Symptoms and General Pathology

All Conditions

Urinary Tract, Sexual Organs, and Pregnancy Conditions

Neoplasms

Gland and Hormone Related Diseases

Nervous System Diseases

Musculoskeletal Diseases

Mouth and Tooth Diseases

Diseases and Abnormalities at or Before Birth

Rare Diseases

Syndrome

Infertility

Polycystic Ovary Syndrome

Anosmia

Cleft Palate

Cleft Lip

Hypogonadism

Puberty, Precocious

Amenorrhea

Cryptorchidism

Kallmann Syndrome

Gonadal Disorders

Endocrine System Diseases

Mouth Diseases

Stomatognathic Diseases

Congenital Abnormalities

Mouth Abnormalities

Stomatognathic System Abnormalities

Cysts

Ovarian Cysts

Ovarian Diseases

Adnexal Diseases

Genital Diseases, Female

Genital Diseases

Urogenital Diseases

Female Urogenital Diseases

Pregnancy Complications

Female Urogenital Diseases and Pregnancy Complications

Jaw Abnormalities

Jaw Diseases

Maxillofacial Abnormalities

Craniofacial Abnormalities

Musculoskeletal Abnormalities

Menstruation Disturbances

Disorders of Sex Development

Disorder of Sex Development, 46,XY

Urogenital Abnormalities

Male Urogenital Diseases

Genetic Diseases, Inborn

Precocious Puberty

Patients with reproductive disorders with or without cleft lip/palate will be recruited for:

* completion of medical questionnaire and review of medical records
* family tree (including questions on reproductive disorders and cleft lip/palate)
* specimen collection (DNA/RNA) from: serum/plasma/saliva/urine/buccal swab/hair follicles/sperm/skin biopsy
* smell testing
* hearing test
* bone density
* brain MRI
* kidney, testicular/ovarian ultrasound

Family members of Patients will be recruited for:

* completion of medical questionnaire
* specimen collection (DNA/RNA) from: serum/plasma/saliva/urine/buccal swab/hair follicles/sperm/skin biopsy
* smell testing

Emmanuelle Paccou

Michela Adamo, MD

Nelly Pitteloud, M.D.

The purpose of this study is to explore the genetic basis of reproductive disorders and cleft lip and/or palate.

The World Health Organization estimates approximately 10% of couples experience some sort of infertility problem.

In humans, puberty is the process through which we develop reproductive capacity.

The timing of puberty varies greatly in the general population and is influenced by both genetic and environmental factors. In extreme cases of pubertal delay, puberty progresses only partially or not at all and results in the clinical picture of congenital hypogonadotropic hypogonadism (CHH), either accompanied by anosmia in 50% of cases (Kallmann syndrome \[KS\]) or by normal sense of smell (nCHH), with a male: female ratio of 4:1.

CHH is due to GnRH deficiency (incidence 1: 4,000-10,000) and result in the failure of sexual maturation and infertility. It is genetically heterogeneous, with multiple patterns of inheritance and several associated loci. In the clinical spectrum of GnRH deficiency, CHH may also be associated with a cleft lip/palate (CL/P) in 5 to 7% of cases. However, this prevalence increases up to 40% in CHH patients carrying a mutation in a CL/P gene, suggesting a genetic overlap between CHH and CL/P.

Disorders of puberty have provided insight into the biology of reproduction and genetic technologies have enabled us to deepen understanding in this field. The focus of this study is to better understand the genetic control of puberty and human reproduction as well as its link with CL/P.

