A4) levels in adults with classic CAH.
- Trial name
- NCT07850739
- Testing
- NBIP-01435
- Volunteers
- 36 people
- Sponsor
- Neurocrine Biosciences
Klinefelter Syndrome, Trisomy X
The eXtroardinarY Babies Study: Natural History of Health and Neurodevelopment in Infants and Young Children With Sex Chromosome Trisomy
This study is designed to research the natural history of neurodevelopment, health and early hormonal function in infants with XXY/Klinefelter syndrome, XYY, XXX and other sex chromosome variations in an effort to identify early…
- Conditions
- Klinefelter Syndrome, Trisomy X, XYY Syndrome, XXXY and XXXXY Syndrome
- Trial name
- NCT03396562
- Testing
- Assessments of Development and Growth
- Where
- 2 sites in United States
- Volunteers
- 300 people
- Sponsor
- University of Colorado, Denver
CAH - Congenital Adrenal Hyperplasia
Hydrocortisone Modified-release in Adults: Real-world Monitoring of Longitudinal Outcomes in coNgenital Adrenal hYperplasia
Classic congenital adrenal hyperplasia (CAH) is an autosomal recessive genetic disorder caused by a defect in the enzyme cascade regulating adrenal steroidogenesis; in approximately 95% of cases the defect is located in CYP21A2…
- Trial name
- HARMONY (NCT07622030)
- Volunteers
- 100 people
- Sponsor
- IRCCS San Raffaele
Prader-Willi Syndrome, PWS-like Syndrome
GROWing Up With Rare GENEtic Syndromes
Introduction Rare complex syndromes Patients with complex genetic syndromes, by definition, have combined medical problems affecting multiple organ systems, and intellectual disability is often part of the syndrome.
- Conditions
- Prader-Willi Syndrome, PWS-like Syndrome, Silver Russel Syndrome, Congenital Hypopituitarism
- Trial name
- GROW UR GENES (NCT04463316)
- Testing
- Retrospective file studies
- Where
- Netherlands
- Volunteers
- 600 people
- Sponsor
- dr. Laura C. G. de Graaff-Herder
Adipocytic Neoplasm, Liposarcoma
NRSTS2021, A Risk Adapted Study Evaluating Maintenance Pazopanib, Limited Margin, Dose-Escalated Radiation Therapy and Selinexor in Non-Rhabdomyosarcoma Soft Tissue Sarcoma (NRSTS)
The study participant has been diagnosed with non-rhabdomyosarcoma (NRSTS). Primary Objectives Intermediate-Risk To estimate the 3-year event-free survival for intermediate-risk patients treated with ifosfamide, doxorubicin…
- Conditions
- Adipocytic Neoplasm, Liposarcoma, Atypical Fibroxanthoma, Angiomatoid Fibrous Histiocytoma
- Trial name
- NCT06239272
- Testing
- Surgical resection, Proton beam radiation therapy, Pazopanib
- Where
- 7 sites in United States
- Volunteers
- 139 people
- Sponsor
- St. Jude Children's Research Hospital
Growth Hormone Deficiency, Idiopathic Short Stature
Long-term Safety and Effectiveness of Growtropin®-II Treatment in Children With Short Stature
This study evaluates long-term safety and effectiveness of Growtropin®-II treatment in children with short stature.
- Conditions
- Growth Hormone Deficiency, Idiopathic Short Stature, Turner Syndrome, Small for Gestational Age
- Trial name
- NCT04798690
- Where
- South Korea
- Volunteers
- 5,000 people
- Sponsor
- Dong-A ST Co., Ltd.
Genetic Disorder, Infertility
Inherited Reproductive Disorders
Background: During puberty, children begin to develop into adults. Problems with the hormones released during puberty can affect the reproductive system. Some people have low hormone levels that severely delay or prevent puberty.
