Clinical trials: DSD, open to volunteers
Rare Disorders, Undiagnosed Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
The Coordination of Rare Diseases at Sanford (CoRDS) is an international patient registry that serves as a centralized resource for rare disease research.
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome
- Trial name
- CoRDS (NCT01793168)
- Where
- United States
- Volunteers
- 20,000 people
- Sponsor
- Sanford Health
Polycystic Ovary Syndrome (PCOS), Metabolic Dysfunction-Associated Steatotic Liver Disease
Biomarker Panel for PCOS-Associated Liver Steatosis in Adolescent Girls (COMPASS-pedPCOS)
This single-center, prospective, observational, cross-sectional mechanistic pilot study will evaluate whether polycystic ovary syndrome (PCOS) contributes to hepatic steatosis in adolescent girls independently of adiposity.
- Conditions
- Polycystic Ovary Syndrome (PCOS), Metabolic Dysfunction-Associated Steatotic Liver Disease, Pediatric Obesity, Hyperandrogenism
- Trial name
- COMPASSpedPCOS (NCT07731373)
- Testing
- Extended Serum Biomarker and Hormonal Panel, Liver Elastography with Controlled Attenuation Parameter, Targeted Genotyping of PNPLA3 rs738409 and HSD17B13 rs72613567
- Where
- Turkey (Türkiye)
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- Kayseri City Hospital
Puberty, Hyperandrogenism
Acute Progesterone Suppression of Wake vs. Sleep Luteinizing Hormone Pulse Frequency in Pubertal Girls With and Without Hyperandrogenism
The purpose of this study is two-fold. (1) We will determine if in mid- to late pubertal girls without hyperandrogenism (HA), progesterone (P4) acutely reduces waking luteinizing hormone (LH) frequency to a greater extent than…
- Trial name
- CRM003 (NCT00929006)
- Testing
- Micronized progesterone suspension
- Where
- United States
- Volunteers
- 36 people, healthy volunteers welcome
- Sponsor
- University of Virginia
Congenital Adrenal Hyperplasia, Classic Congenital Adrenal Hyperplasia
An Extension Study to Evaluate Safety and Efficacy of Atumelnant in Participants With Congenital Adrenal Hyperplasia
The purpose of this study is to evaluate the long-term safety, tolerability, and efficacy of atumelnant (CRN04894).
- Trial name
- CALM2-CAH (NCT06712823)
- Testing
- atumelnant (CRN04894)
- Where
- 13 sites in United States, Argentina and 4 more
- Volunteers
- 200 people
- Sponsor
- Crinetics Pharmaceuticals Inc.
PCOS (Polycystic Ovary Syndrome), Obese Adolescents
Lean Beef as Part of a Healthy Meal Plan in Adolescents With Polycystic Ovary Syndrome (PCOS)/Polyendocrine Metabolic Ovarian Syndrome (PMOS)
This pilot randomized controlled study will plan to enroll 36 adolescent females with Polycystic Ovary Syndrome (PCOS)/Polyendocrine Metabolic Ovarian Syndrome (PMOS) to evaluate the effectiveness and feasibility of a tailored…
- Conditions
- PCOS (Polycystic Ovary Syndrome), Obese Adolescents, Overweight (Without Type 2 Diabetes) With Weight-related Comorbidities, Overweight Adolescents
- Trial name
- Beef+ (NCT07780188)
- Testing
- Beef+
- Where
- United States
- Volunteers
- 36 people
- Sponsor
- Texas A&M University
Turner Syndrome, Short Stature Homeobox Gene Mutation
Trial Investigating the Efficacy and Safety of Weekly Lonapegsomatropin Compared to Daily Somatropin in Children and Adolescents With Short Stature or Growth Failure Due to Growth Hormone Sufficient Disorders
This basket trial will enroll prepubertal children and adolescents with clinically diagnosed and genetically confirmed (if applicable) TS, SHOX-D, SGA, or ISS between ages of ≥2 and <18 years with open growth plates.
- Conditions
- Turner Syndrome, Short Stature Homeobox Gene Mutation, Idiopathic Short Stature, Small for Gestational Age at Delivery
- Trial name
- NCT07221851
- Testing
- Lonapegsomatropin [SKYTROFA®], Somatropin Pen Injector
- Where
- 51 sites in United States, France and 5 more
- Volunteers
- 186 people
- Sponsor
- Ascendis Pharma A/S
Congenital Adrenal Hyperplasia
A Trial of Lu AG13909 in Participants With Congenital Adrenal Hyperplasia
This trial will evaluate the effects of different doses of Lu AG13909 in adult participants with congenital adrenal hyperplasia, also called CAH.