Increasing understanding of the molecular basis (genes) of inherited reproductive disorders and CL/P may enable investigators to:

* improve diagnostic testing and treatments for these problems
* develop new diagnostic tests and therapies for patients
* enhance counseling for patients and families with reproductive disorders
* enhance counseling for patients and families with cleft lip/palate

whole blood, serum/plasma, white blood cells, DNA

Genetics of Reproductive Disorders (Including Kallmann Syndrome) and Cleft Lip and/or Palate

The Genetics of Neuroendocrine Reproductive Disorders and of the Cleft Lip and/or Palate

The investigators aim to discover genes associated with reproductive disorders by identifying rare sequence variants (mutations) in patients

The investigators will use a variety of scientific approaches to assess the functional impact of the identified rare sequence variants (mutations)

The investigators will examine family pedigrees and study family members to determine the inheritance patterns (how the disorder is transmitted in the family)

The investigators will study the phenotypic spectrum (how the disorder presents clinically) in patients with identified rare sequence variants (mutations)

Swiss National Science Foundation

Centre Hospitalier Universitaire Vaudois

Professor of Medicine, Chief of Service

Behaviors and Mental Disorders

Head and Neck Neoplasms

Quality of Life

Patients treated in the MaxilloFacial Prosthesis consultation (Dental Department, Pitié-Salpêtrière Hospital Group)

Questionnaire

Benjamin POMES, PH

Patients treated with Maxillofacial Prosthesis have loss of maxillary and/or mandibular substances. Few data are available on quality of life of these patients and its association with some of their socio-demographic, medical and clinical characteristics.

Patients treated with Maxillofacial Prosthesis have loss of maxillary and/or mandibular substances (oral-nasal or oral-sinusal communication, removal of the soft palate, removal of part of the lower jaw). These losses are mainly due to the surgical consequences of cancers of the upper aerodigestive tract, trauma or sequelae of labio-palate clefts. Depending on the etiology of substance loss, there are 3 main therapeutics: surgical approach, radiotherapy and chemotherapy. The effects of these treatments are functional, aesthetic and psychological. The functions impacted are chewing, phonation, ventilation and swallowing.

Few data are available on quality of life of these patients and its association with some of their socio-demographic, medical and clinical characteristics (drug use, type of maxillo-mandibular loss of substance, disorder(s) associated with substance loss, ...).

This study investigates the socio-demographic, medical and quality of life characteristics of Maxillofacial Prosthesis consultation's patients (Department of Dentistry, GHPS) and the potential associations between quality of life and some of these characteristics.

Characteristics of a Maxillofacial Prosthesis Consultation Within Assistance Publique - Hopitaux de Paris

Descriptive Epidemiological Study of Maxillofacial Prosthesis Consultation at Groupe Hospitalier Pitié-Salpêtrière for Sociodemographic, Medical Characteristics and Quality of Life

Characteristics such as age, gender, medical history, dental history, oral hygiene will be collected.

Questionnaire WHOQOL-BREF (World Health Organization Quality of Life) - 26 items rated on a 5 point likert scale (low score of 1 to high score of 5)

Questionnaire GOHAI (General Oral Health Assessment Index) 12 items rated on a 5 point likert scale (low score of 1 to high score of 5)

Medical factors will be collected such as :

* Drug consumption (number of drugs taken per day)
* Disorders associated with substance loss (number of disorders)
* Reconstructive surgery (presence or absence)
* Oral opening limitation (height in millimeters)

Assistance Publique - Hôpitaux de Paris

Study title	NCT ID	Conditions	Interventions	Eligibility	Organization	Link
Genetics of Reproductive Disorders (Including Kallmann Syndrome) and Cleft Lip and/or Palate	NCT01601171	Kallmann Syndro... Hypogonadotropi... Hypothalamic Am... Polycystic Ovar... Precocious Pube... Cleft Lip and P... Cleft Palate Cleft Lip		-	Centre Hospitalier Universitaire Vaudois
Characteristics of a Maxillofacial Prosthesis Consultation Within Assistance Publique - Hopitaux de Paris	NCT04277273	Head and Neck N... Cleft Palate Cleft Lip	Questionnaire	18 Years -	Assistance Publique - Hôpitaux de Paris

Spots Global Cancer Trial Database for cleft palate

Every month we try and update this database with for cleft palate cancer trials from around the world to help patients and their families find trials that might be right for them.
We offer this 100% free of charge and do not endorse any of the trials listed here, we hope it helps you or a loved one.