- Conditions
- Genetic Disorder, Infertility, Hypogonadism, Amenorrhea
- Trial name
- NCT01500447
- Where
- 2 sites in United States
- Volunteers
- 850 people
- Sponsor
- National Institute of Environmental Health Sciences (NIEHS)
Disorders of Sex Development (DSD), Pediatric and Adolescent Cancers of the Genital Tract
Data Collection Study of Pediatric and Adolescent Gynecology Conditions
Background: Gynecologic conditions are those that are related to the reproductive system. They can be reproductive gland disorders or reproductive system tumors. They can also be inborn anomalies of the reproductive tract.
- Conditions
- Disorders of Sex Development (DSD), Pediatric and Adolescent Cancers of the Genital Tract, Reproductive Endocrine Conditions in Puberty, Structural Gynecologic Conditions Including Vulvar and Vaginal Conditions
- Trial name
- NCT04717349
- Where
- United States
- Volunteers
- 11,000 people, healthy volunteers welcome
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Disorders of Sex Development, Growth Disorders
Identifying New Genetic Causes to Development Disorders
Disorders of growth, puberty and sex development can have genetic causes. The exome analysis could detect new mutations responsible for these disorders and the frequency of these mutations in these disorders, their association…
- Conditions
- Disorders of Sex Development, Growth Disorders, Puberty Disorders
- Trial name
- FORDEV (NCT03283852)
- Testing
- blood sample
- Where
- France
- Volunteers
- 1,100 people
- Sponsor
- Fondation Ophtalmologique Adolphe de Rothschild
Turner Syndrome
UTHealth Turner Syndrome Research Registry
The investigators will conduct genetic comparisons between Turner Syndrome (TS) patients with and without Bicuspid Aortic Valve (BAV) to identify causative agents of BAV in people with TS.
- Trial name
- NCT03185702
- Testing
- Research genetic tests
- Where
- United States
- Volunteers
- 200 people
- Sponsor
- The University of Texas Health Science Center, Houston
Turner Syndrome
Characterization of Hepatopathy in Turner Syndrome: Analysis of Determinants
The present study is therefore aimed at investigating the prevalence of hepatic alterations (laboratory and imaging) in adult patients with TS and generating hypothesissto the possible etiopathogenetic factors most involved, as…
- Trial name
- NCT06794190
- Where
- Italy
- Volunteers
- 120 people
- Sponsor
- IRCCS Azienda Ospedaliero-Universitaria di Bologna
Fertility Disorders, Turner Syndrome
The Danish TURNER Cryopreservation Study
The goal of this clinical trial is to investigate if cryopreservation of ovarian tissue in girls with Turner syndrome can improve their fertility and lead to increased number of liveborn babies of Turner syndrome mothers.
- Conditions
- Fertility Disorders, Turner Syndrome, Premature Ovarian Failure
- Trial name
- DANTE (NCT05740579)
- Testing
- laparoscopic cryopreservation of one ovary
- Where
- Denmark
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- University of Aarhus
Turner Syndrome
The Efficacy and Safety of Inpegsomatropin Injection in Children With Turner Syndrome (TS) and Short Stature
This is a multicenter, randomized, open-label, positive-controlled phase III confirmatory clinical study. A total of 84 children with short stature due to Turner Syndrome (TS) are planned to be enrolled.
- Trial name
- NCT07614152
- Testing
- Inpegsomatropin-Injection, Givopegsomatropin Solution Injection
- Where
- 51 sites in China
- Volunteers
- 84 people
- Sponsor
- Xiamen Amoytop Biotech Co., Ltd.
Adenine Phosphoribosyltransferase Deficiency, AH Amyloidosis
National Registry of Rare Kidney Diseases
The goal of this National Registry is to is to collect information from patients with rare kidney diseases, so that it that can be used for research.
- Conditions
- Adenine Phosphoribosyltransferase Deficiency, AH Amyloidosis, AHL Amyloidosis, AL Amyloidosis
- Trial name
- RaDaR (NCT06065852)
- Where
- United Kingdom
- Volunteers
- 35,000 people
- Sponsor
- UK Kidney Association