- Trial name
- NCT05669950
- Testing
- Lu AG13909
- Where
- 17 sites in United States, Denmark and 7 more
- Volunteers
- 42 people
- Sponsor
- H. Lundbeck A/S
Lipodystrophy Congenital Generalized, Lipodystrophy, Familial Partial
Sexual Quality of Life in Female Patients With Lipodystrophy Syndromes or Turner's Syndrome: a Case-control Study
Turner syndrome (TS) and congenital lipodystrophy syndromes (LS) are rare conditions with major consequences on cardiometabolic health, fertility, and body morphology.
- Conditions
- Lipodystrophy Congenital Generalized, Lipodystrophy, Familial Partial, Turner Syndrome
- Trial name
- LIPTURN (NCT07799012)
- Where
- France
- Volunteers
- 1,416 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Turner Syndrome
Parental Project Amongst 93 Patients With Turner Syndrome
The aim is to describe the parental project, spontaneous pregnancies and pregnancies resulting from egg donation or adoption in women diagnosed with Turner syndrome treated at Strasbourg University Hospitals.
- Trial name
- TURNER (NCT07344012)
- Where
- France
- Volunteers
- 93 people
- Sponsor
- University Hospital, Strasbourg, France
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
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
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, Hypogonadism; Ovarian
Determining Dose Equivalence Between Oral and Transdermal Estrogen Treatment in Women With Turner Syndrome
This 5-week, phase IV randomized crossover trial aims to compare the effects of oral versus transdermal estrogen replacement therapy (ERT) in women with Turner syndrome (TS).
- Conditions
- Turner Syndrome, Hypogonadism; Ovarian, Hormone Replacement Therapy, Estrogen Replacement Therapy
- Trial name
- NCT06544473
- Testing
- 17-beta estradiol
- Where
- Denmark
- Volunteers
- 50 people
- Sponsor
- Aarhus University Hospital
Sex Chromosome Aneuploidy
Generating Advancements Through Longitudinal Analysis in X and Y Variations (GALAXY)
GALAXY is a registry research study that plans to learn more about individuals with X\&Y variations (also called sex chromosome aneuploidies) through collecting information from medical records.This includes genetic tests…
- Trial name
- GALAXY (NCT06373861)
- Testing
- no intervention
- Where
- United States
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- University of Colorado, Denver
Hypothalamic Obesity
A Long-Term Study of Bivamelagon in Participants With Hypothalamic Obesity (HO)
This is a long-term, open-label extension study of bivamelagon in participants with Hypothalamic Obesity (HO) who have transitioned from the index study, LG-MCCL005. The study will last up to 2 years.
- Trial name
- NCT07156578
- Testing
- Bivamelagon
- Where
- 9 sites in United States, United Kingdom
- Volunteers
- 25 people
- Sponsor
- Rhythm Pharmaceuticals, Inc.
Klinefelter Syndrome, Thyroiditis, Autoimmune
Thyroid Function and Structure in Klinefelter Syndrome
This is a longitudinal retrospective study for the evaluation of thyroid function and structure in patients with Klinefelter syndrome compared to healthy controls and patients affected by chronic lymphocytic thyroiditis.
- Conditions
- Klinefelter Syndrome, Thyroiditis, Autoimmune, Hypothyroidism
- Trial name
- THINKS (NCT05581147)
- Where
- Italy
- Volunteers
- 600 people
- Sponsor
- University of Roma La Sapienza
Anomaly Heart, Turner Syndrome
Role of Cardiac AngioMR in Diagnosis of Cardiac and Vascular Anomalies in Adult Patients with Turner Syndrome
Considering the high prevalence of cardiovascular disease in Turner syndrome patients, noninvasive cardiac imaging is crucial for diagnosis and follow-up.
- Trial name
- NCT06178887
- Testing
- imaging
- Where
- Italy
- Volunteers
- 33 people
- Sponsor
- Azienda Ospedaliero-Universitaria di Modena
Cushing Disease Due to Increased ACTH Secretion
Combination Osilodrostat and Cabergoline in Cushing's Disease
Cushing disease remains a challenging endocrine disorder in which persistent or recurrent hypercortisolism often requires medical therapy after surgery or when surgery is not feasible.
- Trial name
- COSCA-ECD (NCT07603466)
- Testing
- osilodrostat, osilodrostat and cabergoline
- Where
- 5 sites in Iraq
- Volunteers
- 50 people
- Sponsor
- University of Basrah
46, XY DSD
Phenotypic and Genotypic Characterisation of a Large, Multicentre Italian Cohort of 46, XY DSD Patients
Observational exploratory study of a cohort of pediatric and adolescent patients diagnosed with DSD karyotype 46,XY, a rare congenital clinical condition characterized by a disharmonic development between chromosomal sex, gonadal…
- Trial name
- NCT06723938
- Where
- 4 sites in Italy
- Volunteers
- 520 people
- Sponsor
- IRCCS Azienda Ospedaliero-Universitaria di Bologna
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)